{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T12:54:09Z","timestamp":1793364849578,"version":"4.5.0"},"reference-count":167,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T00:00:00Z","timestamp":1700092800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001870","name":"Fundacja na rzecz Nauki Polskiej","doi-asserted-by":"publisher","award":["POIR.04.04.00\u201300\u20131603\/18"],"award-info":[{"award-number":["POIR.04.04.00\u201300\u20131603\/18"]}],"id":[{"id":"10.13039\/501100001870","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005888","name":"Medical University of Lodz","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005888","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Mutation Research - Reviews in Mutation Research"],"published-print":{"date-parts":[[2024,1]]},"DOI":"10.1016\/j.mrrev.2023.108476","type":"journal-article","created":{"date-parts":[[2023,11,19]],"date-time":"2023-11-19T23:34:19Z","timestamp":1700436859000},"page":"108476","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":22,"special_numbering":"C","title":["Congenital neutropenia: From lab bench to clinic bedside and back"],"prefix":"10.1016","volume":"793","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8066-3303","authenticated-orcid":false,"given":"Weronika","family":"Dobrewa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Bielska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katarzyna","family":"B\u0105bol-Pokora","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Szymon","family":"Janczar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wojciech","family":"M\u0142ynarski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"Suppl 5","key":"10.1016\/j.mrrev.2023.108476_bib1","doi-asserted-by":"crossref","first-page":"S5","DOI":"10.1016\/S1098-3597(06)80053-0","article-title":"Neutropenia: etiology and pathogenesis","volume":"8","author":"Schwartzberg","year":"2006","journal-title":"Clin. Cornerstone"},{"key":"10.1016\/j.mrrev.2023.108476_bib2","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1182\/asheducation.V2012.1.174.3798251","article-title":"How to approach neutropenia","volume":"1","author":"Boxer","year":"2012","journal-title":"Hematol. Am. Soc. Hematol. Educ. Program"},{"key":"10.1016\/j.mrrev.2023.108476_bib3","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1136\/adc.2006.094706","article-title":"The investigation and management of chronic neutropenia in children","volume":"91","author":"James","year":"2006","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.mrrev.2023.108476_bib4","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1111\/nyas.14309","article-title":"New insights into the pathomechanism of cyclic Neutropenia","volume":"1466","author":"Mir","year":"2020","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"10.1016\/j.mrrev.2023.108476_bib5","doi-asserted-by":"crossref","first-page":"e.872","DOI":"10.1097\/HS9.0000000000000872","article-title":"The European Guidelines on Diagnosis and Management of Neutropenia in Adults and Children: A Consensus Between the European Hematology Association and the EuNet-INNOCHRON COST Action","volume":"30","author":"Fioredda","year":"2023","journal-title":"Hemasphere"},{"key":"10.1016\/j.mrrev.2023.108476_bib6","series-title":"Hematology, Immunology and Infectious Disease Neonatology Questions and Controversies","author":"Ohls","year":"2012"},{"key":"10.1016\/j.mrrev.2023.108476_bib7","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0140930","article-title":"Meta-Analysis and Cost Comparison of Empirical versus Pre-Emptive Antifungal Strategies in Hematologic Malignancy Patients with High-Risk Febrile Neutropenia","volume":"10","author":"Fung","year":"2015","journal-title":"PLOS One"},{"key":"10.1016\/j.mrrev.2023.108476_bib8","doi-asserted-by":"crossref","first-page":"223","DOI":"10.3816\/SCT.2006.n.020","article-title":"The Severe Chronic Neutropenia International Registry: 10-Year Follow-up Report","volume":"3","author":"Dale","year":"2006","journal-title":"Support Cancer Ther."},{"key":"10.1016\/j.mrrev.2023.108476_bib9","first-page":"63","article-title":"Wrodzona neutropenia - diagnostyka i leczenie","volume":"2","author":"Jasi\u0144ska","year":"2011","journal-title":"Hematologia"},{"key":"10.1016\/j.mrrev.2023.108476_bib10","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1097\/MOH.0000000000000208","article-title":"How I diagnose and treat neutropenia","volume":"23","author":"Dale","year":"2016","journal-title":"Curr. Opin. Hematol."},{"key":"10.1016\/j.mrrev.2023.108476_bib11","doi-asserted-by":"crossref","first-page":"1251","DOI":"10.1182\/blood-2014-02-482612","article-title":"How we evaluate and treat neutropenia in adults","volume":"124","author":"Gibson","year":"2014","journal-title":"Blood"},{"key":"10.1016\/j.mrrev.2023.108476_bib12","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/j.hoc.2012.10.004","article-title":"ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology","volume":"27","author":"Horwitz","year":"2013","journal-title":"Hematol. Oncol. Clin. North Am."},{"key":"10.1016\/j.mrrev.2023.108476_bib13","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1097\/MOH.0000000000000305","article-title":"An update on the diagnosis and treatment of chronic idiopathic neutropenia","volume":"24","author":"Dale","year":"2017","journal-title":"Curr. Opin. Hematol."},{"key":"10.1016\/j.mrrev.2023.108476_bib14","doi-asserted-by":"crossref","unstructured":"Donadieu J., Beaupain B., Fenneteau O., Bellann\u00e9-Chantelot C. Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history. Br. J. Haematol. 179: 557\u2013574.","DOI":"10.1111\/bjh.14887"},{"key":"10.1016\/j.mrrev.2023.108476_bib15","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0157385","article-title":"Neutropenia as an adverse event following vaccination: results from randomized clinical trials in healthy adults and systematic review","volume":"11","author":"Muturi-Kioi","year":"2016","journal-title":"PLOS One"},{"key":"10.1016\/j.mrrev.2023.108476_bib16","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1002\/ajh.25374","article-title":"Neutropenia in the age of genetic testing: Advances and challenges","volume":"94","author":"Furutani","year":"2019","journal-title":"Am. J. Hematol."},{"key":"10.1016\/j.mrrev.2023.108476_bib17","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1002\/pbc.26722","article-title":"How to differentiate congenital from noncongenital chronic neutropenia at the first medical examination? Proposal of score: a pilot study from the French severe chronic neutropenia registry","volume":"64","author":"Bejjani","year":"2017","journal-title":"Pediatr. Blood Cancer"},{"key":"10.1016\/j.mrrev.2023.108476_bib18","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1002\/pbc.22537","article-title":"Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: evidence for phenotype determination by modifying genes","volume":"55","author":"Newburger","year":"2010","journal-title":"Pediatr. Blood Cancer"},{"key":"10.1016\/j.mrrev.2023.108476_bib19","doi-asserted-by":"crossref","first-page":"4119","DOI":"10.1182\/blood-2003-10-3518","article-title":"Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register","volume":"103","author":"Bellann\u00e9-Chantelot","year":"2004","journal-title":"Blood"},{"issue":"5","key":"10.1016\/j.mrrev.2023.108476_bib20","doi-asserted-by":"crossref","first-page":"908","DOI":"10.1111\/bjh.17695","article-title":"French Severe Chronic Neutropenia Registry. Recurrent bacterial infections, but not fungal infections, characterise patients with ELANE-related neutropenia: a French Severe Chronic Neutropenia Registry study","volume":"194","author":"Rotulo","year":"2021","journal-title":"Br. J. Haematol."},{"key":"10.1016\/j.mrrev.2023.108476_bib21","doi-asserted-by":"crossref","DOI":"10.1186\/s12881-020-0971-z","article-title":"Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss","volume":"21","author":"Venugopal","year":"2020","journal-title":"BMC Med Genet"},{"key":"10.1016\/j.mrrev.2023.108476_bib22","doi-asserted-by":"crossref","first-page":"14739","DOI":"10.1016\/S0021-9258(18)68099-8","article-title":"Structure of the human neutrophil elastase gene","volume":"263","author":"Takahashi","year":"1988","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mrrev.2023.108476_bib23","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1038\/nri1841","article-title":"Neutrophil serine proteases: specific regulators of inflammation","volume":"6","author":"Pham","year":"2006","journal-title":"Nat. Rev. Immunol."},{"issue":"2","key":"10.1016\/j.mrrev.2023.108476_bib24","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1182\/blood-2005-11-4689","article-title":"Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response","volume":"108","author":"K\u00f6llner","year":"2006","journal-title":"Blood"},{"issue":"13","key":"10.1016\/j.mrrev.2023.108476_bib25","doi-asserted-by":"crossref","first-page":"4179","DOI":"10.1182\/blood-2006-11-057299","article-title":"Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis","volume":"110","author":"Grenda","year":"2007","journal-title":"Blood"},{"key":"10.1016\/j.mrrev.2023.108476_bib26","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1146\/annurev.pathmechdis.3.121806.151434","article-title":"Endoplasmic reticulum stress in disease pathogenesis","volume":"3","author":"Lin","year":"2008","journal-title":"Annu Rev. Pathol."},{"issue":"7203","key":"10.1016\/j.mrrev.2023.108476_bib27","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1038\/nature07203","article-title":"From endoplasmic-reticulum stress to the inflammatory response","volume":"454","author":"Zhang","year":"2008","journal-title":"Nature"},{"key":"10.1016\/j.mrrev.2023.108476_bib28","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1038\/nrm2199","article-title":"Signal integration in the endoplasmic reticulum unfolded protein response","volume":"8","author":"Ron","year":"2007","journal-title":"Nat. Rev. Mol. Cell Biol."},{"issue":"3","key":"10.1016\/j.mrrev.2023.108476_bib29","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1182\/bloodadvances.2020003214","article-title":"PML-controlled responses in severe congenital neutropenia with ELANE-misfolding mutations","volume":"5","author":"Olofsen","year":"2021","journal-title":"Blood Adv."},{"key":"10.1016\/j.mrrev.2023.108476_bib30","article-title":"Neutrophil elastase defects in congenital neutropenia","volume":"22","author":"Rydzy\u0144ska","year":"2021","journal-title":"Front. Immunol."},{"issue":"6","key":"10.1016\/j.mrrev.2023.108476_bib31","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1016\/S0968-0004(98)01208-0","article-title":"A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance","volume":"23","author":"Nagy","year":"1998","journal-title":"Trends Biochem Sci."},{"issue":"8","key":"10.1016\/j.mrrev.2023.108476_bib32","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1016\/S1673-8527(07)60076-9","article-title":"The BLOC interactomes form a network in endosomal transport","volume":"34","author":"Li","year":"2007","journal-title":"J. Genet. Genom. = Yi chuan xue bao"},{"issue":"4","key":"10.1016\/j.mrrev.2023.108476_bib33","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/j.molmed.2004.02.002","article-title":"Hereditary neutropenia: dogs explain human neutrophil elastase mutations","volume":"10","author":"Horwitz","year":"2004","journal-title":"Trends Mol. Med"},{"issue":"4","key":"10.1016\/j.mrrev.2023.108476_bib34","doi-asserted-by":"crossref","first-page":"562","DOI":"10.1182\/blood-2013-07-513242","article-title":"Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms","volume":"123","author":"Tidwell","year":"2014","journal-title":"Blood"},{"key":"10.1016\/j.mrrev.2023.108476_bib35","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1111\/j.1651-2227.1956.tb06875.x","article-title":"Infantile Genetic Agranulocytosis (Agranulocytosis infantilis hereditaria) A New Recessive Lethal Disease in Man","volume":"45","author":"Kostmann","year":"1956","journal-title":"Acta Pzediatrica"},{"key":"10.1016\/j.mrrev.2023.108476_bib36","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1111\/j.1365-2796.2008.01982.x","article-title":"Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations","volume":"264","author":"Carlsson","year":"2008","journal-title":"J. Intern. Med."