{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,4]],"date-time":"2025-10-04T01:33:31Z","timestamp":1759541611184},"reference-count":28,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2010,2,18]],"date-time":"2010-02-18T00:00:00Z","timestamp":1266451200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Pediatr"],"published-print":{"date-parts":[[2010,6]]},"DOI":"10.1007\/s00431-010-1149-z","type":"journal-article","created":{"date-parts":[[2010,2,17]],"date-time":"2010-02-17T09:47:54Z","timestamp":1266400074000},"page":"657-660","source":"Crossref","is-referenced-by-count":7,"title":["Eponym"],"prefix":"10.1007","volume":"169","author":[{"given":"Caner","family":"Aytekin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuela","family":"Germeshausen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nilden","family":"Tuygun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gonul","family":"Tanir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Figen","family":"Dogu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aydan","family":"Ikinciogullari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2010,2,18]]},"reference":[{"key":"1149_CR1","doi-asserted-by":"crossref","first-page":"2182","DOI":"10.1182\/blood-2006-01-010249","volume":"108","author":"PJ Ancliff","year":"2006","unstructured":"Ancliff PJ, Blundell MP, Cory GO et al (2006) Two novel activating mutations in the Wiskott\u2013Aldrich syndrome protein result in congenital neutropenia. Blood 108:2182\u20132189","journal-title":"Blood"},{"key":"1149_CR2","doi-asserted-by":"crossref","first-page":"1574","DOI":"10.1056\/NEJM198906153202402","volume":"320","author":"MA Bonilla","year":"1989","unstructured":"Bonilla MA, Gillio AP, Ruggeiro M et al (1989) Effects of recombinant human granulocyte colony-stimulating factor on neutropenia in patients with congenital agranulocytosis. N Engl J Med 320:1574\u20131580","journal-title":"N Engl J Med"},{"key":"1149_CR3","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1002\/pbc.21282","volume":"49","author":"LA Boxer","year":"2007","unstructured":"Boxer LA, Newburger PE (2007) A molecular classification of congenital neutropenia syndromes. Pediatr Blood Cancer 49:609\u2013614","journal-title":"Pediatr Blood Cancer"},{"key":"1149_CR4","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1056\/NEJMoa0805051","volume":"360","author":"K Boztug","year":"2009","unstructured":"Boztug K, Appaswamy G, Ashikov A et al (2009) A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med 360:32\u201343","journal-title":"N Engl J Med"},{"key":"1149_CR5","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/j.iac.2008.01.007","volume":"28","author":"K Boztug","year":"2008","unstructured":"Boztug K, Welte K, Zeidler C, Klein C (2008) Congenital neutropenia syndromes. Immunol Allergy Clin North Am 28:259\u2013275","journal-title":"Immunol Allergy Clin North Am"},{"key":"1149_CR6","doi-asserted-by":"crossref","first-page":"1526","DOI":"10.1080\/08035250601087607","volume":"95","author":"G Carlsson","year":"2006","unstructured":"Carlsson G, Andersson M, P\u00fctsep K et al (2006) Kostmann syndrome or infantile genetic agranulocytosis, part one: celebrating 50\u00a0years of clinical and basic research on severe congenital neutropenia. Acta Paediatr 95:1526\u20131532","journal-title":"Acta Paediatr"},{"key":"1149_CR7","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1080\/080352501750315663","volume":"90","author":"G Carlsson","year":"2001","unstructured":"Carlsson G, Fasth A (2001) Infantile genetic agranulocytosis, morbus Kostmann: presentation of six cases from the original \u201cKostmann family\u201d and a review. Acta Paediatr 90:757\u2013764","journal-title":"Acta Paediatr"},{"key":"1149_CR8","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1111\/j.1365-2796.2008.01982.x","volume":"264","author":"G Carlsson","year":"2008","unstructured":"Carlsson G, van't Hooft I, Melin M et al (2008) Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations. J Intern Med 264:388\u2013400","journal-title":"J Intern Med"},{"key":"1149_CR9","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1902\/jop.2006.050191","volume":"77","author":"G Carlsson","year":"2006","unstructured":"Carlsson G, Wahlin YB, Johansson A et al (2006) Periodontal disease in patients from the original Kostmann family with severe congenital neutropenia. J Periodontol 77:744\u2013751","journal-title":"J Periodontol"},{"key":"1149_CR10","doi-asserted-by":"crossref","first-page":"2317","DOI":"10.1182\/blood.V96.7.2317","volume":"96","author":"DC Dale","year":"2000","unstructured":"Dale DC, Person RE, Bolyard AA (2000) Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood 96:2317\u20132322","journal-title":"Blood"},{"key":"1149_CR11","doi-asserted-by":"crossref","first-page":"4716","DOI":"10.1182\/blood-2006-09-045427","volume":"109","author":"M Donini","year":"2007","unstructured":"Donini M, Fontana S, Savoldi G et al (2007) G-CSF treatment of severe congenital neutropenia reverses neutropenia but does not correct the underlying functional deficiency of the neutrophil in defending against microorganisms. Blood 109:4716\u20134723","journal-title":"Blood"},{"key":"1149_CR12","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1038\/sj.bmt.1704718","volume":"35","author":"C Ferry","year":"2005","unstructured":"Ferry C, Ouach\u00e9e M, Leblanc T et al (2005) Hematopoietic stem cell transplantation in severe congenital neutropenia: experience of the French SCN register. Bone Marrow Transplant 35:45\u201350","journal-title":"Bone Marrow Transplant"},{"key":"1149_CR13","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1182\/blood-2006-02-004275","volume":"109","author":"M Germeshausen","year":"2007","unstructured":"Germeshausen M, Ballmaier M, Welte K (2007) Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: results of a long-term survey. Blood 109:93\u201399","journal-title":"Blood"},{"key":"1149_CR14","doi-asserted-by":"crossref","first-page":"4954","DOI":"10.1182\/blood-2007-11-120667","volume":"111","author":"M Germeshausen","year":"2008","unstructured":"Germeshausen M, Grudzien M, Zeidler C et al (2008) Novel HAX1 mutations in patients with severe congenital neutropenia reveals isoform-dependent genotype\u2013phenotype associations. Blood 111:4954\u20134957","journal-title":"Blood"},{"key":"1149_CR15","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1097\/MOH.0b013e328303b9f6","volume":"15","author":"M Germeshausen","year":"2008","unstructured":"Germeshausen M, Skokowa J, Ballmaier M et al (2008) G-CSF receptor mutations in patients with congenital neutropenia. Curr Opin Hematol 15:332\u2013337","journal-title":"Curr Opin Hematol"},{"key":"1149_CR16","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1038\/ng1940","volume":"39","author":"C Klein","year":"2007","unstructured":"Klein C, Grudzien M, Appaswamy G et al (2007) HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet 39:86\u201392","journal-title":"Nat Genet"},{"key":"1149_CR17","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1007\/s12016-009-8130-5","volume":"38","author":"C Klein","year":"2010","unstructured":"Klein C, Welte K (2010) Genetic insights into congenital neutropenia. Clin Rev Allergy Immunol 38:68\u201374","journal-title":"Clin Rev Allergy Immunol"},{"key":"1149_CR18","first-page":"1","volume":"105","author":"R Kostmann","year":"1956","unstructured":"Kostmann R (1956) Infantile genetic agranulocytosis (agranulocytosis infantilis herediteria). A new recessive lethal disease in man. Acta Paediatrica (suppl) 105:1\u201378","journal-title":"Acta Paediatrica (suppl.)"