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Recombinase activating gene 2 deficiency

MedGen UID:
940967
Concept ID:
CN257931
Disease or Syndrome
Synonym: RAG2 deficiency
 
Monarch Initiative: MONDO:0000573

Definition

A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. [from MONDO]

Term Hierarchy

Professional guidelines

PubMed

Kucherlapati MH, Esfahani S, Habibollahi P, Wang J, Still ER, Bronson RT, Mahmood U, Kucherlapati RS
PLoS One 2013;8(7):e68817. Epub 2013 Jul 23 doi: 10.1371/journal.pone.0068817. PMID: 23935891Free PMC Article
Buckley RH
Immunol Res 2000;22(2-3):237-51. doi: 10.1385/IR:22:2-3:237. PMID: 11339359

Recent clinical studies

Etiology

Pavel-Dinu M, Gardner CL, Nakauchi Y, Kawai T, Delmonte OM, Palterer B, Bosticardo M, Pala F, Viel S, Malech HL, Ghanim HY, Bode NM, Kurgan GL, Detweiler AM, Vakulskas CA, Neff NF, Sheikali A, Menezes ST, Chrobok J, Hernández González EM, Majeti R, Notarangelo LD, Porteus MH
Blood Adv 2024 Apr 9;8(7):1820-1833. doi: 10.1182/bloodadvances.2023011766. PMID: 38096800Free PMC Article
Tacconi EM, Lai X, Folio C, Porru M, Zonderland G, Badie S, Michl J, Sechi I, Rogier M, Matía García V, Batra AS, Rueda OM, Bouwman P, Jonkers J, Ryan A, Reina-San-Martin B, Hui J, Tang N, Bruna A, Biroccio A, Tarsounas M
EMBO Mol Med 2017 Oct;9(10):1398-1414. doi: 10.15252/emmm.201607446. PMID: 28729482Free PMC Article
Ceccaldi R, Liu JC, Amunugama R, Hajdu I, Primack B, Petalcorin MI, O'Connor KW, Konstantinopoulos PA, Elledge SJ, Boulton SJ, Yusufzai T, D'Andrea AD
Nature 2015 Feb 12;518(7538):258-62. Epub 2015 Feb 2 doi: 10.1038/nature14184. PMID: 25642963Free PMC Article
Kutukculer N, Gulez N, Karaca NE, Aksu G, Berdeli A
Ital J Pediatr 2012 Mar 16;38:8. doi: 10.1186/1824-7288-38-8. PMID: 22424479Free PMC Article
Stanford KI, Wang L, Castagnola J, Song D, Bishop JR, Brown JR, Lawrence R, Bai X, Habuchi H, Tanaka M, Cardoso WV, Kimata K, Esko JD
J Biol Chem 2010 Jan 1;285(1):286-94. Epub 2009 Nov 4 doi: 10.1074/jbc.M109.063701. PMID: 19889634Free PMC Article

Diagnosis

Guffanti F, Alvisi MF, Anastasia A, Ricci F, Chiappa M, Llop-Guevara A, Serra V, Fruscio R, Degasperi A, Nik-Zainal S, Bani MR, Lupia M, Giavazzi R, Rulli E, Damia G
Br J Cancer 2022 Jan;126(1):120-128. Epub 2021 Nov 3 doi: 10.1038/s41416-021-01609-1. PMID: 34732853Free PMC Article
Meshaal SS, El Hawary RE, Abd Elaziz DS, Eldash A, Alkady R, Lotfy S, Mauracher AA, Opitz L, Pachlopnik Schmid J, van der Burg M, Chou J, Galal NM, Boutros JA, Geha R, Elmarsafy AM
Clin Exp Immunol 2019 Feb;195(2):202-212. Epub 2018 Nov 4 doi: 10.1111/cei.13222. PMID: 30307608Free PMC Article
Tacconi EM, Lai X, Folio C, Porru M, Zonderland G, Badie S, Michl J, Sechi I, Rogier M, Matía García V, Batra AS, Rueda OM, Bouwman P, Jonkers J, Ryan A, Reina-San-Martin B, Hui J, Tang N, Bruna A, Biroccio A, Tarsounas M
EMBO Mol Med 2017 Oct;9(10):1398-1414. doi: 10.15252/emmm.201607446. PMID: 28729482Free PMC Article
Miyasaka A, Oda K, Ikeda Y, Wada-Hiraike O, Kashiyama T, Enomoto A, Hosoya N, Koso T, Fukuda T, Inaba K, Sone K, Uehara Y, Kurikawa R, Nagasaka K, Matsumoto Y, Arimoto T, Nakagawa S, Kuramoto H, Miyagawa K, Yano T, Kawana K, Osuga Y, Fujii T
BMC Cancer 2014 Mar 13;14:179. doi: 10.1186/1471-2407-14-179. PMID: 24625059Free PMC Article
Kutukculer N, Gulez N, Karaca NE, Aksu G, Berdeli A
Ital J Pediatr 2012 Mar 16;38:8. doi: 10.1186/1824-7288-38-8. PMID: 22424479Free PMC Article

