A rare case of syndromic severe congenital neutropenia: jagn1 mutation
نویسندگان
چکیده
منابع مشابه
Severe congenital neutropenia: case report
Introduction Neutropenia is defined in the literature as absolute neutrophil counts in peripheral blood of less than 1500 cells/mm3 in more than one year old and less than 2000cells/mm3 in children in the first year old of life. Neutropenia is classified as mild, moderate or severe, and may be congenital or acquired, persistent or not. Kostmann syndrome is a severe neutropenia, the incidence va...
متن کاملHAX1 mutation in an infant with severe congenital neutropenia.
Severe congenital neutropenia (SCN) is a rare primary myelopoiesis disorder, characterized by persistent severe neutropenia and early-onset bacterial infections. Herein, we describe an 11-month-old male who was referred with recurrent cutaneous infections and chronic diarrhea. Serial complete blood counts indicated persistent neutropenia. Bone marrow aspiration of the patient demonstrated matur...
متن کاملGranulopoiesis in severe congenital neutropenia.
The pathogenesis of the granulopoietic failure in three children with severe congenital neutropenia was studied. Mature neutrophils were absent from both peripheral blood and bone marrow. Assay of bone marrow granulocyte colony-forming cells (CFU-C) in a methylcellulose tissue culture system using colony-stimulating activity (CSA) from peripheral blood leukocytes demonstrated normal or increase...
متن کاملCongenital Becker’s nevus: report of a rare case
Introduction: Beckers’s nevus is a cutaneous hamartoma which usually appears as a circumscribed hyperpigmentation with hypertrichosis. It usually presents unilaterally and the usual site is shoulder and scapula. It is rarely congenital and it is usually noticed first during adolescence. Case Report: Herein, we report a congenital bilateral large Becker’s nevus with positive familial history ...
متن کاملSevere congenital neutropenia: new lane for ELANE.
In this issue of Blood, Tidwell et al1 demonstrate that mutations in the start codon (protein synthesis is initiated at the codon ATG) of neutrophil elastase (ELANE) result in the production of N-terminally truncated elastase, which mislocates to the nucleus and results in severe congenital neutropenia (SCN).
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ژورنال
عنوان ژورنال: The Turkish Journal of Pediatrics
سال: 2020
ISSN: 0041-4301
DOI: 10.24953/turkjped.2020.02.022