{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,26]],"date-time":"2025-09-26T00:12:23Z","timestamp":1758845543578,"version":"3.44.0"},"reference-count":82,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2018,10,1]],"date-time":"2018-10-01T00:00:00Z","timestamp":1538352000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,10,1]],"date-time":"2018-10-01T00:00:00Z","timestamp":1538352000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jacionline.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Allergy and Clinical Immunology"],"published-print":{"date-parts":[[2018,10]]},"DOI":"10.1016\/j.jaci.2018.08.016","type":"journal-article","created":{"date-parts":[[2018,8,29]],"date-time":"2018-08-29T12:36:11Z","timestamp":1535546171000},"page":"1041-1051","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"title":["Advances and highlights in primary immunodeficiencies in 2017"],"prefix":"10.1016","volume":"142","author":[{"given":"Javier","family":"Chinen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Morton J.","family":"Cowan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaci.2018.08.016_bib1","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1016\/j.jaci.2016.10.047","article-title":"I\u03baBNS enhances follicular helper T-cell differentiation and function downstream of ASCL2","volume":"140","author":"Hosokawa","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib2","doi-asserted-by":"crossref","first-page":"520","DOI":"10.3389\/fimmu.2016.00520","article-title":"Regulators of Tfh cell differentiation","volume":"7","author":"Jogdand","year":"2016","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib3","doi-asserted-by":"crossref","first-page":"1529","DOI":"10.1084\/jem.20150402","article-title":"TSLP-activated dendritic cells induce human T follicular helper cell differentiation through OX40-ligand","volume":"214","author":"Pattarini","year":"2017","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2018.08.016_bib4","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/j.jaci.2016.09.042","article-title":"Human regulatory B cells control the TFH cell response","volume":"140","author":"Achour","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib5","doi-asserted-by":"crossref","first-page":"2305","DOI":"10.4049\/jimmunol.1700833","article-title":"ADAM10-mediated ICOS ligand shedding on B cells is necessary for proper t cell ICOS regulation and T follicular helper responses","volume":"199","author":"Lownik","year":"2017","journal-title":"J Immunol"},{"issue":"suppl\u00a01","key":"10.1016\/j.jaci.2018.08.016_bib6","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1007\/s10875-016-0257-6","article-title":"Human T follicular helper cells in primary immunodeficiency: quality just as important as quantity","volume":"36","author":"Ma","year":"2016","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib7","doi-asserted-by":"crossref","first-page":"1285","DOI":"10.1016\/j.jaci.2018.01.039","article-title":"Loss-of-function nuclear factor \u03baB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans","volume":"142","author":"Tuijnenburg","year":"2018","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib8","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1016\/j.jaci.2016.10.054","article-title":"Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes","volume":"140","author":"Kaustio","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib9","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1016\/j.jaci.2016.04.043","article-title":"Disturbed canonical nuclear factor of \u03ba light chain signaling in B cells of patients with common variable immunodeficiency","volume":"139","author":"Keller","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib10","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1016\/j.jaci.2016.05.045","article-title":"Early\u00a0and late B-cell developmental impairment in nuclear factor kappa B, subunit 1-mutated common variable immunodeficiency disease","volume":"139","author":"Lougaris","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib11","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1007\/s10875-017-0397-3","article-title":"Anti-pneumococcal vaccine-induced cellular immune responses in post-traumatic splenectomized individuals","volume":"37","author":"Karasartova","year":"2017","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib12","doi-asserted-by":"crossref","first-page":"1981","DOI":"10.1016\/j.jaci.2016.10.014","article-title":"Heterotaxy syndrome with and without spleen: different infection risk and management","volume":"139","author":"Piano Mortari","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib13","doi-asserted-by":"crossref","first-page":"e0180385","DOI":"10.1371\/journal.pone.0180385","article-title":"Autoimmunity and allergy control in adults submitted to complete thymectomy early in infancy","volume":"12","author":"Silva","year":"2017","journal-title":"PLoS One"},{"key":"10.1016\/j.jaci.2018.08.016_bib14","doi-asserted-by":"crossref","first-page":"20","DOI":"10.3389\/fimmu.2017.00020","article-title":"IL-7-induced proliferation of human na\u00efve CD4 T-cells relies on continued thymic activity","volume":"8","author":"Silva","year":"2017","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib15","doi-asserted-by":"crossref","first-page":"1743","DOI":"10.1016\/j.jaci.2017.08.002","article-title":"T-cell receptor sequencing reveals decreased diversity 18 years after early thymectomy","volume":"140","author":"Gudmundsdottir","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib16","doi-asserted-by":"crossref","first-page":"1378","DOI":"10.1016\/j.jaci.2017.02.021","article-title":"Regulated in development and DNA damage responses 1 (REDD1) links stress with IL-1\u03b2-mediated familial Mediterranean fever attack through autophagy-driven neutrophil extracellular traps","volume":"140","author":"Skendros","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib17","doi-asserted-by":"crossref","first-page":"1054","DOI":"10.1016\/j.jaci.2017.01.017","article-title":"Human NACHT, LRR, and PYD domain-containing protein 3 (NLRP3) inflammasome activity is regulated by and potentially targetable through Bruton tyrosine kinase","volume":"140","author":"Liu","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib18","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1016\/j.jaci.2016.05.016","article-title":"DNA demethylation of inflammasome-associated genes is enhanced in patients with cryopyrin-associated periodic syndromes","volume":"139","author":"Vento-Tormo","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib19","doi-asserted-by":"crossref","first-page":"1388","DOI":"10.1016\/j.jaci.2016.12.978","article-title":"Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies","volume":"140","author":"Fischer","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib20","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1093\/cid\/ciw837","article-title":"Chronic granulomatous disease in patients reaching adulthood: a nationwide study in France","volume":"64","author":"Dunogu\u00e9","year":"2017","journal-title":"Clin Infect Dis"},{"key":"10.1016\/j.jaci.2018.08.016_bib21","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1016\/j.jaci.2017.02.029","article-title":"Inflammatory and autoimmune manifestations in X-linked carriers of chronic granulomatous disease in the United Kingdom","volume":"140","author":"Battersby","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib22","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1016\/j.jaci.2017.04.035","article-title":"X-linked carriers of chronic granulomatous disease: illness, lyonization, and stability","volume":"141","author":"Marciano","year":"2018","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib23","doi-asserted-by":"crossref","first-page":"1141","DOI":"10.1056\/NEJMoa1612197","article-title":"Interleukin-12 and interleukin-23 blockade in leukocyte adhesion deficiency type 1","volume":"376","author":"Moutsopoulos","year":"2017","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2018.08.016_bib24","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1016\/j.jaci.2017.08.019","article-title":"A\u00a0novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects","volume":"141","author":"Bogaert","year":"2018","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib25","doi-asserted-by":"crossref","first-page":"7360","DOI":"10.1038\/ncomms8360","article-title":"Bruton's tyrosine kinase is essential for NLRP3 inflammasome activation and contributes to ischaemic brain injury","volume":"6","author":"Ito","year":"2015","journal-title":"Nat Commun"},{"key":"10.1016\/j.jaci.2018.08.016_bib26","doi-asserted-by":"crossref","first-page":"1461","DOI":"10.1016\/j.jaci.2017.04.048","article-title":"Mitochondrial DNA depletion induces innate immune dysfunction rescued by IFN-\u03b3","volume":"140","author":"Widdrington","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib27","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1002\/ajh.24573","article-title":"Chronic granulomatous disease: clinical, functional, molecular, and genetic\u00a0studies. The Israeli experience with 84 patients","volume":"92","author":"Wolach","year":"2017","journal-title":"Am J Hematol"},{"key":"10.1016\/j.jaci.2018.08.016_bib28","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.clim.2018.03.005","article-title":"Long\u00a0term outcome of eight patients with type 1 leukocyte adhesion deficiency (LAD-1): not only infections, but high risk of autoimmune complications","volume":"191","author":"De Rose","year":"2018","journal-title":"Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib29","doi-asserted-by":"crossref","first-page":"1032","DOI":"10.1056\/NEJMoa1512234","article-title":"Loss of B cells in patients with heterozygous mutations in IKAROS","volume":"374","author":"Kuehn","year":"2016","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2018.08.016_bib30","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/j.jaci.2016.09.029","article-title":"Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations","volume":"140","author":"Hoshino","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib31","doi-asserted-by":"crossref","first-page":"1739","DOI":"10.1016\/j.jaci.2017.08.001","article-title":"Abnormalities of T-cell receptor repertoire in CD4+ regulatory and conventional T cells in patients with RAG mutations: implications for autoimmunity","volume":"140","author":"Rowe","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib32","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1007\/s10875-017-0464-9","article-title":"International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity","volume":"38","author":"Picard","year":"2018","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib33","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1007\/s10875-017-0465-8","article-title":"The\u00a02017 