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autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Mondo Description A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V.
Uniprot Description An autosomal dominant primary immunodeficiency characterized by severe autoimmunity, infiltration of non-lymphoid organs, such as the intestine, lungs and brain, by hyperactive T cells and B cells, autoimmune cytopenias, and hypogammaglobulinemia in early childhood.
Mondo Term and Equivalent IDs
MONDO:0014493:  autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
GARD:0012316: 
NCIT:C126341: 
Orphanet:436159: 
UMLS:C4015214: