نتایج جستجو برای: linked lymphoproliferative syndrome
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The genetic defect in X-linked lymphoproliferative syndrome (XLP) is the Src homology 2 domain-containing protein SAP. SAP constitutively associates with the cell surface molecule, signaling lymphocytic activation molecule (SLAM), and competes with SH2-domain containing protein tyrosine phosphatase-2 (SHP-2) for recruitment to SLAM. SLAM exhibits homology with the mouse cell surface receptor 2B...
Autoimmune lymphoproliferative syndrome (ALPS) is a rare inherited disorder of apoptosis, most commonly due to mutations in the FAS (TNFRSF6) gene. It presents with chronic lymphadenopathy, splenomegaly, and symptomatic multilineage cytopenias in an otherwise healthy child. Unfortunately, these clinical findings are also noted in other childhood lymphoproliferative conditions, such as leukemia,...
SH2D1A gene defects are the cause of X-linked lymphoproliferative disorder (XLP-1), a rare condition characterized by severe immune dysregulation. We present a patient lacking the typical symptoms of XLP-1, but experiencing a severe unusual skin condition encompassing features of dermatosclerosis and vesiculobullous skin disease. A maternal cousin of the patient was diagnosed with XLP-1 and fou...
Goltz syndrome or focal dermal hypoplasia is a rare syndrome with mesoectodermal hypoplasia. This syndrome is an X-linked dominant disorder with involvement of the cutaneous, ocular, dental and skeletal systems. The most significant feature of this disease is connective tissue dysplasia. Here, we report a 30-year old woman who presented with congenital unilateral linear atrophic areas on her tr...
schimke immuno-osseous dysplasia is a rare autosomal recessive multisystem disorder characterized by steroid-resistant nephrotic syndrome, immunodeficiency, and spondyloepiphy-seal dysplasia. mutations in swi/snf2 related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (smarcal1) gene are responsible for the disease. the present report describes, for the first tim...
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