| H00093 | |
| H番号 | H00093 |
| 名称 | 複合免疫不全症 |
| 概要 | The term combined immunodeficiency (CID) is used to distinguish patients with low, but not absent, T-cell function from those with severe CID (SCID) characterized by profound deficiencies of T- and B-cell (and sometimes NK- cell) function. 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. The genetic anomaly in X-linked hyper-IgM syndrome has been mapped to Xq26, and resides in mutations of the CD40 ligand gene. ZAP-70 deficiency is inherited in an autosomal recessive manner. Recurrent and opportunistic infections occur within the first year of life. The mutations in genes responsible for CRAC channel function, ORAI1 and STIM1, cause the defect in Ca2+ influx. |
| カテゴリ | 原発性免疫不全症 |
| ネットワーク | nt06509(H00093) DNA replication nt06528(H00093) Calcium signaling nt06530(H00093) PI3K signaling |
| 病因遺伝子 | CD40LG (TNFSF5) [HSA:959] [KO:K03161] CD40 [HSA:958] [KO:K03160] PNP [HSA:4860] [KO:K03783] CD8A [HSA:925] [KO:K06458] (IMD6) IL2RG [HSA:3561] [KO:K05070] (IMD9) ORAI1 [HSA:84876] [KO:K16056] (IMD10) STIM1 [HSA:6786] [KO:K16059] (IMD11) CARD11 [HSA:84433] [KO:K07367] (IMD12) MALT1 [HSA:10892] [KO:K07369] (IMD15) IKBKB [HSA:3551] [KO:K07209] (IMD16) TNFRSF4 [HSA:7293] [KO:K05142] (IMD17) CD3G [HSA:917] [KO:K06452] (IMD22) LCK [HSA:3932] [KO:K05856] (IMD24) CTPS1 [HSA:1503] [KO:K01937] (IMD37) BCL10 [HSA:8915] [KO:K07368] (IMD40) DOCK2 [HSA:1794] [KO:K12367] (IMD48) ZAP70 [HSA:7535] [KO:K07360] (IMD55) GINS1 [HSA:9837] [KO:K10732] (IMD59) HYOU1 [HSA:10525] [KO:K09486] (IMD85) TOM1 [HSA:10043] [KO:K26401] (IMD97) PIK3CG [HSA:5294] [KO:K21289] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 4A01.1 ICD-10: D81 MeSH: D053632 OMIM: 308230 606843 613179 608957 312863 612782 612783 615206 617638 615468 618204 615592 615593 615607 615758 615897 616098 616433 617827 233600 619510 619802 |
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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 PMID:20004777 (CD40LG, CD40, CD3G, CD8A, ZAP70) 著者 Notarangelo LD, Fischer A, Geha RS, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C, Etzioni A, Hammartrom L, Nonoyama S, Ochs HD, Puck J, Roifman C, Seger R, Wedgwood J タイトル Primary immunodeficiencies: 2009 update. 雑誌 J Allergy Clin Immunol 124:1161-78 (2009) DOI:10.1016/j.jaci.2009.10.013 PMID:30885031 (PNP) 著者 Fekrvand S, Yazdani R, Abolhassani H, Ghaffari J, Aghamohammadi A タイトル The First Purine Nucleoside Phosphorylase Deficiency Patient Resembling IgA Deficiency and a Review of the Literature. 雑誌 Immunol Invest 48:410-430 (2019) DOI:10.1080/08820139.2019.1570249 PMID:7883965 (IL2RG) 著者 Schmalstieg FC, Leonard WJ, Noguchi M, Berg M, Rudloff HE, Denney RM, Dave SK, Brooks EG, Goldman AS タイトル Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency. 雑誌 J Clin Invest 95:1169-73 (1995) DOI:10.1172/JCI117765 PMID:20189884 (ORAI1, STIM1) 著者 Feske S, Picard C, Fischer A タイトル Immunodeficiency due to mutations in ORAI1 and STIM1. 雑誌 Clin Immunol 135:169-82 (2010) DOI:10.1016/j.clim.2010.01.011 PMID:23374270 (CARD11) 著者 Stepensky P, Keller B, Buchta M, Kienzler AK, Elpeleg O, Somech R, Cohen S, Shachar I, Miosge LA, Schlesier M, Fuchs I, Enders A, Eibel H, Grimbacher B, Warnatz K タイトル Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects. 雑誌 J Allergy Clin Immunol 131:477-85.e1 (2013) DOI:10.1016/j.jaci.2012.11.050 PMID:23727036 (MALT1) 著者 Jabara HH, Ohsumi T, Chou J, Massaad MJ, Benson H, Megarbane A, Chouery E, Mikhael R, Gorka O, Gewies A, Portales P, Nakayama T, Hosokawa H, Revy P, Herrod H, Le Deist F, Lefranc G, Ruland J, Geha RS タイトル A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency. 雑誌 J Allergy Clin Immunol 132:151-8 (2013) DOI:10.1016/j.jaci.2013.04.047 PMID:30337470 (IKBKB) 著者 Cardinez C, Miraghazadeh B, Tanita K, da Silva E, Hoshino A, Okada S, Chand R, Asano T, Tsumura M, Yoshida K, Ohnishi H, Kato Z, Yamazaki M, Okuno Y, Miyano S, Kojima S, Ogawa S, Andrews TD, Field MA, Burgio G, Morio T, Vinuesa CG, Kanegane H, Cook MC タイトル Gain-of-function IKBKB mutation causes human combined immune deficiency. 