{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T20:30:01Z","timestamp":1760646601294},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,2,7]],"date-time":"2017-02-07T00:00:00Z","timestamp":1486425600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2017,5]]},"abstract":"Summary<\/jats:title>The genetic basis of haemophagocytic lymphohistiocytosis (HLH<\/jats:styled-content>) has not been elucidated in 10% of affected patients. In this study, we report four HLH<\/jats:styled-content> episodes in three patients with HAX<\/jats:styled-content>1<\/jats:italic> gene mutations. We screened the mutations associated with congenital neutropenia (CN<\/jats:styled-content>) because the neutropenia persisted following HLH<\/jats:styled-content> treatment. There were homozygous HAX<\/jats:styled-content>1<\/jats:italic> mutations detected in all patients. This is the first case series of patients with CN<\/jats:styled-content> caused by HAX<\/jats:styled-content>1<\/jats:italic> mutation who presented with HLH<\/jats:styled-content>. We hypothesize that severe neutropenia persists after an HLH<\/jats:styled-content> episode in children without HLH<\/jats:styled-content> mutations (especially infants) because these patients have CN<\/jats:styled-content> caused by HAX<\/jats:styled-content>1<\/jats:italic> mutations.<\/jats:p>","DOI":"10.1111\/bjh.14574","type":"journal-article","created":{"date-parts":[[2017,2,7]],"date-time":"2017-02-07T10:36:45Z","timestamp":1486463805000},"page":"597-600","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["HAX<\/scp>1<\/i> mutation positive children presenting with haemophagocytic lymphohistiocytosis"],"prefix":"10.1111","volume":"177","author":[{"given":"Tuba H.","family":"Karap\u0131nar","sequence":"first","affiliation":[{"name":"Department of Paediatric Haematology\u2010Oncology Dr. Beh\u00e7et Uz Children Research and Training Hospital Izmir 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