Immunodeficiency 32a (IMD32A)

Alias:
Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Irf8 Deficiency
Imd32a
Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Interferon Regulatory Factor 8 Deficiency
Msmd Due to Partial Interferon Regulatory Factor 8 Deficiency
Immunodeficiency 32a, Mycobacteriosis, Autosomal Dominant
Msmd Due to Partial Irf8 Deficiency
Cd11c-Positive/cd1c-Positive Dendritic Cell Deficiency, Autosomal Dominant
Autosomal Dominant Cd11c-Positive/cd1c-Positive Dendritic Cell Deficiency
Autosomal Dominant Immunodeficiency 32a, Mycobacteriosis
Irf8 Deficiency, Autosomal Dominant
Autosomal Dominant Irf8 Deficiency
Immunodeficiency, Type 32a
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Immunodeficiency 32a, also known as mendelian susceptibility to mycobacterial diseases due to partial irf8 deficiency, is related to cauda equina syndrome and lice infestation. An important gene associated with Immunodeficiency 32a is IRF8 (Interferon Regulatory Factor 8). Affiliated tissues include myeloid, and related phenotypes are fever and abnormality of immune system physiology
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
2
19
2

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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