Immunodeficiency 21 (IMD21)

Alias:

Monocytopenia and Mycobacterial Infection Syndrome

Monocytopenia with Susceptibility to Infections

Monomac

Gata2 Deficiency

Combined Immunodeficiency with Susceptibility to Mycobacterial, Viral and Fungal Infections

Monocyte-B-Natural Killer-Dendritic Cell Deficiency Syndrome

Dendritic Cell, Monocyte, B and Nk Lymphoid Deficiency

Imd21

Dcml

Monocytopenia with Susceptibility to Mycobacterial, Fungal, and Papillomavirus Infections and Myelodysplasia

Monocytopenia with Susceptibility to Mycobacterial Fungal and Papillomavirus Infections and Myelodysplasia

Combined Immunodeficiency with Susceptibility to Mycobacterial, Viral, and Fungal Infections

Monocytopenia with Mycobacterial, Fungal, and Papillomavirus Infections and Myelodysplasia

Combined Immunodeficiency with Susceptibility to Mycobacterial Viral and Fungal Infections

Dendritic Cell, Monocyte, B Lymphocyte, and Natural Killer Lymphocyte Deficiency

Dendritic Cell Monocyte Lymphocyte B and Natural Killer Lymphocyte Deficiency

Combined Immunodeficiency with Mycobacterial, Viral, and Fungal Infections

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Immunodeficiency 21, also known as monocytopenia and mycobacterial infection syndrome, is related to nk cell deficiency and pancytopenia. An important gene associated with Immunodeficiency 21 is GATA2 (GATA Binding Protein 2), and among its related pathways/superpathways are Assembly of the pre-replicative complex and Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers. The drugs Azacitidine and Tacrolimus have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and myeloid, and related phenotypes are aplastic anemia and immunodeficiency

Related ID：

MALACARDS：IMM078

OMIM：614172

MESH：D000077428