IUIS phenotypic classification for primary immunodeficiencies","volume":"38","author":"Bousfiha","year":"2018","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib34","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1016\/j.jaci.2016.05.042","article-title":"Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disorders","volume":"139","author":"Stray-Pedersen","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib35","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/j.ajhg.2017.01.013","article-title":"Mutations in EXTL3 cause neuro-immuno-skeletal dysplasia syndrome","volume":"100","author":"Oud","year":"2017","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaci.2018.08.016_bib36","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1084\/jem.20161525","article-title":"EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay","volume":"214","author":"Volpi","year":"2017","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2018.08.016_bib37","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1038\/jhg.2017.38","article-title":"Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia","volume":"62","author":"Guo","year":"2017","journal-title":"J Hum Genet"},{"key":"10.1016\/j.jaci.2018.08.016_bib38","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1038\/ng.3459","article-title":"Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease","volume":"48","author":"Zhou","year":"2016","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2018.08.016_bib39","doi-asserted-by":"crossref","first-page":"1914","DOI":"10.1016\/j.jaci.2016.09.038","article-title":"Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome","volume":"139","author":"Takagi","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib40","doi-asserted-by":"crossref","first-page":"1485","DOI":"10.1016\/j.jaci.2017.10.039","article-title":"Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders","volume":"141","author":"Kadowaki","year":"2018","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib41","doi-asserted-by":"crossref","first-page":"728","DOI":"10.1136\/annrheumdis-2017-212403","article-title":"A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease","volume":"77","author":"Aeschlimann","year":"2018","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.jaci.2018.08.016_bib42","doi-asserted-by":"crossref","first-page":"1937","DOI":"10.1084\/jem.20160724","article-title":"Human RELA haploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration","volume":"214","author":"Badran","year":"2017","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2018.08.016_bib43","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1016\/j.jaci.2016.09.061","article-title":"Combined immunodeficiency with severe inflammation and allergy caused by ARPC1B deficiency","volume":"140","author":"Kuijpers","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib44","doi-asserted-by":"crossref","first-page":"14816","DOI":"10.1038\/ncomms14816","article-title":"Loss of the Arp2\/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease","volume":"8","author":"Kahr","year":"2017","journal-title":"Nat Commun"},{"key":"10.1016\/j.jaci.2018.08.016_bib45","doi-asserted-by":"crossref","first-page":"4036","DOI":"10.4049\/jimmunol.1700460","article-title":"Disruption of thrombocyte and T lymphocyte development by a mutation in ARPC1B","volume":"199","author":"Somech","year":"2017","journal-title":"J Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib46","doi-asserted-by":"crossref","first-page":"1391","DOI":"10.1016\/j.jaci.2016.09.050","article-title":"Combined immunodeficiency and hypoglycemia associated with mutations in hypoxia upregulated 1","volume":"139","author":"Haapaniemi","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib47","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1038\/ni.3753","article-title":"BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency","volume":"18","author":"Afzali","year":"2017","journal-title":"Nat Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib48","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1084\/jem.20160849","article-title":"Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy\u00a0in humans with inherited CD70 deficiency","volume":"214","author":"Abolhassani","year":"2017","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2018.08.016_bib49","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1084\/jem.20160784","article-title":"Inherited CD70 deficiency in humans reveals a critical role for the CD70-CD27 pathway in immunity to Epstein-Barr virus infection","volume":"214","author":"Izawa","year":"2017","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2018.08.016_bib50","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1056\/NEJMoa1615887","article-title":"CD55 deficiency, early-onset protein-losing enteropathy, and thrombosis","volume":"377","author":"Ozen","year":"2017","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2018.08.016_bib51","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1056\/NEJMc1707173","article-title":"Loss of CD55 in eculizumab-responsive protein-losing