| H00087 | |
| H number | H00087 |
| 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 |
| Network | - |
| Gene | DNMT3B [HSA:1789] [KO:K17399] IGKC Ig heavy chain |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 4A01.1Y ICD-10: D80 MeSH: C537362 |
| Reference | PMID:11058677 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 PMID:17162365 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 PMID:15096561 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 PMID:17952897 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 |