IMD50
MCID: IMM142
MIFTS: 25
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Immunodeficiency 50 (IMD50)
Categories:
Blood diseases, Genetic diseases, Immune diseases, Rare diseases
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MalaCards integrated aliases for Immunodeficiency 50:
Characteristics:OMIM:56
Miscellaneous:
onset in early childhood female carriers are unaffected
Inheritance:
x-linked recessive HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Blood diseases Immune diseases
Orphanet: 58
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OMIM :
56
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, also known as immunodeficiency 50, x-linked recessive, is related to immune deficiency disease and lymphopenia. An important gene associated with Immunodeficiency 50 is MSN (Moesin). Affiliated tissues include t cells, nk cells and b cells, and related phenotypes are recurrent respiratory infections and recurrent urinary tract infections UniProtKB/Swiss-Prot : 73 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. |
Diseases related to Immunodeficiency 50 via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Immunodeficiency 50:31 (show all 6)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:300988 |
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MalaCards organs/tissues related to Immunodeficiency 50:40
T Cells,
Nk Cells,
B Cells,
Testes
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Articles related to Immunodeficiency 50:
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ClinVar genetic disease variations for Immunodeficiency 50:6
UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 50:73
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Search
GEO
for disease gene expression data for Immunodeficiency 50.
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