KEGG   DISEASE: Hyper IgM syndromes, autosomal recessive type
H00086                      Disease                                
Hyper IgM syndromes, autosomal recessive type
Disorders of adaptive immunity [DS:H02526]
Primary immunodeficiency disease [DS:H01725]
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.
Immune system disease
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
hsa05340  Primary immunodeficiency
hsa04514  Cell adhesion molecules
hsa04672  Intestinal immune network for IgA production
nt06504  Base excision repair
(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
Kumar A, Teuber SS, Gershwin ME.
Current perspectives on primary immunodeficiency diseases.
Clin Dev Immunol 13:223-59 (2006)
Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
Genetic diagnosis of primary immune deficiencies.
Immunol Allergy Clin North Am 28:387-412, x (2008)
PMID:26903548 (CD40LG)
Hubbard N, Hagin D, Sommer K, Song Y, Khan I, Clough C, Ochs HD, Rawlings DJ, Scharenberg AM, Torgerson TR
Targeted gene editing restores regulated CD40L function in X-linked hyper-IgM syndrome.
Blood 127:2513-22 (2016)
PMID:11007475 (AICDA)
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
Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2).
Cell 102:565-75 (2000)
PMID:9842907 (CD40)
Revy P, Geissmann F, Debre M, Fischer A, Durandy A
Normal CD40-mediated activation of monocytes and dendritic cells from patients with hyper-IgM syndrome due to a CD40 pathway defect in B cells.
PMID:12958596 (UNG)
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
Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination.
Nat Immunol 4:1023-8 (2003)

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