KEGG   DISEASE: Other humoral immunodeficiencies
Entry
H00087                      Disease                                

Name
Other humoral immunodeficiencies
Description
Immunodeficiency, centromeric instability, facial anomaly syndrome (ICF syndrome) is a rare autosomal recessive syndrome associated with mutations in the DNA methyltransferase 3B gene (DNMT3B) in 75% of cases. Patients have variable hypogammaglobulinemia but typically have profound reduction or absence of two or more Ig isotypes. This leads to severe immunodeficiency and death due to infection often before adulthood. Deficiencies of B-cell receptors are caused by mutations in the genes that encode immunoglobulin heavy or light chains or their associated signaling molecules, leading to agammaglobulinemia or hypogammaglobulinemia. Mutations in immunoglobulin heavy-chain genes (such as gamma1, 2, 3, or 4; alpha1 or 2; and epsilon) cause deficiencies of individual classes or subclasses of immunoglobulins, but circulating B cells are present and overall antibody function is usually normal. Mutations in the kappa light-chain gene result in a population of immunoglobulin molecules with only lambda light chains instead of the usual mixture of kappa and lambda types.
Category
Immune system disease
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H00087  Other humoral immunodeficiencies
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
    H00087  Other humoral immunodeficiencies
Related
pathway
hsa00270  Cysteine and methionine metabolism
Gene
DNMT3B [HSA:1789] [KO:K17399]
IGKC
Ig heavy chain
Other DBs
ICD-11: 4A01.1Y
ICD-10: D80
MeSH: C537362
Reference
  Authors
Buckley RH.
  Title
Primary immunodeficiency diseases due to defects in lymphocytes.
  Journal
N Engl J Med 343:1313-24 (2000)
DOI:10.1056/NEJM200011023431806
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
Lim MS, Elenitoba-Johnson KS.
  Title
The molecular pathology of primary immunodeficiencies.
  Journal
J Mol Diagn 6:59-83 (2004)
DOI:10.1016/S1525-1578(10)60493-X
Reference
  Authors
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.
  Title
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
  Journal
J Allergy Clin Immunol 120:776-94 (2007)
DOI:10.1016/j.jaci.2007.08.053

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