Immunodeficiency 9 (IMD9)

Alias:

Immune Dysfunction with T-Cell Inactivation Due to Calcium Entry Defect 1

Combined Immunodeficiency Due to Orai1 Deficiency

Cid Due to Orai1 Deficiency

Imd9

Severe Combined Immunodeficiency Due to Crac Channel Dysfunction

Immunodeficiency, Type 9

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Immunodeficiency 9, also known as immune dysfunction with t-cell inactivation due to calcium entry defect 1, is related to combined immunodeficiency due to crac channel dysfunction and myopathy, tubular aggregate, 2. An important gene associated with Immunodeficiency 9 is ORAI1 (ORAI Calcium Release-Activated Calcium Modulator 1), and among its related pathways/superpathways is Antigen activates B Cell Receptor (BCR) leading to generation of second messengers. Affiliated tissues include bone marrow and t cells, and related phenotypes are hypotonia and ectodermal dysplasia

Related ID：

MALACARDS：IMM066

OMIM：612782

MESH：C557826