severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

Findings

No curated finding names severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal recessive inheritance

Onset and course

Infantile onset · Neonatal onset

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• familial severe combined immunodeficiency
• inborn disorder of purine metabolism
• T-B- severe combined immunodeficiency

Resolves to: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

Also called

ADA deficiencyADA-SCIDadenosine deaminase deficiencyadenosine deaminase deficiency, partial, Autosomal recessive, Somatic mosaicismadenosine deaminase deficient severe combined immunodeficiencySCID due to ADA deficiencySCID due to ADA deficiency, early-onsetSCID due to adenosine deaminase deficiencysevere combined immunodeficiency due to ADA deficiency, Autosomal recessive, Somatic mosaicism