Gray platelet syndrome mimicking atypical autoimmune lymphoproliferative syndrome: the key is in the blood smear
نویسندگان
چکیده
منابع مشابه
Autoimmune Lymphoproliferative Syndrome Misdiagnosed as Hemophagocytic Lymphohistiocytosis A Case Report
Autoimmune lymphoproliferative Syndrome (ALPS) is a rare inherited disorder of apoptosis. It usually presents with chronic lymphadenopathy, splenomegaly, and symptomatic cytopenia in a child. Herein, we report a 14-year-old boy with symptoms misdiagnosed as hemophagocytic lymphohistiocytosis who was treated before ALPS was diagnosed for the patient. This case should alert pediatricians to consi...
متن کاملAutoimmune lymphoproliferative syndrome.
PURPOSE OF REVIEW The autoimmune lymphoproliferative syndrome is a recently identified human disorder of lymphocyte apoptosis that has provided important information about Fas-mediated lymphocyte apoptosis. In this review we summarize current information regarding the diagnosis, management and underlying molecular basis of the syndrome. RECENT FINDINGS The genetic basis of autoimmune lymphopr...
متن کاملAutoimmune Lymphoproliferative Syndrome
1»Titu Maiorescu« University, Faculty of Medicine, Department of Physiology, Center for Rheumatic Diseases, Bucharest, Romania 2»Carol Davila« University of Medicine and Pharmacy, Clinic of Neurology, Colentina Clinical Hospital, Bucharest, Romania 3University of Medicine and Pharmacy, Department of Immunology, Craiova, Romania 4»Carol Davila« University of Medicine and Pharmacy, Clinical Hospi...
متن کاملGray platelet syndrome.
The name GPS comes from the gray appearance of the platelets in the peripheral blood smear as a result of the absence of -granules. The genetic basis of GPS was recently demonstrated to be due to mutations in NBEAL2. The NBEAL2 gene encodes for the neurobeachin-like 2 (NBEAL2) protein, which is a member of the family of BEACH (BEige And Chediak-Higashi) domain-containing proteins on chromosome ...
متن کاملRapamycin improves lymphoproliferative disease in murine autoimmune lymphoproliferative syndrome (ALPS).
Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of abnormal lymphocyte survival caused by defective Fas-mediated apoptosis, leading to lymphadenopathy, hepatosplenomegaly, and an increased number of double-negative T cells (DNTs). Treatment options for patients with ALPS are limited. Rapamycin has been shown to induce apoptosis in normal and malignant lymphocytes. Since ALPS is cau...
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ژورنال
عنوان ژورنال: Blood
سال: 2018
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood-2018-03-841940