Immunodeficiency 104, severe combined

Preferred Label : Immunodeficiency 104, severe combined;

Symbol : IMD104;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive; Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the interleukin 7 receptor gene (IL7R, 146661.0001); Caused by mutation in the protein tyrosine phosphatase, receptor type, c polypeptide gene (PTPRC, 151460.0002); Caused by mutation in the CD3 antigen, delta subunit gene (CD3D, 186790.0001); Caused by mutation in the CD3 antigen, epsilon subunit gene (CD3E, 186830.0003);

Prefixed ID : #608971;

Details

Origin ID

608971;

UMLS CUI

C5676890;

Automatic exact mappings (from CISMeF team)
- T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta [ORDO Disease]
- 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-Negative, NK Cell-Positive [MeSH 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]
Broader ORDO disease(s)
- Severe combined immunodeficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Severe Combined Immunodeficiency, Autosomal Recessive, T-Cell Negative, B Cell-Positive, NK Cell-Positive [NCIt concept]
- Severe combined immunodeficiency T-B+ due to CD45 deficiency [ICD-11 More detail]
- T-B+ severe combined immunodeficiency due to CD45 deficiency [ORDO Disease]
- T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency [ORDO Disease]
- severe combined immunodeficiency, autosomal recessive, T cell negative, B cell positive, 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 [DO Concept]
DO Cross reference
- severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive [DO Concept]
Genes related to phenotype
- Interleukin 7 receptor [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Diarrhea [HPO term]
- Eczema [HPO term]
- Failure to thrive secondary to recurrent infections [HPO term]
- Hepatomegaly [HPO term]
- Lymphadenopathy [HPO term]
- Oral ulcer [HPO term]
- Otitis media [HPO term]
- Pneumonia [HPO term]
- Recurrent opportunistic infections [HPO term]
- Severe combined immunodeficiency [HPO term]
- Splenomegaly [HPO term]
- T lymphocytopenia [HPO term]
ORDO concept(s)
- T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta [ORDO Disease]
- T-B+ severe combined immunodeficiency due to CD45 deficiency [ORDO Disease]
- T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Severe Combined Immunodeficiency, Autosomal Recessive, T-Cell Negative, B Cell-Positive, NK Cell-Positive [NCIt concept]
- T-B+ severe combined immunodeficiency due to CD45 deficiency [ORDO Disease]
- T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency [ORDO Disease]
- severe combined immunodeficiency, autosomal recessive, T cell negative, B cell positive, 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 [DO Concept]

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