},{"key":"10.1016\/j.mrrev.2023.108476_bib37","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1182\/blood-2006-02-004275","article-title":"Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: results of a long-term survey","volume":"109","author":"Germeshausen","year":"2007","journal-title":"Blood"},{"issue":"1","key":"10.1016\/j.mrrev.2023.108476_bib38","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1038\/ng1940","article-title":"HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)","volume":"39","author":"Klein","year":"2007","journal-title":"Nat. Genet"},{"issue":"7183","key":"10.1016\/j.mrrev.2023.108476_bib39","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1038\/nature06604","article-title":"Hax1-mediated processing of HtrA2 by Parl allows survival of lymphocytes and neurons","volume":"452","author":"Chao","year":"2008","journal-title":"Nature"},{"issue":"10","key":"10.1016\/j.mrrev.2023.108476_bib40","doi-asserted-by":"crossref","first-page":"1550","DOI":"10.1038\/nm.2958","article-title":"Interactions among HCLS1, HAX1 and LEF-1 proteins are essential for G-CSF-triggered granulopoiesis","volume":"18","author":"Skokowa","year":"2012","journal-title":"Nat. Med"},{"key":"10.1016\/j.mrrev.2023.108476_bib41","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1091\/mbc.e08-06-0587","article-title":"The anti-apoptotic protein HAX-1 interacts with SERCA2 and regulates its protein levels to promote cell survival","volume":"20","author":"Vafiadaki","year":"2009","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.mrrev.2023.108476_bib42","doi-asserted-by":"crossref","first-page":"4017","DOI":"10.1073\/pnas.97.8.4017","article-title":"The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton","volume":"97","author":"Gallagher","year":"2000","journal-title":"Proc. Natl. Acad. Sci."},{"key":"10.1016\/j.mrrev.2023.108476_bib43","doi-asserted-by":"crossref","first-page":"49406","DOI":"10.1074\/jbc.M408836200","article-title":"G\u03b113 stimulates cell migration through cortactin-interacting protein Hax-1","volume":"279","author":"Radhika","year":"2004","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mrrev.2023.108476_bib44","doi-asserted-by":"crossref","first-page":"14501","DOI":"10.1073\/pnas.0603545103","article-title":"Intracellular IL-1\u03b1 binding proteins contribute to biological functions of endogenous IL-1\u03b1in systemic sclerosis fibroblasts","volume":"103","author":"Kawaguchi","year":"2006","journal-title":"Proc. Natl. Acad. Sci."},{"key":"10.1016\/j.mrrev.2023.108476_bib45","doi-asserted-by":"crossref","first-page":"5275","DOI":"10.1158\/0008-5472.CAN-07-0318","article-title":"HS1-associated protein X-1 regulates carcinoma cell migration and invasion via clathrin-mediated endocytosis of integrin \u03b1v\u03b26","volume":"67","author":"Ramsay","year":"2007","journal-title":"Cancer Res"},{"key":"10.1016\/j.mrrev.2023.108476_bib46","doi-asserted-by":"crossref","first-page":"5017","DOI":"10.1093\/nar\/gkf656","article-title":"The 3 untranslated region of human vimentin mRNA interacts with protein complexes containing eEF-1gamma and HAX-1","volume":"30","author":"Al-Maghrebi","year":"2002","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.mrrev.2023.108476_bib47","doi-asserted-by":"crossref","first-page":"5499","DOI":"10.1093\/nar\/gkm502","article-title":"Hairpin structure within the 3 UTR of DNA polymerase \u03b2 mRNA acts as a post-transcriptional regulatory element and interacts with Hax-1","volume":"35","author":"Sarnowska","year":"2007","journal-title":"Nucleic Acids Res"},{"issue":"50","key":"10.1016\/j.mrrev.2023.108476_bib48","doi-asserted-by":"crossref","first-page":"39108","DOI":"10.1074\/jbc.M110.151753","article-title":"MST1 promotes apoptosis through phosphorylation of histone H2AX","volume":"285","author":"Wen","year":"2010","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mrrev.2023.108476_bib49","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1016\/S0960-9822(02)00683-8","article-title":"Identification of a novel Ras-regulated proapoptotic pathway","volume":"12","author":"Khokhlatchev","year":"2002","journal-title":"Curr. Biol."},{"issue":"11","key":"10.1016\/j.mrrev.2023.108476_bib50","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0008011","article-title":"Mst1-FoxO Signaling Protects Naive T Lymphocytes From Cellular Oxidative Stress in Mice","volume":"4","author":"Choi","year":"2009","journal-title":"PLoS One"},{"issue":"3","key":"10.1016\/j.mrrev.2023.108476_bib51","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1111\/j.1600-0609.2011.01725.x","article-title":"The cellular and molecular mechanisms for neutropenia in Barth syndrome","volume":"88","author":"Makaryan","year":"2012","journal-title":"Eur. J. Haematol."},{"issue":"19","key":"10.1016\/j.mrrev.2023.108476_bib52","doi-asserted-by":"crossref","first-page":"4711","DOI":"10.1182\/blood-2008-09-177287","article-title":"CXCR4 is a key regulator of neutrophil release from the bone marrow under basal and stress granulopoiesis conditions","volume":"113","author":"Eash","year":"2009","journal-title":"Blood"},{"issue":"Suppl Suppl 2","key":"10.1016\/j.mrrev.2023.108476_bib53","article-title":"CXCR4, the master regulator of neutrophil trafficking in homeostasis and disease","volume":"48","author":"Filippo","year":"2018","journal-title":"Eur. J. Clin. Invest"},{"key":"10.1016\/j.mrrev.2023.108476_bib54","doi-asserted-by":"crossref","unstructured":"Paolo A. et al. Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. Nature Genetics, 34(1), 70\u201374.","DOI":"10.1038\/ng1149"},{"issue":"2","key":"10.1016\/j.mrrev.2023.108476_bib55","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1182\/blood-2003-10-3532","article-title":"Altered Leukocyte Response to CXCL12 in Patients With Warts Hypogammaglobulinemia, Infections, Myelokathexis (WHIM) Syndrome","volume":"104","author":"Gulino","year":"2004","journal-title":"Blood"},{"key":"10.1016\/j.mrrev.2023.108476_bib56","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1016\/S1074-7613(02)00424-7","article-title":"G\u2010CSF is an essential regulator of neutrophil trafficking from the bone marrow to the blood","volume":"17","author":"Semerad","year":"2002","journal-title":"Immunity"},{"issue":"3","key":"10.1016\/j.mrrev.2023.108476_bib57","doi-asserted-by":"crossref","first-page":"765","DOI":"10.3324\/haematol.2021.279254","article-title":"Biallelic CXCR2 loss-of-function mutations define a distinct congenital neutropenia entity","volume":"107","author":"Marin-Esteban","year":"2022","journal-title":"Haematologica"},{"issue":"4","key":"10.1016\/j.mrrev.2023.108476_bib58","doi-asserted-by":"crossref","DOI":"10.1590\/S1415-47572013000400007","article-title":"Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib","volume":"vol.36","author":"Carlin","year":"2013","journal-title":"Genet. Mol. Biol."},{"issue":"8","key":"10.1016\/j.mrrev.2023.108476_bib59","doi-asserted-by":"crossref","first-page":"e430","DOI":"10.1097\/MPH.0000000000000857","article-title":"Long-term Outcome of 4 Patients With Transcobalamin Deficiency Caused by 2 Novel TCN2 Mutations","volume":"39","author":"Nashabat","year":"2017","journal-title":"J. Pedia Hematol. Oncol."