immunodeficiency 18
Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18.
MONDO:0015703
T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
is_a
MONDO:0031520
familial severe combined immunodeficiency
is_a
CD3-Epsilon deficiency
exact
IMD18
exact
immunodeficiency 18
exact
immunodeficiency 18, SCID variant
exact
immunodeficiency 18, Severe combined immunodeficiency variant
exact
immunodeficiency type 18
exact