severe combined immunodeficiency due to CARD11 deficiency
Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections.
MONDO:0044201
T+ B+ severe combined immunodeficiency
is_a
IMD11
related
IMD11A
related
immunodeficiency 11
related
immunodeficiency 11A
exact
immunodeficiency type 11
exact