Recombinase Activating Gene 1 Deficiencies Without Omenn Syndrome May Also Present With Eosinophilia and Bone Marrow Fibrosis
نویسندگان
چکیده
منابع مشابه
Atypical Omenn Syndrome Due to RAG2 Gene Mutation, a Case Report
Severe Combined Immunodeficiency (SCID), characterized by a profound decrease in both the number and function of T cells, is related to more than 20 different mutations. Recombination-activating gene (RAG) 1 and 2 seem to be two of the most common forms presenting with various manifestations, including typical SCID, Omenn syndrome (OS), atypical SCID (AS), or delayed onset combined immunodefici...
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Bone Marrow Edema Syndrome (BMES) is an uncommon, self-limited and with unknown etiology characterized by severe pain with no history of trauma. Due to low prevalence of BMES and its non-specific signs, correct diagnosis is often delayed intensifying bone pain and impairing patients’ function and quality of life. In this study we treated a patient with bone marrow edema syndrome in right a...
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By retrospectively analyzing 288 patients with de novo myelodysplastic syndrome (MDS), we sought to determine the prevalence and clinical characteristics of bone marrow eosinophilia and basophilia that were detected at presentation. Bone marrow eosinophilia and basophilia were defined as a differential count of each cell type exceeding 5.0% and 1.0%, respectively. Of 288 patients with MDS, 36 (...
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The prognosis for myelodysplastic syndrome with bone marrow fibrosis (MDS-F) is worse than the prognosis of MDS without fibrosis. Hematopoietic stem cell transplantation (HSCT) is the only curative therapy; however, the indications and the procedures involved in HSCT remain unclear. We herein describe a 69-year-old Japanese man with MDS-F who received haploidentical HSCT and post-transplantatio...
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Background: Mutation in NPM1 gene has been reported to be the most common genetic mutation in de novo acute myeloid leukemia (AML). AML with NPM1 gene mutation usually presents with higher initial leukocyte and blast cell counts and negative CD34 expression. We aimed to investigate the difference of initial leukocyte counts, bone marrow blast cell counts and expression of CD34 among patients wi...
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ژورنال
عنوان ژورنال: Journal of Clinical Medicine Research
سال: 2016
ISSN: 1918-3003,1918-3011
DOI: 10.14740/jocmr2316w