severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
A form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.
MONDO:0017855
T-B- severe combined immunodeficiency
is_a
MONDO:0019236
inborn disorder of purine metabolism
is_a
MONDO:0031520
familial severe combined immunodeficiency
is_a
ADA deficiency
exact
ADA-SCID
exact
SCID due to ADA deficiency
exact
SCID due to ADA deficiency, early-onset
exact
SCID due to adenosine deaminase deficiency
exact
adenosine deaminase deficiency
exact
adenosine deaminase deficiency, partial, Autosomal recessive, Somatic mosaicism
exact
adenosine deaminase deficient severe combined immunodeficiency
exact
severe combined immunodeficiency due to ADA deficiency
related
severe combined immunodeficiency due to ADA deficiency, Autosomal recessive, Somatic mosaicism
exact
severe combined immunodeficiency due to adenosine deaminase deficiency
related
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
exact
SPBC1198.02