雑誌 J Exp Med 215:2715-2724 (2018) DOI:10.1084/jem.20180639 PMID:26215166 (TNFRSF4) 著者 Webb GJ, Hirschfield GM, Lane PJ タイトル OX40, OX40L and Autoimmunity: a Comprehensive Review. 雑誌 Clin Rev Allergy Immunol 50:312-32 (2016) DOI:10.1007/s12016-015-8498-3 PMID:22985903 (LCK) 著者 Hauck F, Randriamampita C, Martin E, Gerart S, Lambert N, Lim A, Soulier J, Maciorowski Z, Touzot F, Moshous D, Quartier P, Heritier S, Blanche S, Rieux-Laucat F, Brousse N, Callebaut I, Veillette A, Hivroz C, Fischer A, Latour S, Picard C タイトル Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency. 雑誌 J Allergy Clin Immunol 130:1144-1152.e11 (2012) DOI:10.1016/j.jaci.2012.07.029 PMID:24870241 (CTPS1) 著者 Martin E, Palmic N, Sanquer S, Lenoir C, Hauck F, Mongellaz C, Fabrega S, Nitschke P, Esposti MD, Schwartzentruber J, Taylor N, Majewski J, Jabado N, Wynn RF, Picard C, Fischer A, Arkwright PD, Latour S タイトル CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation. 雑誌 Nature 510:288-92 (2014) DOI:10.1038/nature13386 PMID:25365219 (BCL10) 著者 Torres JM, Martinez-Barricarte R, Garcia-Gomez S, Mazariegos MS, Itan Y, Boisson B, Rholvarez R, Jimenez-Reinoso A, del Pino L, Rodriguez-Pena R, Ferreira A, Hernandez-Jimenez E, Toledano V, Cubillos-Zapata C, Diaz-Almiron M, Lopez-Collazo E, Unzueta-Roch JL, Sanchez-Ramon S, Regueiro JR, Lopez-Granados E, Casanova JL, Perez de Diego R タイトル Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity. 雑誌 J Clin Invest 124:5239-48 (2014) DOI:10.1172/JCI77493 PMID:26083206 (DOCK2) 著者 Dobbs K, Dominguez Conde C, Zhang SY, Parolini S, Audry M, Chou J, Haapaniemi E, Keles S, Bilic I, Okada S, Massaad MJ, Rounioja S, Alwahadneh AM, Serwas NK, Capuder K, Ciftci E, Felgentreff K, Ohsumi TK, Pedergnana V, Boisson B, Haskologlu S, Ensari A, Schuster M, Moretta A, Itan Y, Patrizi O, Rozenberg F, Lebon P, Saarela J, Knip M, Petrovski S, Goldstein DB, Parrott RE, Savas B, Schambach A, Tabellini G, Bock C, Chatila TA, Comeau AM, Geha RS, Abel L, Buckley RH, Ikinciogullari A, Al-Herz W, Helminen M, Dogu F, Casanova JL, Boztug K, Notarangelo LD タイトル Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections. 雑誌 N Engl J Med 372:2409-22 (2015) DOI:10.1056/NEJMoa1413462 PMID:28414293 (GINS1) 著者 Cottineau J, Kottemann MC, Lach FP, Kang YH, Vely F, Deenick EK, Lazarov T, Gineau L, Wang Y, Farina A, Chansel M, Lorenzo L, Piperoglou C, Ma CS, Nitschke P, Belkadi A, Itan Y, Boisson B, Jabot-Hanin F, Picard C, Bustamante J, Eidenschenk C, Boucherit S, Aladjidi N, Lacombe D, Barat P, Qasim W, Hurst JA, Pollard AJ, Uhlig HH, Fieschi C, Michon J, Bermudez VP, Abel L, de Villartay JP, Geissmann F, Tangye SG, Hurwitz J, Vivier E, Casanova JL, Smogorzewska A, Jouanguy E タイトル Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency. 雑誌 J Clin Invest 127:1991-2006 (2017) DOI:10.1172/JCI90727 PMID:27913302 (HYOU1) 著者 Haapaniemi EM, Fogarty CL, Keskitalo S, Katayama S, Vihinen H, Ilander M, Mustjoki S, Krjutskov K, Lehto M, Hautala T, Eriksson O, Jokitalo E, Velagapudi V, Varjosalo M, Seppanen M, Kere J タイトル Combined immunodeficiency and hypoglycemia associated with mutations in hypoxia upregulated 1. 雑誌 J Allergy Clin Immunol 139:1391-1393.e11 (2017) DOI:10.1016/j.jaci.2016.09.050 PMID:31263572 (TOM1) 著者 Keskitalo S, Haapaniemi EM, Glumoff V, Liu X, Lehtinen V, Fogarty C, Rajala H, Chiang SC, Mustjoki S, Kovanen P, Lohi J, Bryceson YT, Seppanen M, Kere J, Heiskanen K, Varjosalo M タイトル Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease. 雑誌 NPJ Genom Med 4:14 (2019) DOI:10.1038/s41525-019-0088-5 PMID:33054089 (PIK3CG) 著者 Thian M, Hoeger B, Kamnev A, Poyer F, Kostel Bal S, Caldera M, Jimenez-Heredia R, Huemer J, Pickl WF, Gross M, Ehl S, Lucas CL, Menche J, Hutter C, Attarbaschi A, Dupre L, Boztug K タイトル Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation. 雑誌 Haematologica 105:e488 (2020) DOI:10.3324/haematol.2019.231399 |