},{"issue":"7","key":"10.1016\/j.mrrev.2023.108476_bib60","doi-asserted-by":"crossref","first-page":"824","DOI":"10.1002\/humu.22563","article-title":"TCIRG1 associated Congenital Neutropenia","volume":"35","author":"Makaryan","year":"2014","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.mrrev.2023.108476_bib61","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1007\/s00424-007-0382-4","article-title":"ATPase functions in normal and disease processes","volume":"457","author":"Hinton","year":"2009","journal-title":"Pflug. Arch."},{"key":"10.1016\/j.mrrev.2023.108476_bib62","doi-asserted-by":"crossref","first-page":"12397","DOI":"10.1073\/pnas.221291798","article-title":"Arg-735 of the 100-kDa subunit a of the yeast V-ATPase is essential for proton translocation","volume":"98","author":"Kawasaki-Nishi","year":"2001","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.mrrev.2023.108476_bib63","doi-asserted-by":"crossref","first-page":"1484","DOI":"10.1002\/jbmr.355","article-title":"The V-ATPase a3 subunit mutation R740S is dominant negative and results in osteopetrosis in mice","volume":"26","author":"Ochotny","year":"2011","journal-title":"J. Bone Min. Res"},{"key":"10.1016\/j.mrrev.2023.108476_bib64","article-title":"RNAi-mediated silencing of Atp6i and Atp6i haploinsufficiency prevents both bone loss and inflammation in a mouse model of periodontal disease","volume":"8","author":"Jiang","year":"2013","journal-title":"PLoS One"},{"key":"10.1016\/j.mrrev.2023.108476_bib65","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1038\/nm1417","article-title":"Osteoclasts degrade endosteal components and promote mobilization of hematopoietic progenitor cells","volume":"12","author":"Kollet","year":"2006","journal-title":"Nat. Med"},{"key":"10.1016\/j.mrrev.2023.108476_bib66","doi-asserted-by":"crossref","first-page":"2423","DOI":"10.1172\/JCI41649","article-title":"CXCR2 and CXCR4 antagonistically regulate neutrophil trafficking from murine bone marrow","volume":"120","author":"Eash","year":"2010","journal-title":"J. Clin. Invest"},{"issue":"2","key":"10.1016\/j.mrrev.2023.108476_bib67","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1067\/mpd.2000.105232","article-title":"Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type I","volume":"137","author":"Visser","year":"2000","journal-title":"J. Pedia"},{"key":"10.1016\/j.mrrev.2023.108476_bib68","article-title":"Neutrophils to the ROScue: Mechanisms of NADPH Oxidase Activation and Bacterial Resistance","volume":"25","author":"Nguyen","year":"2017","journal-title":"Front. Cell. Infect. Microbiol."},{"issue":"3","key":"10.1016\/j.mrrev.2023.108476_bib69","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1038\/nri3399","article-title":"Neutrophil recruitment and function in health and inflammation","volume":"13","author":"Kolaczkowska","year":"2013","journal-title":"Nat. Rev. Immunol."},{"key":"10.1016\/j.mrrev.2023.108476_bib70","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1124\/pr.110.002733","article-title":"Neutrophil elastase, proteinase 3, and cathepsin G as therapeutic targets in human diseases","volume":"62","author":"Korkmaz","year":"2010","journal-title":"Pharmacol. Rev."},{"key":"10.1016\/j.mrrev.2023.108476_bib71","doi-asserted-by":"crossref","first-page":"1861","DOI":"10.1242\/jcs.00408","article-title":"The unfolded protein response","volume":"116","author":"Yin Liu","year":"2003","journal-title":"J. Cell Sci."},{"issue":"1\u20132","key":"10.1016\/j.mrrev.2023.108476_bib72","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/j.mrfmmm.2004.06.056","article-title":"ER stress and the unfolded protein response","volume":"569","author":"Schr\u00f6der","year":"2005","journal-title":"Mutat. Res"},{"issue":"9","key":"10.1016\/j.mrrev.2023.108476_bib73","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1038\/ng.3069","article-title":"JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia","volume":"46","author":"Boztug","year":"2014","journal-title":"Nat. Genet"},{"issue":"4","key":"10.1016\/j.mrrev.2023.108476_bib74","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1038\/78085","article-title":"EIF2AK3, Encoding Translation Initiation Factor 2-alpha Kinase 3, Is Mutated in Patients With Wolcott-Rallison Syndrome","volume":"25","author":"Del\u00e9pine","year":"2000","journal-title":"Nat. Genet"},{"issue":"9","key":"10.1016\/j.mrrev.2023.108476_bib75","doi-asserted-by":"crossref","first-page":"2391","DOI":"10.1093\/hmg\/ddt630","article-title":"Cohen Syndrome Is Associated With Major Glycosylation Defects","volume":"23","author":"Duplomb","year":"2014","journal-title":"Hum. Mol. Genet"},{"key":"10.1016\/j.mrrev.2023.108476_bib76","doi-asserted-by":"crossref","first-page":"12479","DOI":"10.1074\/jbc.M313271200","article-title":"Histidine 167 Is the Phospate Acceptor in Glucose-6-phosphate-\u03b2 Forming a Phosphohistidine Enzyme Intermediate during Catalysis.","volume":"279","author":"Ghosh","year":"2004","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mrrev.2023.108476_bib77","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1038\/35096075","article-title":"The renaissance of GSK3","volume":"2","author":"Cohen","year":"2001","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.mrrev.2023.108476_bib78","doi-asserted-by":"crossref","first-page":"4328","DOI":"10.1128\/MCB.00153-07","article-title":"Glycogen synthase kinase 3\u03b1 and 3\u03b2 mediate a glucose-sensitive antiapoptotic signaling pathway to stabilize Mcl-1","volume":"27","author":"Zhao","year":"2007","journal-title":"Mol. Cell Biol."},{"issue":"21","key":"10.1016\/j.mrrev.2023.108476_bib79","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1182\/blood.V122.21.439.439","article-title":"Deficiency Of JAGN1 Causes Severe Congenital Neutropenia Associated With Defective Secretory Pathway and Aberrant Myeloid Cell Homeostasis","volume":"122","author":"Boztug","year":"2013","journal-title":"Blood"},{"key":"10.1016\/j.mrrev.2023.108476_sbref78","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/j.jbior.2017.09.002","article-title":"Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome","volume":"67","author":"Warren","year":"2018","journal-title":"Adv. Biol. Regul."},{"issue":"2","key":"10.1016\/j.mrrev.2023.108476_sbref79","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1007\/s40291-018-0368-2","article-title":"Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives","volume":"23","author":"Bezzerri","year":"2019","journal-title":"Mol. Diagn. Ther."