Immunodeficiency 27b (IMD27B)

Alias:
Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Ifngammar1 Deficiency
Imd27b
Autosomal Dominant Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Interferon Gamma Receptor 1 Deficiency
Autosomal Dominant Msmd Due to Partial Interferon Gamma Receptor 1 Deficiency
Autosomal Dominant Msmd Due to Partial Ifngammar1 Deficiency
Immunodeficiency 27b, Mycobacteriosis, Autosomal Dominant
Ifngr1 Deficiency, Autosomal Dominant
Immunodeficiency, Type 27b, Mycobacteriosis, Autosomal Dominant
Autosomal Dominant Immunodeficiency 27b, Mycobacteriosis
Immunodeficiency 27b, Mycobacteriosis, Ad
Autosomal Dominant Ifngr1 Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Immunodeficiency 27b, also known as autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar1 deficiency, is related to immunodeficiency 27a and helicobacter pylori infection. An important gene associated with Immunodeficiency 27b is IFNGR1 (Interferon Gamma Receptor 1), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. Related phenotypes are immunodeficiency and osteomyelitis
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adolescent
<1/1000000
16
180
7

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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