},{"key":"1149_CR19","doi-asserted-by":"crossref","first-page":"3044","DOI":"10.1182\/blood-2008-11-188755","volume":"114","author":"J Skokowa","year":"2009","unstructured":"Skokowa J, Fobiwe JP, Dan L et al (2009) Neutrophil elastase is severely downregulated in severe congenital neutropenia (CN) independent of ELA2 or HAX1 mutations but dependent on LEF-1. Blood 114:3044\u20133051","journal-title":"Blood"},{"key":"1149_CR20","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1097\/00062752-200701000-00006","volume":"14","author":"J Skokowa","year":"2007","unstructured":"Skokowa J, Germeshausen M, Zeidler C, Welte K (2007) Severe congenital neutropenia: inheritance and pathophysiology. Curr Opin Hematol 14:22\u201328","journal-title":"Curr Opin Hematol"},{"key":"1149_CR21","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1111\/j.1749-6632.2009.04963.x","volume":"1176","author":"J Skokowa","year":"2009","unstructured":"Skokowa J, Welte K (2009) Dysregulation of myeloid-specific transcription factors in congenital neutropenia. Ann N Y Acad Sci 1176:94\u2013100","journal-title":"Ann N Y Acad Sci"},{"key":"1149_CR22","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1046\/j.1365-2141.1999.01720.x","volume":"107","author":"OP Smith","year":"1999","unstructured":"Smith OP, Cox J (1999) Historical review. Inherited bone marrow failure: the men behind the empty space. Br J Haematol 107:242\u2013246","journal-title":"Br J Haematol"},{"key":"1149_CR23","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/j.hoc.2009.01.013","volume":"23","author":"K Welte","year":"2009","unstructured":"Welte K, Zeidler C (2009) Severe congenital neutropenia. Hematol Oncol Clin North Am 23:307\u2013320","journal-title":"Hematol Oncol Clin North Am"},{"key":"1149_CR24","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1053\/j.seminhematol.2006.04.004","volume":"43","author":"K Welte","year":"2006","unstructured":"Welte K, Zeidler C, Dale DC (2006) Severe congenital neutropenia. Semin Hematol 43:189\u2013195","journal-title":"Semin Hematol"},{"key":"1149_CR25","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1016\/S0022-3476(97)70068-4","volume":"131","author":"E Yakisan","year":"1997","unstructured":"Yakisan E, Schirg E, Zeidler C et al (1997) High incidence of significant bone loss in patients with severe congenital neutropenia (Kostmann\u2019s syndrome). J Pediatr 131:592\u2013597","journal-title":"J Pediatr"},{"key":"1149_CR26","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1016\/j.immuni.2007.12.020","volume":"28","author":"A Zarebski","year":"2008","unstructured":"Zarebski A, Velu CS, Baktula AM et al (2008) Mutations in growth factor independent-1 associated with human neutropenia block murine granulopoiesis through colony stimulating factor-1. Immunity 28:370\u2013380","journal-title":"Immunity"},{"key":"1149_CR27","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1111\/j.1365-2141.2008.07425.x","volume":"144","author":"C Zeidler","year":"2009","unstructured":"Zeidler C, Germeshausen M, Klein C, Welte K (2009) Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia. Br J Haematol 144:459\u2013467","journal-title":"Br J Haematol"},{"key":"1149_CR28","first-page":"1195","volume":"95","author":"C Zeidler","year":"2000","unstructured":"Zeidler C, Welte K, Barak Y et al (2000) Stem cell transplantation in patients with severe CN without evidence of leukemic transformation. Blood 95:1195\u20131198","journal-title":"Blood"}],"container-title":["European Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-010-1149-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00431-010-1149-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-010-1149-z","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,28]],"date-time":"2020-05-28T01:02:36Z","timestamp":1590627756000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00431-010-1149-z"}},"subtitle":["Kostmann disease"],"short-title":[],"issued":{"date-parts":[[2010,2,18]]},"references-count":28,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2010,6]]}},"alternative-id":["1149"],"URL":"https:\/\/doi.org\/10.1007\/s00431-010-1149-z","relation":{},"ISSN":["0340-6199","1432-1076"],"issn-type":[{"value":"0340-6199","type":"print"},{"value":"1432-1076","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,2,18]]}}}