},{"key":"10.1016\/j.mrrev.2023.108476_bib81","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2022.898083","article-title":"Signal Recognition Particle in Human Diseases","volume":"13","author":"Kellogg","year":"2022","journal-title":"Front Genet"},{"issue":"12","key":"10.1016\/j.mrrev.2023.108476_bib82","doi-asserted-by":"crossref","first-page":"1318","DOI":"10.1182\/blood-2017-12-820308","article-title":"Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome","volume":"132","author":"Bellann\u00e9-Chantelot","year":"2018","journal-title":"Blood"},{"issue":"11","key":"10.1016\/j.mrrev.2023.108476_bib83","doi-asserted-by":"crossref","first-page":"4090","DOI":"10.1172\/JCI92876","article-title":"Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features","volume":"127","author":"Carapito","year":"2017","journal-title":"J. Clin. Invest"},{"issue":"Issue 6","key":"10.1016\/j.mrrev.2023.108476_bib84","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1182\/blood.2022016783","article-title":"Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes","volume":"Volume 141","author":"Linder","year":"2023","journal-title":"Blood"},{"issue":"4","key":"10.1016\/j.mrrev.2023.108476_bib85","doi-asserted-by":"crossref","first-page":"1216","DOI":"10.3324\/haematol.2020.247825","article-title":"Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia","volume":"106","author":"Schmaltz-Panneau","year":"2021","journal-title":"Haematologica"},{"issue":"5","key":"10.1016\/j.mrrev.2023.108476_bib86","doi-asserted-by":"crossref","first-page":"1180","DOI":"10.1016\/j.jaci.2020.03.034","article-title":"Defective Sec61\u03b11 underlies a novel cause of autosomal dominant severe congenital neutropenia","volume":"146","author":"Van Nieuwenhove","year":"2020","journal-title":"J. Allergy Clin. Immunol."},{"issue":"10","key":"10.1016\/j.mrrev.2023.108476_bib87","doi-asserted-by":"crossref","first-page":"3503","DOI":"10.1182\/blood.V89.10.3503","article-title":"Granules of the Human Neutrophilic Polymorphonuclear Leukocyte","volume":"89","author":"Borregaard","year":"1997","journal-title":"Blood"},{"issue":"25","key":"10.1016\/j.mrrev.2023.108476_bib88","doi-asserted-by":"crossref","first-page":"5078","DOI":"10.1182\/blood-2012-12-475566","article-title":"The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy","volume":"121","author":"Stepensky","year":"2013","journal-title":"Blood"},{"issue":"4","key":"10.1016\/j.mrrev.2023.108476_bib89","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.1182\/blood.V84.4.1201.1201","article-title":"Differential expression of bcl-2 and susceptibility to anti-Fas-mediated cell death in peripheral blood lymphocytes, monocytes, and neutrophils","volume":"vol. 84","author":"Iwai","year":"1994","journal-title":"Blood"},{"issue":"1","key":"10.1016\/j.mrrev.2023.108476_bib90","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1182\/blood-2005-11-4377","article-title":"Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2","volume":"108","author":"Jung","year":"2006","journal-title":"Blood"},{"issue":"1","key":"10.1016\/j.mrrev.2023.108476_bib91","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1182\/blood-2005-11-4413","article-title":"Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II","volume":"108","author":"Enders","year":"2006","journal-title":"Blood"},{"issue":"1","key":"10.1016\/j.mrrev.2023.108476_bib92","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1097\/ACI.0000000000000126","article-title":"GATA2 deficiency","volume":"15","author":"Hsu","year":"2015","journal-title":"Curr. Opin. Allergy Clin. Immunol."},{"key":"10.1016\/j.mrrev.2023.108476_bib93","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/S1074-7613(02)00501-0","article-title":"Intrinsic requirement for zinc finger transcription factor Gfi-1 in neutrophil differentiation","volume":"18","author":"Hock","year":"2003","journal-title":"Immunity"},{"key":"10.1016\/j.mrrev.2023.108476_bib94","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1016\/j.immuni.2007.12.020","article-title":"Mutations in growth factor independent-1 associated with human neutropenia block murine granulopoiesis through colony stimulating factor-1","volume":"28","author":"Zarebski","year":"2008","journal-title":"Immunity"},{"key":"10.1016\/j.mrrev.2023.108476_bib95","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1146\/annurev-immunol-030409-101259","article-title":"Genetic Defects in Severe Congenital Neutropenia: Emerging Insights into Life and Death of Human Neutrophil Granulocytes","volume":"29","author":"Klein","year":"2011","journal-title":"Annu. Rev. Immunol."},{"issue":"8","key":"10.1016\/j.mrrev.2023.108476_bib96","doi-asserted-by":"crossref","first-page":"2581","DOI":"10.1182\/bloodadvances.2021006398","article-title":"Lymphocyte cytosolic protein 1 (L-plastin) I232F mutation impairs granulocytic proliferation and causes neutropenia","volume":"6","author":"Mahat","year":"2022","journal-title":"Blood Adv."},{"key":"10.1016\/j.mrrev.2023.108476_bib97","doi-asserted-by":"crossref","DOI":"10.1016\/j.jaci.2023.02.016","article-title":"Homozygous DBF4 mutation as a cause of severe congenital neutropenia","author":"Willemsen","year":"2023","journal-title":"J. Allergy Clin. Immunol."},{"issue":"5","key":"10.1016\/j.mrrev.2023.108476_bib98","doi-asserted-by":"crossref","first-page":"1991","DOI":"10.1172\/JCI90727","article-title":"Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency","volume":"127","author":"Cottineau","year":"2017","journal-title":"J. Clin. Invest"},{"issue":"12","key":"10.1016\/j.mrrev.2023.108476_bib99","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1008494","article-title":"Defects in the GINS complex increase the instability of repetitive sequences via a recombination-dependent mechanism","volume":"15","author":"Jedrychowska","year":"2019","journal-title":"PLoS Genet"},{"issue":"5","key":"10.1016\/j.mrrev.2023.108476_bib100","doi-asserted-by":"crossref","first-page":"1056","DOI":"10.1182\/blood.V75.5.1056.1056","article-title":"Differential effects of granulocyte-macrophage colony-stimulating factor and granulocyte colony-stimulating factor in children with severe congenital neutropenia","volume":"75","author":"Welte","year":"1990","journal-title":"Blood"},{"key":"10.1016\/j.mrrev.2023.108476_bib101","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1097\/MOH.0000000000000105","article-title":"The diversity of mutations and clinical outcomes for ELANE-associated neutropenia","volume":"22","author":"Makaryan","year":"2015","journal-title":"Curr. Opin. Hematol."},{"key":"10.1016\/j.mrrev.2023.108476_bib102","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1186\/1750-1172-6-26","article-title":"Congenital neutropenia: diagnosis, molecular bases and patient management","volume":"6","author":"Donadieu","year":"2011","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.mrrev.2023.108476_bib103","article-title":"Severe congenital neutropenias","volume":"3","author":"Skokowa","year":"2017","journal-title":"Nat. Rev. Dis. Prim."