Immunodeficiency 55 (IMD55)

Alias:

Combined Immunodeficiency Due to Gins1 Deficiency

Imd55

Combined Immunodeficiency with Intrauterine Growth Retardation-Natural Killer Cell Deficiency-Neutropenia

Combined Immunodeficiency with Intrauterine Growth Retardation-Nk Cell Deficiency-Neutropenia

Cid Due to Gins1 Deficiency

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Immunodeficiency 55, also known as combined immunodeficiency due to gins1 deficiency, is related to immunodeficiency 54 and hemophagocytic lymphohistiocytosis, familial, 2. An important gene associated with Immunodeficiency 55 is GINS1 (GINS Complex Subunit 1), and among its related pathways/superpathways are Type II interferon signaling and Interactions of natural killer cells in pancreatic cancer. Affiliated tissues include bone marrow and nk cells, and related phenotypes are abnormal facial shape and short stature

Related ID：

MALACARDS：IMM190

OMIM：617827

MESH：D007153