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

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Immunodeficiency 27a, also known as imd27a, is related to immunodeficiency 28 and immunodeficiency 27b. An important gene associated with Immunodeficiency 27a is IFNGR1 (Interferon Gamma Receptor 1), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. Affiliated tissues include lymph node and bone marrow, and related phenotypes are splenomegaly and fever

Related ID：

MALACARDS：IMM166

OMIM：209950

MESH：C535530