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MCID: IMM142
MIFTS: 19
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Immunodeficiency 50
Categories:
Genetic diseases, Blood diseases, Rare diseases, Immune diseases
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MalaCards integrated aliases for Immunodeficiency 50:
Characteristics:OMIM:57
Miscellaneous:
onset in early childhood female carriers are unaffected
Inheritance:
x-linked recessive HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Blood diseases Immune diseases |
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OMIM
:
57
IMD50 is an X-linked recessive primary immunodeficiency characterized by the onset of recurrent bacterial or varicella zoster virus (VZV) infections in early childhood. Laboratory studies show profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia. The disorder does not affect overall patient survival (summary by Lagresle-Peyrou et al., 2016). (300988)
MalaCards based summary : Immunodeficiency 50, is also known as immunodeficiency 50, x-linked recessive. An important gene associated with Immunodeficiency 50 is MSN (Moesin). Affiliated tissues include t cells, b cells and nk cells, and related phenotypes are recurrent respiratory infections and decreased antibody level in blood UniProtKB/Swiss-Prot : 75 Immunodeficiency 50: A primary immunodeficiency disorder characterized by onset of recurrent bacterial or varicella zoster virus infections in early childhood, profound lymphopenia, hypogammaglobulinemia, fluctuating monocytopenia and neutropenia, and a poor immune response to vaccine antigens. |
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:300988Human phenotypes related to Immunodeficiency 50:32
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MalaCards organs/tissues related to Immunodeficiency 50:41
T Cells,
B Cells,
Nk Cells
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Genes related to Immunodeficiency 50 (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 50:75
ClinVar genetic disease variations for Immunodeficiency 50:6
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Search
GEO
for disease gene expression data for Immunodeficiency 50.
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