Author:
Poyer Fiona,Jimenez Heredia Raúl,Novak Wolfgang,Zeitlhofer Petra,Nebral Karin,Dworzak Michael N.,Haas Oskar A.,Boztug Kaan,Kager Leo
Abstract
We report the case of a male Pakistani patient with a pathogenic homozygous loss of function variant in the non-homologous end-joining factor 1 (NHEJ1) gene. The growth retarded and microcephalic boy with clinodactyly of both hands and hyperpigmentation of the skin suffered from recurrent respiratory infections. He was five and a half years old when he came to our attention with refractory cytopenia and monosomy 7. Hematopoietic stem cell transplantation was considered but not feasible because there was no suitable donor available. Monosomy 7 was not detected anymore in subsequent bone marrow biopsies that were repeated in yearly intervals. Instead, seven and a half years later, a novel clone with a del(20q) appeared and steadily increased thereafter. In parallel, the patient’s blood count, which had remained stable for over 20 years without necessitating any specific therapeutic interventions, improved gradually and the erythropoiesis-associated dysplasia resolved.
Subject
Immunology,Immunology and Allergy
Cited by
1 articles.
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1. Pediatric myelodysplastic syndrome;Seminars in Diagnostic Pathology;2023-05