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

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;

Détails

Origin ID

102700;

UMLS CUI

C1863236;

Automatic exact mappings (from CISMeF team)
- partial ADA deficiency [MeSH concept]
Currated CISMeF NLP mapping
- ADA deficiency [MedDRA LLT]
- Adenosine Deaminase Deficiency [NCIt concept]
- Adenosine deaminase [ADA] deficiency [ICD-10 Sub-category]
- Adenosine deaminase deficiency [PASCAL descriptor]
- Adenosine deaminase deficiency [MedDRA LLT]
- Adenosine deaminase deficiency (disorder) [SNOMED CT concept]
- Severe combined immunodeficiency T- B- due to adenosine deaminase deficiency [ICD-11 More detail]
- Severe combined immunodeficiency due to adenosine deaminase deficiency [MeSH concept]
- Severe combined immunodeficiency due to adenosine deaminase deficiency [ORDO Disease]
- adenosine deaminase deficiency [DO Concept]
- adenosine deaminase deficiency [Disease (Nov.)]
- adenosine deaminase deficiency [SNOMED Notion]
- severe combined immunodeficiency due to adenosine deaminase deficiency [MeSH Supplementary Concept]
DO Cross reference
- adenosine deaminase deficiency [DO Concept]
Genes related to phenotype
- Adenosine deaminase [OMIM gene]
HPO term(s)
- Abnormality of pelvic girdle bone morphology [HPO term]
- Absent specific antibody response [HPO term]
- Anterior rib cupping [HPO term]
- Aplasia of the thymus [HPO term]
- Asthma [HPO term]
- Autoimmune hemolytic anemia [HPO term]
- Autoimmune thrombocytopenia [HPO term]
- Autosomal recessive inheritance [HPO term]
- B lymphocytopenia [HPO term]
- B-cell lymphoma [HPO term]
- Chronic diarrhea [HPO term]
- Decreased circulating IgA level [HPO term]
- Decreased circulating IgG2 level [HPO term]
- Decreased circulating total IgM [HPO term]
- Diarrhea [HPO term]
- Diffuse mesangial sclerosis [HPO term]
- Eosinophilia [HPO term]
- Failure to thrive [HPO term]
- Growth arrest lines [HPO term]
- Hepatomegaly [HPO term]
- Idiopathic thrombocytopenia [HPO term]
- Increased circulating IgE level [HPO term]
- Infantile onset [HPO term]
- Lymphopenia [HPO term]
- Platyspondyly [HPO term]
- Pneumonia [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent bacterial, viral, and fungal infections [HPO term]
- Recurrent fungal infections [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent viral infections [HPO term]
- Reduced red cell adenosine deaminase level [HPO term]
- Severe B lymphocytopenia [HPO term]
- Severe combined immunodeficiency [HPO term]
- Sinusitis [HPO term]
- Somatic mosaicism [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Severe combined immunodeficiency due to adenosine deaminase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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