Preferred Label : Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative,
nk cell-negative, due to adenosine deaminase deficiency;
CISMeF acronym : ADA-SCID;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Scid due to ada deficiency; Scid due to ada deficiency, early-onset; ADA-SCID;
Included titles and symbols : Scid due to ada deficiency, late-onset; Scid due to ada deficiency, delayed onset; Adenosine deaminase deficiency, partial; Partial ada deficiency;
Inheritance : Autosomal recessive; Somatic mosaicism;
Molecular basis : Caused by mutation in the adenosine deaminase gene (ADA, 102700.0001);
Neoplasia : B-cell lymphoma;
Laboratory abnormalities : Reduced erythrocyte adenosine deaminase activity; Increased IgE levels; CD4 /CD8 ratio often reversed; Low or absent IgA levels; Low or absent IgM levels; Absent IgG2 subclass; Elevated serum levels of adenosine; Elevated serum levels of 2-prime deoxyadenosine;
Prefixed ID : #102700;
Origin ID : 102700;
UMLS CUI : C1863236;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
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ORDO concept(s)
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