エントリ 名称 無ガンマグロブリン血症
下位グループ X連鎖無ガンマグロブリン血症 (AGMX)
上位グループ 概要 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 (a) consists of agammaglobulinaemias (AGM). Defects in early B cell development are characterized by the onset of recurrent bacterial infections in the first 5 years of life, profound hypogammaglobulinemia, markedly reduced or absent B cells in the peripheral circulation, and (in the bone marrow) a severe block in B cell differentiation before the production of surface immunoglobulin-positive B cells. Mutations in Btk, the gene responsible for X-linked agammaglobulinemia (XLA), account for approximately 85% of affected patients. Approximately half of the remaining patients have mutations in genes encoding components of the pre-B cell receptor (pre-BCR) or BCR, including mu heavy chain (IGHM); the signal transduction molecules Ig-alpha (CD79A) and Ig-beta (CD79B); and lambda 5 (IGLL1), which forms the surrogate light chain with Vpre-B. A small number of patients with defects in BLNK, a scaffold protein that assembles signal transduction molecules activated by cross-linking of the BCR, have been reported.
カテゴリ 免疫系疾患
階層分類 ICD-11 による疾患分類 [BR:jp08403 ]jp08402 ] BRITE hierarchy パスウェイ hsa04662 B cell receptor signaling pathway
ネットワーク 病因遺伝子 治療薬 人免疫グロブリン [DR:
D06458 ]
pH4処理酸性人免疫グロブリン・ボルヒアルロニダーゼアルファ [DR:
D13027 ]
pH4処理酸性人免疫グロブリン [DR:
D08779 ]
ポリエチレングリコール処理人免疫グロブリン [DR:
D08783 ]
乾燥イオン交換樹脂処理人免疫グロブリン [DR:
D08785 ]
乾燥スルホ化人免疫グロブリン [DR:
D08786 ]
乾燥ポリエチレングリコール処理人免疫グロブリン [DR:
D08788 ]
コメント AGM1 is caused by homozygous or compound heterozygous mutation in the mu heavy-chain gene (IGHM).
リンク 文献 著者 Conley ME, Dobbs AK, Farmer DM, Kilic S, Paris K, Grigoriadou S, Coustan-Smith E, Howard V, Campana D
タイトル Primary B cell immunodeficiencies: comparisons and contrasts.
雑誌 文献 著者 Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
タイトル Genetic diagnosis of primary immune deficiencies.
雑誌 文献 著者 Gao S, Hu S, Duan H, Wang L, Kong X
タイトル Clinical characteristics and prenatal diagnosis for 22 families in Henan Province of China with X-linked agammaglobulinemia (XLA) related to Bruton's tyrosine kinase (BTK) gene mutations.
雑誌 文献 著者 Keller B, Shoukier M, Schulz K, Bhatt A, Heine I, Strohmeier V, Speckmann C, Engels N, Warnatz K, Wienands J
タイトル Germline deletion of CIN85 in humans with X chromosome-linked antibody deficiency.
雑誌 文献 著者 Yel L, Minegishi Y, Coustan-Smith E, Buckley RH, Trubel H, Pachman LM, Kitchingman GR, Campana D, Rohrer J, Conley ME
タイトル Mutations in the mu heavy-chain gene in patients with agammaglobulinemia.
雑誌 文献 著者 Minegishi Y, Coustan-Smith E, Wang YH, Cooper MD, Campana D, Conley ME
タイトル Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia.
雑誌 文献 著者 Minegishi Y, Coustan-Smith E, Rapalus L, Ersoy F, Campana D, Conley ME
タイトル Mutations in Igalpha (CD79a) result in a complete block in B-cell development.
雑誌 文献 著者 Lagresle-Peyrou C, Millili M, Luce S, Boned A, Sadek H, Rouiller J, Frange P, Cros G, Cavazzana M, Andre-Schmutz I, Schiff C
タイトル The BLNK adaptor protein has a nonredundant role in human B-cell differentiation.
雑誌 文献 著者 Sawada A, Takihara Y, Kim JY, Matsuda-Hashii Y, Tokimasa S, Fujisaki H, Kubota K, Endo H, Onodera T, Ohta H, Ozono K, Hara J
タイトル A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans.
雑誌 文献 著者 Dobbs AK, Yang T, Farmer D, Kager L, Parolini O, Conley ME
タイトル Cutting edge: a hypomorphic mutation in Igbeta (CD79b) in a patient with immunodeficiency and a leaky defect in B cell development.
雑誌 文献 著者 Conley ME, Dobbs AK, Quintana AM, Bosompem A, Wang YD, Coustan-Smith E, Smith AM, Perez EE, Murray PJ
タイトル Agammaglobulinemia and absent B lineage cells in a patient lacking the p85alpha subunit of PI3K.
雑誌 文献 著者 Boisson B, Wang YD, Bosompem A, Ma CS, Lim A, Kochetkov T, Tangye SG, Casanova JL, Conley ME
タイトル A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells.
雑誌 文献 著者 Ben-Ali M, Yang J, Chan KW, Ben-Mustapha I, Mekki N, Benabdesselem C, Mellouli F, Bejaoui M, Yang W, Aissaoui L, Lau YL, Barbouche MR
タイトル Homozygous transcription factor 3 gene (TCF3) mutation is associated with severe hypogammaglobulinemia and B-cell acute lymphoblastic leukemia.
雑誌 文献 著者 Anzilotti C, Swan DJ, Boisson B, Deobagkar-Lele M, Oliveira C, Chabosseau P, Engelhardt KR, Xu X, Chen R, Alvarez L, Berlinguer-Palmini R, Bull KR, Cawthorne E, Cribbs AP, Crockford TL, Dang TS, Fearn A, Fenech EJ, de Jong SJ, Lagerholm BC, Ma CS, Sims D, van den Berg B, Xu Y, Cant AJ, Kleiner G, Leahy TR, de la Morena MT, Puck JM, Shapiro RS, van der Burg M, Chapman JR, Christianson JC, Davies B, McGrath JA, Przyborski S, Santibanez Koref M, Tangye SG, Werner A, Rutter GA, Padilla-Parra S, Casanova JL, Cornall RJ, Conley ME, Hambleton S
タイトル An essential role for the Zn(2+) transporter ZIP7 in B cell development.
雑誌 文献 著者 Le Coz C, Nguyen DN, Su C, Nolan BE, Albrecht AV, Xhani S, Sun D, Demaree B, Pillarisetti P, Khanna C, Wright F, Chen PA, Yoon S, Stiegler AL, Maurer K, Garifallou JP, Rymaszewski A, Kroft SH, Olson TS, Seif AE, Wertheim G, Grant SFA, Vo LT, Puck JM, Sullivan KE, Routes JM, Zakharova V, Shcherbina A, Mukhina A, Rudy NL, Hurst ACE, Atkinson TP, Boggon TJ, Hakonarson H, Abate AR, Hajjar J, Nicholas SK, Lupski JR, Verbsky J, Chinn IK, Gonzalez MV, Wells AD, Marson A, Poon GMK, Romberg N
タイトル Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients.
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