{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,3]],"date-time":"2026-04-03T21:58:38Z","timestamp":1775253518467,"version":"3.50.1"},"reference-count":38,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,5,16]],"date-time":"2023-05-16T00:00:00Z","timestamp":1684195200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p><jats:italic>HAX1<\/jats:italic>\u2010related congenital neutropenia (<jats:italic>HAX1<\/jats:italic>\u2010CN) is a rare autosomal recessive disorder caused by pathogenic variants in the <jats:italic>HAX1<\/jats:italic> gene. <jats:italic>HAX1<\/jats:italic>\u2010CN patients suffer from bone marrow failure as assessed by a maturation arrest of the myelopoiesis revealing persistent severe neutropenia from birth. The disorder is strongly associated with severe bacterial infections and a high risk of developing myelodysplastic syndrome or acute myeloid leukaemia. This study aimed to describe the long\u2010term course of the disease, the treatment, outcome and quality of life in patients with homozygous <jats:italic>HAX1<\/jats:italic> mutations reported to the European branch of the Severe Chronic Neutropenia International Registry. We have analysed a total of 72 patients with different types of homozygous (<jats:italic>n<\/jats:italic>\u2009=\u200968), compound heterozygous (<jats:italic>n<\/jats:italic>\u2009=\u20093), and digenic (<jats:italic>n<\/jats:italic>\u2009=\u20091) <jats:italic>HAX1<\/jats:italic> mutations. The cohort includes 56 paediatric (&lt;18\u2009years) and 16 adult patients. All patients were initially treated with G\u2010CSF with a sufficient increase in absolute neutrophil counts. Twelve patients required haematopoietic stem cell transplantation for leukaemia (<jats:italic>n<\/jats:italic>\u2009=\u20098) and non\u2010leukaemic indications (<jats:italic>n<\/jats:italic>\u2009=\u20094). While previous genotype\u2013phenotype reports documented a striking correlation between two main transcript variants and clinical neurological phenotypes, our current analysis reveals novel mutation subtypes and clinical overlaps between all genotypes including severe secondary manifestations, e.g., high incidence of secondary ovarian insufficiency.<\/jats:p>","DOI":"10.1111\/bjh.18840","type":"journal-article","created":{"date-parts":[[2023,5,17]],"date-time":"2023-05-17T02:00:30Z","timestamp":1684288830000},"page":"393-411","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["<scp><i>HAX1<\/i><\/scp>\u2010related congenital neutropenia: Long\u2010term observation in paediatric and adult patients enrolled in the European branch of the Severe Chronic Neutropenia International Registry (<scp>SCNIR<\/scp>)"],"prefix":"10.1111","volume":"202","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7298-5425","authenticated-orcid":false,"given":"Denys","family":"Pogozhykh","sequence":"first","affiliation":[{"name":"Clinic for Hematology, Hemostaseology, Oncology and Stem Cell Transplantation Hannover Medical School  Hannover Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deniz","family":"Yilmaz\u00a0Karapinar","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology Children's Hospital  Izmir Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maksim","family":"Klimiankou","sequence":"additional","affiliation":[{"name":"Department of Hematology, Oncology, Clinical Immunology, and Rheumatology University Hospital T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natali","family":"Gerschmann","sequence":"additional","affiliation":[{"name":"Clinic for Hematology, Hemostaseology, Oncology and Stem Cell Transplantation Hannover Medical School  Hannover Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georg","family":"Ebetsberger\u2010Dachs","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine Kepler University Hospital  Linz Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Palmblad","sequence":"additional","affiliation":[{"name":"Departments of Medicine and Hematology The Karolinska Institutet, Karolinska University Hospital  Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00f6ran","family":"Carlsson","sequence":"additional","affiliation":[{"name":"Childhood Cancer Research Unit Karolinska Institutet, Karolinska University Hospital  Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tania","family":"Masmas","sequence":"additional","affiliation":[{"name":"Pediatric Hematopoietic Stem Cell Transplantation and Immunodeficiency, The Child and Adolescent Clinic Copenhagen University Hospital  Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sally","family":"Kinsey","sequence":"additional","affiliation":[{"name":"Leeds Institute for Medical Research, University of Leeds  Leeds UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marije","family":"Bartels","sequence":"additional","affiliation":[{"name":"Department of Paediatric Haematology University Medical Centre Utrecht  Utrecht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabine","family":"Mellor\u2010Heineke","sequence":"additional","affiliation":[{"name":"Department of Hematology, Oncology, Clinical Immunology, and Rheumatology University Hospital 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