},{"key":"10.1016\/j.mrrev.2023.108476_bib104","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1053\/shem.2002.31916","article-title":"Neutropenia associated with primary immunodeficiency syndromes","volume":"39","author":"Cham","year":"2002","journal-title":"Semin Hematol."},{"key":"10.1016\/j.mrrev.2023.108476_bib105","unstructured":"Massaad M.J., Ramesh N. and Geha R.S. Wiskott-Aldrich syndrome: a comprehensive review. Ann. N.Y. Acad. Sci. ISSN 0077\u20138923."},{"key":"10.1016\/j.mrrev.2023.108476_bib106","doi-asserted-by":"crossref","first-page":"15739","DOI":"10.1038\/s41598-019-51922-2","article-title":"Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation","volume":"volume 9","author":"Ghaloul-Gonzalez","year":"2019","journal-title":"Sci. Rep."},{"issue":"1","key":"10.1016\/j.mrrev.2023.108476_bib107","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1097\/MOH.0b013e32831ac557","article-title":"WHIM Syndrome: Congenital Immune Deficiency Disease","volume":"16","author":"Kawai","year":"2009","journal-title":"Curr. Opin. Hematol."},{"key":"10.1016\/j.mrrev.2023.108476_bib108","article-title":"IRAK4 Deficiency in a Patient with Recurrent Pneumococcal Infections: Case Report and Review of the Literature","volume":"5","author":"Gobin","year":"2017","journal-title":"Front Pedia"},{"issue":"10","key":"10.1016\/j.mrrev.2023.108476_bib109","doi-asserted-by":"crossref","first-page":"4954","DOI":"10.1182\/blood-2007-11-120667","article-title":"Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations","volume":"111","author":"Germeshausen","year":"2008","journal-title":"Blood"},{"key":"10.1016\/j.mrrev.2023.108476_bib110","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1007\/s00431-010-1151-5","article-title":"Kostmann disease with developmental delay in three patients","volume":"volume 169","author":"Aytekin","year":"2010","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.mrrev.2023.108476_bib111","doi-asserted-by":"crossref","first-page":"1705","DOI":"10.1038\/s41436-021-01194-x","article-title":"Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency","volume":"volume 23","author":"Wortmann","year":"2021","journal-title":"Genet. Med."},{"key":"10.1016\/j.mrrev.2023.108476_bib112","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1182\/blood.2021010762","article-title":"Heterozygous variants of CLPB are a cause of severe congenital neutropenia","volume":"139","author":"Warren","year":"2022","journal-title":"Blood"},{"issue":"Pt 5","key":"10.1016\/j.mrrev.2023.108476_bib113","doi-asserted-by":"crossref","first-page":"1395","DOI":"10.1093\/brain\/aws061","article-title":"Dynamin 2 mutations in Charcot-Marie-Tooth neuropathy highlight the importance of clathrin-mediated endocytosis in myelination","volume":"135","author":"Sidiropoulos","year":"2012","journal-title":"Brain"},{"key":"10.1016\/j.mrrev.2023.108476_bib114","doi-asserted-by":"crossref","first-page":"1741","DOI":"10.1093\/brain\/awp115","article-title":"Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy","volume":"132","author":"Claeys","year":"2009","journal-title":"Brain"},{"key":"10.1016\/j.mrrev.2023.108476_bib115","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1136\/jmg.40.4.233","article-title":"Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome","volume":"40","author":"Chandler","year":"2003","journal-title":"J. Med Genet"},{"issue":"5","key":"10.1016\/j.mrrev.2023.108476_bib116","doi-asserted-by":"crossref","DOI":"10.1136\/jmg.2005.039867","article-title":"Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome","volume":"43","author":"Seifert","year":"2006","journal-title":"J. Med Genet"},{"issue":"6","key":"10.1016\/j.mrrev.2023.108476_bib117","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1016\/S0025-6196(11)61181-6","article-title":"Cartilage-hair hypoplasia","volume":"82","author":"Matesic","year":"2007","journal-title":"Mayo Clin. Proc."},{"issue":"22","key":"10.1016\/j.mrrev.2023.108476_bib118","doi-asserted-by":"crossref","first-page":"2675","DOI":"10.1002\/ajmg.a.32053","article-title":"Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability","volume":"143A","author":"Nakashima","year":"2007","journal-title":"Am. J. Med Genet A"},{"key":"10.1016\/j.mrrev.2023.108476_bib119","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-014-0183-8","article-title":"Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry","volume":"9","author":"Desplantes","year":"2014","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.mrrev.2023.108476_bib120","article-title":"Cardiomyopathy in a male patient with neutropenia and growth delay","volume":"40","author":"Folsi","year":"2014","journal-title":"Ital. J. Pedia"},{"issue":"1","key":"10.1016\/j.mrrev.2023.108476_bib121","article-title":"Liver and Cardiac Involvement in Shwachman-Diamond Syndrome: A Literature Review","volume":"12","author":"Lawal","year":"2020","journal-title":"Cureus"},{"issue":"4","key":"10.1016\/j.mrrev.2023.108476_bib122","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1016\/j.jpeds.2012.05.058","article-title":"Tetralogy of fallot is an uncommon manifestation of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome","volume":"161","author":"Badolato","year":"2012","journal-title":"J. Pedia"},{"issue":"15","key":"10.1016\/j.mrrev.2023.108476_bib123","doi-asserted-by":"crossref","first-page":"3450","DOI":"10.1182\/blood-2011-09-378158","article-title":"The phenotype of human STK4 deficiency","volume":"119","author":"Abdollahpour","year":"2012","journal-title":"Blood"},{"issue":"2","key":"10.1016\/j.mrrev.2023.108476_bib124","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1016\/j.hoc.2009.01.007","article-title":"Shwachman Diamond Syndrome \u2013 a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment","volume":"23","author":"Burroughs","year":"2009","journal-title":"Hematol. Oncol. Clin. North Am."},{"key":"10.1016\/j.mrrev.2023.108476_bib125","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1046\/j.1365-2141.2002.03585.x","article-title":"Shwachman-diamond syndrome","volume":"118","author":"Dror","year":"2002","journal-title":"Br. J. Haematol."