Immunodeficiency 50 (IMD50)

Alias:

Combined Immunodeficiency Due to Moesin Deficiency

Imd50

X-Linked Moesin-Associated Immunodeficiency

Immunodeficiency 50, X-Linked Recessive

Msn-Related Combined Immunodeficiency

Cid Due to Moesin Deficiency

Immunodeficiency 50 X Linked Recessive

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Immunodeficiency 50, also known as combined immunodeficiency due to moesin deficiency, is related to turner syndrome and lymphopenia. An important gene associated with Immunodeficiency 50 is MSN (Moesin), and among its related pathways/superpathways are Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling and Cytoskeletal Signaling. Affiliated tissues include t cells and nk cells, and related phenotypes are recurrent respiratory infections and lymphopenia

Related ID：

MALACARDS：IMM142

OMIM：300988

MESH：D007153