DISEASE: Hyper IgM syndromes, autosomal recessive type
Entry
H00086 Disease
Name
Hyper IgM syndromes, autosomal recessive type
Supergrp
Disorders of adaptive immunity [DS:H02526] Primary immunodeficiency disease [DS:H01725]
Description
There are three major categories of antibody deficiencies: (a) defects in early B cell development, (b) hyper-IgM syndromes (also called class switch recombination defects), and (c) common variable immunodeficiency (CVID). Category (b), hyper-IgM syndrome (HIM), represents a group of distinct entities characterized by defective normal or elevated IgM in the presence of diminished IgG and IgA levels. Seventy per cent of the cases are X-linked in inheritance, and others are autosomal recessive. In the autosomal recessive hyper IgM syndromes, the problem lies in the nucleotide-editing enzymes AICD or UNG. These enzymes are only present in the germinal center B cells, and defects in either disrupt B-cell development and antibody production. Patients with these syndromes typically have recurrent bacterial infections and often have lymphoid hyperplasia.
Category
Immune system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
Primary immunodeficiencies
4A01 Primary immunodeficiencies due to disorders of adaptive immunity
H00086 Hyper IgM syndromes, autosomal recessive type
Pathway-based classification of diseases [BR:br08402]
Replication and repair
nt06504 Base excision repair
H00086 Hyper IgM syndromes, autosomal recessive type
Signal transduction
nt06516 TNF signaling
H00086 Hyper IgM syndromes, autosomal recessive type
Revy P, Muto T, Levy Y, Geissmann F, Plebani A, Sanal O, Catalan N, Forveille M, Dufourcq-Labelouse R, Gennery A, Tezcan I, Ersoy F, Kayserili H, Ugazio AG, Brousse N, Muramatsu M, Notarangelo LD, Kinoshita K, Honjo T, Fischer A, Durandy A
Title
Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2).