},{"key":"10.1016\/j.mrrev.2023.108476_bib126","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1002\/pbc.21550","article-title":"Shwachman-Diamond syndrome presenting in a premature infant as pancytopenia","volume":"51","author":"Black","year":"2008","journal-title":"Pedia Blood Cancer"},{"key":"10.1016\/j.mrrev.2023.108476_bib127","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1186\/1750-1172-5-29","article-title":"Wolcott-Rallison syndrome","volume":"volume 5","author":"Julier","year":"2010","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.mrrev.2023.108476_bib128","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1007\/s10545-013-9664-5","article-title":"Update on transcobalamin deficiency: clinical presentation, treatment and outcome","volume":"volume 37","author":"Trakadis","year":"2014","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.mrrev.2023.108476_bib129","doi-asserted-by":"crossref","unstructured":"Kose E., Besci O., Gudeloglu E. et al. Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature. Journal of Pediatric Endocrinology and Metabolism, Volume 33: Issue 11.","DOI":"10.1515\/jpem-2020-0096"},{"key":"10.1016\/j.mrrev.2023.108476_bib130","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1002\/ajmg.c.31372","article-title":"Barth Syndrome","volume":"163C","author":"Jefferies","year":"2013","journal-title":"Am. J. Med. Genet. Part C."},{"issue":"1","key":"10.1016\/j.mrrev.2023.108476_bib131","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1097\/MOH.0b013e328331df85","article-title":"Neutropenia in type Ib glycogen storage disease","volume":"17","author":"Chou","year":"2010","journal-title":"Curr. Opin. Hematol."},{"issue":"1","key":"10.1016\/j.mrrev.2023.108476_bib132","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1056\/NEJMoa0805051","article-title":"A syndrome with congenital neutropenia and mutations in G6PC3","volume":"360","author":"Boztug","year":"2009","journal-title":"N. Engl. J. Med"},{"issue":"10","key":"10.1016\/j.mrrev.2023.108476_bib133","doi-asserted-by":"crossref","first-page":"1402","DOI":"10.1002\/humu.23271","article-title":"Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils","volume":"38","author":"de Boer","year":"2017","journal-title":"Hum. Mutat."},{"issue":"1","key":"10.1016\/j.mrrev.2023.108476_bib134","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1038\/nm1528","article-title":"A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14","volume":"13","author":"Bohn","year":"2007","journal-title":"Nat. Med"},{"key":"10.1016\/j.mrrev.2023.108476_bib135","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1186\/s13023-014-0132-6","article-title":"Towards the targeted management of Chediak-Higashi syndrome","volume":"volume 9","author":"Lozano","year":"2014","journal-title":"Orphanet J. Rare Dis."},{"issue":"4","key":"10.1016\/j.mrrev.2023.108476_bib136","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1002\/pbc.22357","article-title":"Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations","volume":"54","author":"Meeths","year":"2010","journal-title":"Pedia Blood Cancer"},{"key":"10.1016\/j.mrrev.2023.108476_bib137","doi-asserted-by":"crossref","unstructured":"Concolino D., Roversi G., Muzzi G.L. et al. Clericuzio\u2010type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: Delineation of the phenotype. Am J Med Genet Part A 152A:2588\u20132594.","DOI":"10.1002\/ajmg.a.33600"},{"issue":"12","key":"10.1016\/j.mrrev.2023.108476_bib138","doi-asserted-by":"crossref","DOI":"10.1371\/journal.ppat.1006039","article-title":"The CXCL12\/CXCR4 Signaling Pathway: A New Susceptibility Factor in Human Papillomavirus Pathogenesis","volume":"12","author":"Meuris","year":"2016","journal-title":"PLoS Pathog."},{"issue":"5","key":"10.1016\/j.mrrev.2023.108476_bib139","doi-asserted-by":"crossref","first-page":"1182","DOI":"10.1111\/bjd.12794","article-title":"Generalized verrucosis in a patient with GATA2 deficiency","volume":"170","author":"West","year":"2014","journal-title":"Br. J. Dermatol."},{"issue":"15","key":"10.1016\/j.mrrev.2023.108476_bib140","doi-asserted-by":"crossref","first-page":"3450","DOI":"10.1182\/blood-2011-09-378158","article-title":"The phenotype of human STK4 deficiency","volume":"119","author":"Abdollahpour","year":"2012","journal-title":"Blood"},{"issue":"9","key":"10.1016\/j.mrrev.2023.108476_bib141","doi-asserted-by":"crossref","first-page":"2354","DOI":"10.1016\/j.ajpath.2015.05.018","article-title":"Novel CARD11 Mutations in Human Cutaneous Squamous Cell Carcinoma Lead to Aberrant NF-\u03baB Regulation","volume":"185","author":"Watt","year":"2015","journal-title":"Am. J. Pathol."},{"key":"10.1016\/j.mrrev.2023.108476_bib142","doi-asserted-by":"crossref","first-page":"1278","DOI":"10.3324\/haematol.2017.181909","article-title":"Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients","volume":"103","author":"Donadieu","year":"2018","journal-title":"Haematologica"},{"issue":"9","key":"10.1016\/j.mrrev.2023.108476_bib143","doi-asserted-by":"crossref","first-page":"1312","DOI":"10.3324\/haematol.2011.057489","article-title":"Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome","volume":"97","author":"Donadieu","year":"2012","journal-title":"Haematologica"},{"key":"10.1016\/j.mrrev.2023.108476_bib144","doi-asserted-by":"crossref","first-page":"1614","DOI":"10.1038\/s41409-020-0800-1","article-title":"HSCT may lower leukemia risk in ELANE neutropenia: a before-after study from the French Severe Congenital Neutropenia Registry","volume":"55","author":"Rotulo","year":"2020","journal-title":"Bone Marrow Transplant."},{"key":"10.1016\/j.mrrev.2023.108476_bib145","doi-asserted-by":"crossref","first-page":"1130","DOI":"10.3324\/haematol.2014.110288","article-title":"How we diagnose neutropenia in the adult and elderly patient","volume":"99","author":"Palmblad","year":"2014","journal-title":"Haematologica"},{"key":"10.1016\/j.mrrev.2023.108476_bib146","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1097\/MOH.0000000000000479","article-title":"Mechanisms of leukemic transformation in congenital neutropenia","volume":"26","author":"Link","year":"2019","journal-title":"Curr. Opin. Hematol."},{"key":"10.1016\/j.mrrev.2023.108476_bib147","first-page":"45","article-title":"Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia","volume":"90","author":"Donadieu","year":"2005","journal-title":"Exp. Fr. Sev. Chronic Neutropenia Study Group. Haematol."},{"key":"10.1016\/j.mrrev.2023.108476_bib148","first-page":"139","article-title":"RUNX1 Mutations in the Leukemic Progression of Severe Congenital Neutropenia","volume":"43","author":"Olofsen","year":"2020","journal-title":"Mol. Cells"},{"key":"10.1016\/j.mrrev.2023.108476_bib149","doi-asserted-by":"crossref","first-page":"1334","DOI":"10.1038\/s41467-021-21588-4","article-title":"Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome","volume":"12","author":"Kennedy","year":"2021","journal-title":"Nat. Commun."