ECB-ART-43995
Indian J Pediatr
2015 Dec 01;8212:1172-4. doi: 10.1007/s12098-015-1779-2.
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Autoimmune Lymphoproliferative Syndrome with Red Cell Aplasia.
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Autoimmune Lymphoproliferative Syndrome (ALPS) is a rare inherited disorder of abnormal lymphocyte apoptosis, leading to chronic lymphoproliferation. It presents as lymphadenopathy, hepatosplenomegaly and autoimmune phenomena. Pure red cell aplasia is characterized by normochromic normocytic anemia, reticulocytopenia, and absence of erythroblasts from a normal bone marrow. Only few lymphoproliferative disorders have been associated with erythroid aplasia. The authors are reporting a case of ALPS associated with red cell aplasia in a 7-y-old girl.
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Genes referenced: LOC115919910
References [+] :
Drappa,
Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity.
1996, Pubmed