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Immunodeficiency 56 (IMD56)

Alias:
Il21r Immunodeficiency
Imd56
Combined Immunodeficiency Due to Il21r Deficiency
Cryptosporidiosis-Chronic Cholangitis-Liver Disease Syndrome
Autosomal Recessive Primary Immunodeficiency Il21r-Related
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Immunodeficiency 56, is also known as il21r immunodeficiency. An important gene associated with Immunodeficiency 56 is IL21R (Interleukin 21 Receptor). Affiliated tissues include nk cells and b cells, and related phenotypes are recurrent respiratory infections and recurrent otitis media
Related ID：
MALACARDS：IMM191
OMIM：615207
MESH：D007153

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
1
7
3
IMM191

Medical Symptom

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

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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