},{"key":"10.1016\/j.mrrev.2023.108476_bib150","doi-asserted-by":"crossref","DOI":"10.1038\/s41467-021-21588-4","article-title":"Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome","volume":"12","author":"Kennedy","year":"2021","journal-title":"Nat. Commun."},{"key":"10.1016\/j.mrrev.2023.108476_bib151","doi-asserted-by":"crossref","DOI":"10.1038\/s41467-021-24999-5","article-title":"Somatic genetic rescue of a germline ribosome assembly defect","volume":"12","author":"Tan","year":"2021","journal-title":"Nat. Commun."},{"key":"10.1016\/j.mrrev.2023.108476_bib152","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1182\/bloodadvances.2021005065","article-title":"ASXL1 and STAG2 are common mutations in GATA2 deficiency patients with bone marrow disease and myelodysplastic syndrome","volume":"6","author":"West","year":"2022","journal-title":"Blood Adv."},{"key":"10.1016\/j.mrrev.2023.108476_bib153","doi-asserted-by":"crossref","first-page":"5071","DOI":"10.1182\/blood-2012-01-406116","article-title":"Sequential gain of mutations in severe congenital neutropenia progressing to acute myeloid leukemia","volume":"119","author":"Beekman","year":"2012","journal-title":"Blood"},{"key":"10.1016\/j.mrrev.2023.108476_bib154","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1111\/j.1365-2141.2010.08216.x","article-title":"Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy","volume":"150","author":"Rosenberg","year":"2010","journal-title":"Br. J. Haematol."},{"key":"10.1016\/j.mrrev.2023.108476_bib155","doi-asserted-by":"crossref","first-page":"1106","DOI":"10.1182\/blood.V118.21.1106.1106","article-title":"Update on the risk of secondary leukemia in genetic subgroups of congenital neutropenia in Europe","volume":"118","author":"Zeidler","year":"2011","journal-title":"Blood"},{"key":"10.1016\/j.mrrev.2023.108476_bib156","doi-asserted-by":"crossref","first-page":"4628","DOI":"10.1182\/blood-2005-11-4370","article-title":"The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy","volume":"107","author":"Rosenberg","year":"2006","journal-title":"Blood"},{"key":"10.1016\/j.mrrev.2023.108476_bib157","doi-asserted-by":"crossref","first-page":"1648","DOI":"10.1182\/blood-2007-03-081216","article-title":"Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia","volume":"110","author":"Link","year":"2007","journal-title":"Blood"},{"key":"10.1016\/j.mrrev.2023.108476_bib158","first-page":"383","article-title":"Oral manifestations of cyclic neutropenia in a Japanese child: case report with a 5-year follow-up","volume":"25","author":"Nakai","year":"2003","journal-title":"Pediatr. Dent."},{"key":"10.1016\/j.mrrev.2023.108476_bib159","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/j.exphem.2016.10.008","article-title":"Granulocyte colony-stimulating factor receptor signaling in severe congenital neutropenia, chronic neutrophilic leukemia, and related malignancies","volume":"46","author":"Dwivedi","year":"2017","journal-title":"Exp. Hematol."},{"key":"10.1016\/j.mrrev.2023.108476_bib160","doi-asserted-by":"crossref","first-page":"1614","DOI":"10.1038\/s41409-020-0800-1","article-title":"HSCT may lower leukemia risk in ELANE neutropenia: a before\u2013after study from the French Severe Congenital Neutropenia Registry","volume":"55","author":"Rotulo","year":"2020","journal-title":"Bone Marrow Transplant."},{"key":"10.1016\/j.mrrev.2023.108476_bib161","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1056\/NEJMoa1808575","article-title":"Plerixafor for the treatment of WHIM syndrome","volume":"380","author":"McDermott","year":"2019","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.mrrev.2023.108476_bib162","doi-asserted-by":"crossref","first-page":"598","DOI":"10.3324\/haematol.2019.221804","article-title":"CRISPR\/Cas9-mediated ELANE Knockout Enables Neutrophilic Maturation of Primary Hematopoietic Stem and Progenitor Cells and Induced Pluripotent Stem Cells of Severe Congenital Neutropenia Patients","volume":"105","author":"Nasri","year":"2020","journal-title":"Haematologica"},{"key":"10.1016\/j.mrrev.2023.108476_bib163","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1182\/blood.2019004465","article-title":"Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor","volume":"136","author":"Wortmann","year":"2020","journal-title":"Blood"},{"key":"10.1016\/j.mrrev.2023.108476_bib164","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1002\/jimd.12509","article-title":"Successful use of empagliflozin to treat neutropenia in two G6PC3-deficient children: impact of a mutation in SGLT5","volume":"45","author":"Boulanger","year":"2022","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.mrrev.2023.108476_bib165","doi-asserted-by":"crossref","first-page":"1781","DOI":"10.1016\/j.gim.2022.04.001","article-title":"Efficacy and safety of empagliflozin in glycogen storage disease type Ib: data from an international questionnaire","volume":"24","author":"Grunert","year":"2022","journal-title":"Genet. Med."},{"key":"10.1016\/j.mrrev.2023.108476_bib166","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-022-02345-2","article-title":"Understanding the role of SGLT2 inhibitors in glycogen storage disease type Ib: the experience of one UK center","volume":"17","author":"Halligan","year":"2022","journal-title":"Orphanet J. Rare Dis."}],"container-title":["Mutation Research - Reviews in Mutation Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1383574223000248?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1383574223000248?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,5,23]],"date-time":"2024-05-23T22:22:17Z","timestamp":1716502937000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1383574223000248"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1]]},"references-count":167,"alternative-id":["S1383574223000248"],"URL":"https:\/\/doi.org\/10.1016\/j.mrrev.2023.108476","relation":{},"ISSN":["1383-5742"],"issn-type":[{"value":"1383-5742","type":"print"}],"subject":[],"published":{"date-parts":[[2024,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Congenital neutropenia: From lab bench to clinic bedside and back","name":"articletitle","label":"Article Title"},{"value":"Mutation Research - Reviews in Mutation Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.mrrev.2023.108476","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 The Author(s). Published by Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"108476"}}