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combined immunodeficiency due to LRBA deficiency

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description An autosomal recessive immunologic disorder associated with defective B-cell differentiation and decreased or absent antibody production. Affected individuals have early-childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease.
Mondo Term and Equivalent IDs
MONDO:0013863:  combined immunodeficiency due to LRBA deficiency
Orphanet:445018: 
UMLS:C3553512: