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IL21-related infantile inflammatory bowel disease

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low.
Mondo Term and Equivalent IDs
MONDO:0014338:  IL21-related infantile inflammatory bowel disease
Orphanet:477661: 
UMLS:C4014258: