KEGG   DISEASE: Hyper IgM syndromes, autosomal recessive type
H00086                      Disease                                

Hyper IgM syndromes, autosomal recessive type
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.
Primary immunodeficiency
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
AID [HSA:57379] [KO:K10989]
UNG [HSA:7374] [KO:K03648]
CD40 [HSA:958] [KO:K03160]
Other DBs
ICD-11: 4A01.05
ICD-10: D80
MeSH: D053306
OMIM: 608106 605258 606843
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)
Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
J Allergy Clin Immunol 120:776-94 (2007)

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