Cd40 Ligand Deficiency (HIGM1)

Alias:

Hyperimmunoglobulin M Syndrome

X-Linked Hyper Igm Syndrome

Hyper-Igm Syndrome Type 1

Higm1

X-Linked Hyper-Igm Syndrome

Xhigm

Hyper-Igm Syndrome Due to Cd40 Ligand Deficiency

Hyper-Igm Syndrome Due to Cd40l Deficiency

Hyper-Igm Immunodeficiency Syndrome, Type 1

Immunodeficiency with Hyper-Igm, Type 1

X-Linked Hyper-Igm Immunodeficiency

Hyper-Igm Immunodeficiency Syndrome

Hyper-Igm Syndrome 1

Higmx-1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Cd40 Ligand Deficiency, also known as hyperimmunoglobulin m syndrome, is related to immunodeficiency with hyper-igm, type 5 and immunodeficiency with hyper-igm, type 2, and has symptoms including diarrhea An important gene associated with Cd40 Ligand Deficiency is CD40LG (CD40 Ligand), and among its related pathways/superpathways are ERK Signaling and Innate Immune System. The drugs gamma-Globulins and Immunoglobulin G have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and t cells, and related phenotypes are Reduced mammosphere formation and homeostasis/metabolism

Related ID：

MALACARDS：CD4003

MESH：D053306