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IMD49
MCID: IMM141
MIFTS: 21
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Immunodeficiency 49 (IMD49)
Categories:
Genetic diseases, Immune diseases
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MalaCards integrated aliases for Immunodeficiency 49:
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
onset at birth mutations occur de novo two unrelated children have been reported (last curated august 2018) HPO:32
immunodeficiency 49:
Onset and clinical course congenital onset Inheritance autosomal dominant inheritance Classifications: |
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UniProtKB/Swiss-Prot
:
75
Immunodeficiency 49: A form of severe combined immunodeficiency characterized by severe T- cell lymphopenia, no detectable T-cell receptor excision circles, no naive helper CD4+ T-cells, and impaired T-cell proliferative response. In addition to primary immunodeficiency, affected individuals manifest multiple abnormal systemic features, including severe delayed psychomotor development, intellectual disability, spastic quadriplegia, and craniofacial abnormalities.
MalaCards based summary : Immunodeficiency 49, is also known as severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities. An important gene associated with Immunodeficiency 49 is BCL11B (BCL11B, BAF Complex Component). Affiliated tissues include t cells, b cells and nk cells, and related phenotypes are hypertelorism and intellectual disability
Description from OMIM:
617237
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:617237Human phenotypes related to Immunodeficiency 49:32 (show all 17)
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MalaCards organs/tissues related to Immunodeficiency 49:41
T Cells,
B Cells,
Nk Cells,
Skin,
Bone
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Genes related to Immunodeficiency 49 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 49:75
ClinVar genetic disease variations for Immunodeficiency 49:6
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Search
GEO
for disease gene expression data for Immunodeficiency 49.
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