Wolman disease in patients with familial hemophagocytic lymphohistiocytosis (FHL) negative mutations
نویسندگان
چکیده
منابع مشابه
Wolman disease in patients with familial hemophagocytic lymphohistiocytosis (FHL) negative mutations
Wolman disease; Familial hemophagocytic lymphohistiocytosis; Hepatomegaly; Splenomegaly; Fever Abstract Background: Familial hemophagocytic lymphohistiocytosis is a rare autosomal recessive disease that is usually evident in the first few months or years of life. Major signs and symptoms include hepatomegaly, splenomegaly, anemia, leucopenia or thrombocytopenias which resemble many inborn error...
متن کاملSecondary Hemophagocytic Lymphohistiocytosis in an Infant with Wolman Disease
©Copyright 2017 by Turkish Society of Hematology Turkish Journal of Hematology, Published by Galenos Publishing House A 2-month-old girl presented with vomiting, fever, failure to thrive, and diarrhea. She was born to consanguineous parents. She was irritable and pale and she had hepatosplenomegaly (Figure 1). Her weight and height were below the 3rd percentile. Initial hemoglobin count was 7.6...
متن کاملFirst characterization of platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 3 (FHL-3).
Recent major improvement in long-term survival of younger patients with multiple myeloma. First characterization of platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 3 (FHL-3) Familial hemophagocytic lymphohistiocytosis (FHL), a rare auto-somal recessive disorder of lymphocyte cytotoxicity, is caused by mutations in genes encoding perforin (FHL-2) or pr...
متن کاملPlatelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL-5).
similar to that reported by Falini, and was associated with a higher proportion of normal karyotype (93% vs 60%; P .001), lower leukocyte count at diagnosis (32 109/L vs 69 109/L; P .01), and lower bone marrow infiltration (51% vs 72% blast cells, P .001). Interestingly, the frequency of NPM1 and FLT3 internal tandem duplication (FLT3-ITD) mutations did not differ between patients with and with...
متن کاملLinkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.
Familial hemophagocytic lymphohistiocytosis (FHL) is a rare autosomal recessive disorder characterized by hyperactive phagocytes and defects in natural killer cell function. It has been shown previously that mutations in the perforin 1 gene (PRF1) and in UNC13D are associated with FHL2 and FHL3, respectively, indicating genetic heterogeneity. We performed genome-wide homozygosity mapping in a l...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Egyptian Journal of Medical Human Genetics
سال: 2016
ISSN: 1110-8630
DOI: 10.1016/j.ejmhg.2015.08.005