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Hyper-Igm Syndrome Type 3 (MONDO:0011735)

A form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells.

Overview

Category

immune system disorder

hematologic disorder

Ontology ID

MONDO:0011735

Internal:12822

Synonyms

CD40 hyper-IgM syndrome

HIGM3

hyper-IgM syndrome caused by mutation in CD40

hyper-IgM syndrome due to CD40 deficiency

immunodeficiency with hyper-IgM type 3

CD40 deficiency

hyper IgM syndrome 3

hyper-IgM syndrome 3

immunodeficiency with hyper IgM type 3

immunodeficiency with hyper-IgM, type 3

Mapped terms

DOID:0060023

GARD:0010579

MEDGEN:328419

OMIM:606843

Orphanet:101090

UMLS:C1720957

Child terms

Unknown children.

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