enteropathy","volume":"377","author":"Kurolap","year":"2017","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2018.08.016_bib52","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1016\/j.jaci.2016.07.023","article-title":"High prevalence of bronchiectasis in patients with cartilage-hair hypoplasia","volume":"139","author":"Kostjukovits","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib53","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1016\/j.jaci.2017.02.016","article-title":"Analysis of clinical and immunologic phenotype in a large cohort of children and adults with cartilage-hair hypoplasia","volume":"140","author":"Kostjukovits","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib54","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1136\/jmedgenet-2016-104279","article-title":"Decreased telomere length in children with cartilage-hair hypoplasia","volume":"54","author":"Kostjukovits","year":"2017","journal-title":"J Med Genet"},{"key":"10.1016\/j.jaci.2018.08.016_bib55","doi-asserted-by":"crossref","first-page":"1120","DOI":"10.1016\/j.jaci.2016.11.051","article-title":"Defects in lymphocyte telomere\u00a0homeostasis contribute to cellular immune phenotype in patients with cartilage-hair hypoplasia","volume":"140","author":"Aubert","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib56","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1016\/j.jaci.2016.06.021","article-title":"Clinical spectrum and features of activated phosphoinositide 3-kinase \u03b4 syndrome: a large patient cohort study","volume":"139","author":"Coulter","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib57","doi-asserted-by":"crossref","first-page":"1032","DOI":"10.1016\/j.jaci.2016.08.028","article-title":"Abnormal B-cell maturation in the bone marrow of patients with germline mutations in PIK3CD","volume":"139","author":"Dulau Florea","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib58","doi-asserted-by":"crossref","first-page":"543","DOI":"10.3389\/fimmu.2018.00543","article-title":"Disease evolution and response to rapamycin in activated phosphoinositide 3-kinase \u03b4 syndrome: the European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase \u03b4 Syndrome Registry","volume":"9","author":"Maccari","year":"2018","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib59","doi-asserted-by":"crossref","first-page":"2307","DOI":"10.1182\/blood-2017-08-801191","article-title":"Effective \u201cactivated PI3K\u03b4 syndrome\u201d-targeted therapy with the PI3K\u03b4 inhibitor leniolisib","volume":"130","author":"Rao","year":"2017","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2018.08.016_bib60","doi-asserted-by":"crossref","first-page":"1046","DOI":"10.1016\/j.jaci.2016.09.040","article-title":"Hematopoietic stem cell transplant in patients with activated PI3K delta syndrome","volume":"139","author":"Nademi","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib61","doi-asserted-by":"crossref","first-page":"2718","DOI":"10.1182\/blood-2017-05-781849","article-title":"Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study","volume":"130","author":"Heimall","year":"2017","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2018.08.016_bib62","doi-asserted-by":"crossref","first-page":"1694","DOI":"10.1182\/bloodadvances.2017010835","article-title":"Neurologic event-free survival demonstrates a benefit for SCID patients diagnosed by newborn screening","volume":"1","author":"Dvorak","year":"2017","journal-title":"Blood Adv"},{"key":"10.1016\/j.jaci.2018.08.016_bib63","doi-asserted-by":"crossref","first-page":"1282","DOI":"10.1016\/j.jaci.2016.07.039","article-title":"Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation","volume":"139","author":"de la Morena","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib64","doi-asserted-by":"crossref","first-page":"1456","DOI":"10.1182\/blood-2017-03-771600","article-title":"Hematopoietic\u00a0stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG\/NEMO mutations","volume":"130","author":"Miot","year":"2017","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2018.08.016_bib65","doi-asserted-by":"crossref","first-page":"1112","DOI":"10.1016\/j.jaci.2016.10.053","article-title":"Myb-like, SWIRM, and MPN domains 1 (MYSM1) deficiency: Genotoxic stress-associated bone marrow failure and developmental aberrations","volume":"140","author":"Bahrami","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib66","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.1016\/j.jaci.2017.05.007","article-title":"Hematopoietic stem cell transplantation for RelB deficiency","volume":"140","author":"Ovadia","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib67","doi-asserted-by":"crossref","first-page":"1689","DOI":"10.1172\/JCI90367","article-title":"Clinical efficacy of gene-modified stem cells in adenosine deaminase-deficient immunodeficiency","volume":"127","author":"Shaw","year":"2017","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jaci.2018.08.016_bib68","doi-asserted-by":"crossref","first-page":"2624","DOI":"10.1182\/blood-2016-12-756734","article-title":"Cytoreductive conditioning intensity predicts clonal diversity in ADA-SCID retroviral gene therapy patients","volume":"129","author":"Cooper","year":"2017","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2018.08.016_bib69","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1089\/hum.2017.005","article-title":"CRISPR-mediated