" /> Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency - CISMeF





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;

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03/05/2025


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