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autoimmune lymphoproliferative syndrome type 2B

Disease Summary
Associated Targets (4)
Tchem

2

Tbio

2


GARD Rare
Mondo Description Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.
Uniprot Description Disorder resembling autoimmune lymphoproliferative syndrome (ALPS). It is characterized by lymphadenopathy, splenomegaly, and defective CD95-induced apoptosis of peripheral blood lymphocytes (PBLs). It leads to defects in activation of T-lymphocytes, B-lymphocytes, and natural killer cells leading to immunodeficiency characterized by recurrent sinopulmonary and herpes simplex virus infections and poor responses to immunization.
Mondo Term and Equivalent IDs
MONDO:0011804:  autoimmune lymphoproliferative syndrome type 2B
GARD:0009796: 
Orphanet:275517: 
SCTID:722290008: