KEGG   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 [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H00086  Hyper IgM syndromes, autosomal recessive type
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
hsa05340  Primary immunodeficiency
Related
pathway
hsa04514  Cell adhesion molecules
hsa04672  Intestinal immune network for IgA production
Network
nt06504  Base excision repair
Gene
(HIGM1) CD40LG [HSA:959] [KO:K03161]
(HIGM2) AICDA [HSA:57379] [KO:K10989]
(HIGM3) CD40 [HSA:958] [KO:K03160]
(HIGM5) UNG [HSA:7374] [KO:K03648]
Other DBs
ICD-11: 4A01.05
ICD-10: D80
MeSH: D053306
OMIM: 308230 605258 606843 608106
Reference
  Authors
Kumar A, Teuber SS, Gershwin ME.
  Title
Current perspectives on primary immunodeficiency diseases.
  Journal
Clin Dev Immunol 13:223-59 (2006)
DOI:10.1080/17402520600800705
Reference
  Authors
Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
  Title
Genetic diagnosis of primary immune deficiencies.
  Journal
Immunol Allergy Clin North Am 28:387-412, x (2008)
DOI:10.1016/j.iac.2008.01.004
Reference
PMID:26903548 (CD40LG)
  Authors
Hubbard N, Hagin D, Sommer K, Song Y, Khan I, Clough C, Ochs HD, Rawlings DJ, Scharenberg AM, Torgerson TR
  Title
Targeted gene editing restores regulated CD40L function in X-linked hyper-IgM syndrome.
  Journal
Blood 127:2513-22 (2016)
DOI:10.1182/blood-2015-11-683235
Reference
PMID:11007475 (AICDA)
  Authors
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).
  Journal
Cell 102:565-75 (2000)
DOI:10.1016/s0092-8674(00)00079-9
Reference
PMID:9842907 (CD40)
  Authors
Revy P, Geissmann F, Debre M, Fischer A, Durandy A
  Title
Normal CD40-mediated activation of monocytes and dendritic cells from patients with hyper-IgM syndrome due to a CD40 pathway defect in B cells.
  Journal
Reference
PMID:12958596 (UNG)
  Authors
Imai K, Slupphaug G, Lee WI, Revy P, Nonoyama S, Catalan N, Yel L, Forveille M, Kavli B, Krokan HE, Ochs HD, Fischer A, Durandy A
  Title
Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination.
  Journal
Nat Immunol 4:1023-8 (2003)
DOI:10.1038/ni974
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