Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative

Preferred Label : Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Scid, t cell-negative, b cell-positive, nk cell-negative;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the Janus kinase 3 gene (JAK3, 600173.0001);

Laboratory abnormalities : Panhypogammaglobulinemia;

Prefixed ID : #600802;

Details

Origin ID

600802;

UMLS CUI

C1833275;

Automatic exact mappings (from CISMeF team)
- T-B+ severe combined immunodeficiency due to JAK3 deficiency [ORDO Disease]
- severe combined immunodeficiency, autosomal recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive [MeSH concept]
- severe combined immunodeficiency, autosomal recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive [MeSH Supplementary Concept]
- severe combined immunodeficiency, autosomal recessive, T cell negative, B cell positive, NK cell positive [MeSH concept]
- severe combined immunodeficiency, autosomal recessive, T cell negative, B cell positive, NK cell positive [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Severe combined immunodeficiency [ORDO Disease]
Currated CISMeF NLP mapping
- JAK3-deficient Severe Combined Immunodeficiency [NCIt concept]
- severe combined immunodeficiency, autosomal recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative [MeSH concept]
- severe combined immunodeficiency, autosomal recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative [MeSH Supplementary Concept]
DO Cross reference
- janus kinase-3 deficiency [DO Concept]
False automatic mappings
- severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive [DO Concept]
Genes related to phenotype
- Janus kinase 3 [OMIM gene]
HPO term(s)
- Abnormality of B cell physiology [HPO term]
- Absent natural killer cells [HPO term]
- Absent peripheral lymph nodes in presence of infection [HPO term]
- Autosomal recessive inheritance [HPO term]
- Chronic diarrhea [HPO term]
- Cutaneous anergy [HPO term]
- Decreased lymphocyte proliferation in response to anti-CD3 [HPO term]
- Failure to thrive [HPO term]
- Impaired lymphocyte transformation with phytohemagglutinin [HPO term]
- Infantile onset [HPO term]
- Intestinal obstruction [HPO term]
- Lymphopenia [HPO term]
- Meningitis [HPO term]
- Panhypogammaglobulinemia [HPO term]
- Pneumonia [HPO term]
- Recurrent lower respiratory tract infections [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Severe combined immunodeficiency [HPO term]
- T lymphocytopenia [HPO term]
ORDO concept(s)
- T-B+ severe combined immunodeficiency due to JAK3 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- JAK3-deficient Severe Combined Immunodeficiency [NCIt concept]
- Severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency (disorder) [SNOMED CT concept]
- severe combined immunodeficiency, autosomal recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative [MeSH Supplementary Concept]
- severe combined immunodeficiency, autosomal recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative [MeSH concept]

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