Immunodeficiency 28 (IMD28)

Alias:
Ifngr2 Deficiency
Imd28
Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Interferon Gamma Receptor 2 Deficiency
Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Ifngammar2 Deficiency
Msmd Due to Complete Interferon Gamma Receptor 2 Deficiency
Immunodeficiency 28, Mycobacteriosis, Autosomal Recessive
Msmd Due to Complete Ifngammar2 Deficiency
Immunodeficiency 28, Mycobacteriosis
Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Interferon Gamma Receptor 2 Deficiency
Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Ifngammar2 Deficiency
Autosomal Recessive Msmd Due to Partial Interferon Gamma Receptor 2 Deficiency
Autosomal Recessive Msmd Due to Partial Ifngammar2 Deficiency
Immunodeficiency, Type 28, Mycobacteriosis
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Immunodeficiency 28, also known as ifngr2 deficiency, is related to crimean-congo hemorrhagic fever and zika fever. An important gene associated with Immunodeficiency 28 is IFNGR2 (Interferon Gamma Receptor 2), and among its related pathways/superpathways are Innate Immune System and TGF-Beta Pathway. Related phenotypes are immunodeficiency and recurrent mycobacterial infections
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
11
110
11

Medical Symptom

#
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

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
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