Immunodeficiency with Hyper-Igm, Type 3 (HIGM3)

Alias:

Hyper-Igm Syndrome Type 3

Higm3

Hyper-Igm Syndrome Due to Cd40 Deficiency

Immunodeficiency with Hyper Igm Type 3

Hyper-Igm Syndrome 3

Hyper-Igm Immunodeficiency Syndrome, Type 3

Immunodeficiency, with Hyper Igm, Type 3

Type 3 Hyper-Igm Immunodeficiency

Immunodeficiency with Hyper-Igm 3

Hyper-Igm Immunodeficiency Type 3

Cd40 Deficiency

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Immunodeficiency with Hyper-Igm, Type 3, also known as hyper-igm syndrome type 3, is related to multiple congenital anomalies-hypotonia-seizures syndrome 3 and cd40 ligand deficiency. An important gene associated with Immunodeficiency with Hyper-Igm, Type 3 is CD40 (CD40 Molecule), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. Affiliated tissues include b cells and t cells, and related phenotypes are immunodeficiency and neutropenia

Related ID：

MALACARDS：IMM105

OMIM：606843

MESH：D053306