knockout of Cybb in NSG mice establishes a model of chronic granulomatous disease for human stem-cell gene therapy transplants","volume":"28","author":"Sweeney","year":"2017","journal-title":"Hum Gene Ther"},{"key":"10.1016\/j.jaci.2018.08.016_bib70","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1089\/hum.2016.064","article-title":"Lentivirus mediated correction of Artemis-deficient severe combined immunodeficiency","volume":"28","author":"Punwani","year":"2017","journal-title":"Hum Gene Ther"},{"key":"10.1016\/j.jaci.2018.08.016_bib71","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1056\/NEJMoa1401177","article-title":"Transplantation outcomes for severe combined immunodeficiency, 2000-2009","volume":"371","author":"Pai","year":"2014","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2018.08.016_bib72","doi-asserted-by":"crossref","first-page":"1643","DOI":"10.1016\/j.jaci.2016.12.992","article-title":"Viral reactivations and associated outcomes in the context of immune reconstitution after pediatric hematopoietic cell transplantation","volume":"140","author":"Admiraal","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib73","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1016\/j.ymthe.2016.11.012","article-title":"Targeted repair of CYBB in X-CGD iPSCs requires retention of intronic sequences for expression and functional correction","volume":"25","author":"Sweeney","year":"2017","journal-title":"Mol Ther"},{"key":"10.1016\/j.jaci.2018.08.016_bib74","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.aah3480","article-title":"CRISPR-Cas9 gene repair of hematopoietic stem cells from patients with X-linked chronic granulomatous disease","volume":"9","author":"De Ravin","year":"2017","journal-title":"Sci Transl Med"},{"key":"10.1016\/j.jaci.2018.08.016_bib75","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.aan0820","article-title":"Preclinical modeling highlights the therapeutic potential of hematopoietic stem cell gene editing for correction of SCID-X1","volume":"9","author":"Schiroli","year":"2017","journal-title":"Sci Transl Med"},{"key":"10.1016\/j.jaci.2018.08.016_bib76","doi-asserted-by":"crossref","first-page":"1660","DOI":"10.1016\/j.jaci.2017.03.020","article-title":"Thymus transplantation for complete DiGeorge syndrome: European experience","volume":"140","author":"Davies","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib77","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1016\/j.jaci.2017.02.026","article-title":"Granulocyte transfusions in patients with chronic granulomatous disease and refractory infections: the NIH experience","volume":"140","author":"Marciano","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib78","doi-asserted-by":"crossref","first-page":"1629","DOI":"10.1016\/j.jaci.2016.11.022","article-title":"Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription\u00a01\u00a0(STAT1) gain-of-function mutation","volume":"139","author":"Weinacht","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib79","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1016\/j.jaci.2016.10.051","article-title":"Impaired natural killer cell functions in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations","volume":"140","author":"Tabellini","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib80","doi-asserted-by":"crossref","first-page":"2142","DOI":"10.1016\/j.jaci.2017.08.040","article-title":"Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations","volume":"141","author":"Vargas-Hern\u00e1ndez","year":"2018","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib81","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1007\/s10875-017-0404-8","article-title":"Health-related quality of life in adult patients with common variable immunodeficiency disorders and impact of treatment","volume":"37","author":"Rider","year":"2017","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2018.08.016_bib82","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1007\/s10875-017-0409-3","article-title":"Quality of life, treatment beliefs, and treatment satisfaction in children treated for primary immunodeficiency with SCIg","volume":"37","author":"Sultan","year":"2017","journal-title":"J Clin Immunol"}],"container-title":["Journal of Allergy and Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674918312077?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674918312077?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T09:14:46Z","timestamp":1758791686000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0091674918312077"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,10]]},"references-count":82,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2018,10]]}},"alternative-id":["S0091674918312077"],"URL":"https:\/\/doi.org\/10.1016\/j.jaci.2018.08.016","relation":{},"ISSN":["0091-6749"],"issn-type":[{"type":"print","value":"0091-6749"}],"subject":[],"published":{"date-parts":[[2018,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Advances and highlights in primary immunodeficiencies in 2017","name":"articletitle","label":"Article Title"},{"value":"Journal of Allergy and Clinical Immunology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jaci.2018.08.016","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 American Academy of Allergy, Asthma & Immunology","name":"copyright","label":"Copyright"}]}}