Combined immunodeficiency due to LRBA deficiency


Engelsk navn: Combined immunodeficiency due to LRBA deficiency
Engelske synonym: CID due to LRBA deficiency


A rare, genetic, primary immunodeficiency characterized by early onset of recurrent respiratory infections and variable combination of autoimmune disorders, including hemolytic anemia, thrombocytopenic purpura, lymphoproliferative disease, inflammatory bowel disease, colitis, diabetes, arthritis, and dermatitis. Failure to thrive, hepatosplenomegaly and endocrine abnormalities have also been associated. Variable immunologic findings include deficiency of CD4+ T regulatory cells, decreased B-cells, and hypogammaglobulinemia.



Informasjon

Senter for sjeldne diagnoser ved OUS har kunnskap om diagnosen.

ORPHA: 445018
Klassifiseringsnivå: Disorder
ICD-10: D81.8



Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)