Log In|Sign Up
中文Immunodeficiency 27a (IMD27A)
Alias:
Imd27a
Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Interferon Gamma Receptor 1 Deficiency
Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Ifngammar1 Deficiency
Autosomal Recessive Msmd Due to Partial Interferon Gamma Receptor 1 Deficiency
Autosomal Recessive Msmd Due to Partial Ifngammar1 Deficiency
Autosomal Recessive Immunodeficiency 27a, Mycobacteriosis
Autosomal Recessive Ifngr1 Deficiency
Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Interferon Gamma Receptor 1 Deficiency
Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Ifngammar1 Deficiency
Msmd Due to Complete Interferon Gamma Receptor 1 Deficiency
Immunodeficiency 27a, Mycobacteriosis, Autosomal Recessive
Familial Disseminated Atypical Mycobacterial Infection
Mycobacterial Disease, Mendelian Susceptibility to
Immunodeficiency, Type 27a, Mycobacteriosis, Ar
Msmd Due to Complete Ifngammar1 Deficiency
Immunodeficiency 27a, Mycobacteriosis, Ar
Interferon Gamma, Receptor 1, Deficiency
Ifngr1 Deficiency, Autosomal Recessive
Favorite
免疫缺陷27a，也称为imd27a，与免疫缺陷28和免疫缺陷27b有关。与免疫缺陷27a有关的重要基因是IFNGR1（干扰素γ受体1），其相关通路/超级通路包括先天免疫系统和免疫系统中的细胞因子信号通路。附属组织包括淋巴结和骨髓，相关表型包括脾肿大和发热。
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
