| H00087 | |
| H番号 | H00087 |
| 名称 | 他の体液性免疫不全症 |
| 概要 | 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. |
| カテゴリ | 免疫系疾患 |
| ネットワーク | - |
| 病因遺伝子 | DNMT3B [HSA:1789] [KO:K17399] IGKC Ig heavy chain |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 4A01.1Y ICD-10: D80 MeSH: C537362 |
| 文献 | PMID:11058677 著者 Buckley RH. タイトル Primary immunodeficiency diseases due to defects in lymphocytes. 雑誌 N Engl J Med 343:1313-24 (2000) DOI:10.1056/NEJM200011023431806 PMID:17162365 著者 Kumar A, Teuber SS, Gershwin ME. タイトル Current perspectives on primary immunodeficiency diseases. 雑誌 Clin Dev Immunol 13:223-59 (2006) DOI:10.1080/17402520600800705 PMID:15096561 著者 Lim MS, Elenitoba-Johnson KS. タイトル The molecular pathology of primary immunodeficiencies. 雑誌 J Mol Diagn 6:59-83 (2004) DOI:10.1016/S1525-1578(10)60493-X PMID:17952897 著者 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. タイトル Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. 雑誌 J Allergy Clin Immunol 120:776-94 (2007) DOI:10.1016/j.jaci.2007.08.053 |