Therapy

Kubota Y, Hoshiko T, Higashi T, Motoyama K, Okada S, Kimura S
Int J Mol Sci 2023 Nov 24;24(23) doi: 10.3390/ijms242316720. PMID: 38069042Free PMC Article
Tao L, Zhou Y, Pan X, Luo Y, Qiu J, Zhou X, Chen Z, Li Y, Xu L, Zhou Y, Zuo Z, Liu C, Wang L, Liu X, Tian X, Su N, Yang Z, Zhang Y, Gou K, Sang N, Liu H, Zou J, Xiao Y, Zhong X, Xu J, Yang X, Xiao K, Liu Y, Yang S, Peng Y, Han J, Cen X, Zhao Y
Nat Commun 2023 Nov 16;14(1):7430. doi: 10.1038/s41467-023-42850-x. PMID: 37973845Free PMC Article
Zschiebsch K, Fischer C, Wilken-Schmitz A, Geisslinger G, Channon K, Watschinger K, Tegeder I
J Cell Mol Med 2019 Feb;23(2):985-1000. Epub 2018 Nov 18 doi: 10.1111/jcmm.13999. PMID: 30450838Free PMC Article
Motoyama K, Onodera R, Tanaka N, Kameyama K, Higashi T, Kariya R, Okada S, Arima H
Biol Pharm Bull 2015;38(3):374-9. doi: 10.1248/bpb.b14-00531. PMID: 25757918
Kucherlapati MH, Esfahani S, Habibollahi P, Wang J, Still ER, Bronson RT, Mahmood U, Kucherlapati RS
PLoS One 2013;8(7):e68817. Epub 2013 Jul 23 doi: 10.1371/journal.pone.0068817. PMID: 23935891Free PMC Article

Prognosis

Guffanti F, Alvisi MF, Anastasia A, Ricci F, Chiappa M, Llop-Guevara A, Serra V, Fruscio R, Degasperi A, Nik-Zainal S, Bani MR, Lupia M, Giavazzi R, Rulli E, Damia G
Br J Cancer 2022 Jan;126(1):120-128. Epub 2021 Nov 3 doi: 10.1038/s41416-021-01609-1. PMID: 34732853Free PMC Article
Chitty-Lopez M, Westermann-Clark E, Dawson I, Ujhazi B, Csomos K, Dobbs K, Le K, Yamazaki Y, Sadighi Akha AA, Chellapandian D, Oshrine B, Notarangelo LD, Sunkersett G, Leiding JW, Walter JE
Front Immunol 2020;11:1954. Epub 2020 Sep 29 doi: 10.3389/fimmu.2020.01954. PMID: 33117328Free PMC Article
Suhane T, Bindumadhavan V, Fangaria N, Nair AS, Tabassum W, Muley P, Bhattacharyya MK, Bhattacharyya S
mSphere 2019 Mar 20;4(2) doi: 10.1128/mSphere.00082-19. PMID: 30894431Free PMC Article
Tirosh I, Yamazaki Y, Frugoni F, Ververs FA, Allenspach EJ, Zhang Y, Burns S, Al-Herz W, Noroski L, Walter JE, Gennery AR, van der Burg M, Notarangelo LD, Lee YN
J Allergy Clin Immunol 2019 Feb;143(2):726-735. Epub 2018 Jun 18 doi: 10.1016/j.jaci.2018.04.027. PMID: 29772310Free PMC Article
Miyasaka A, Oda K, Ikeda Y, Wada-Hiraike O, Kashiyama T, Enomoto A, Hosoya N, Koso T, Fukuda T, Inaba K, Sone K, Uehara Y, Kurikawa R, Nagasaka K, Matsumoto Y, Arimoto T, Nakagawa S, Kuramoto H, Miyagawa K, Yano T, Kawana K, Osuga Y, Fujii T
BMC Cancer 2014 Mar 13;14:179. doi: 10.1186/1471-2407-14-179. PMID: 24625059Free PMC Article

Clinical prediction guides

Pala F, Corsino C, Calzoni E, Villa A, Pittaluga S, Palchaudhuri R, Bosticardo M, Notarangelo LD
J Allergy Clin Immunol 2024 Jan;153(1):341-348.e3. Epub 2023 Aug 9 doi: 10.1016/j.jaci.2023.07.017. PMID: 37567393
Nelson ED, Larson E, Joo DJ, Mao S, Glorioso J, Abu Rmilah A, Zhou W, Jia Y, Mounajjed T, Shi M, Bois M, Wood A, Jin F, Whitworth K, Wells K, Spate A, Samuel M, Minshew A, Walters E, Rinaldo P, Lillegard JB, Johnson A, Amiot B, Hickey R, Prather R, Platt JL, Nyberg SL
Tissue Eng Part A 2022 Feb;28(3-4):150-160. Epub 2021 Oct 7 doi: 10.1089/ten.TEA.2021.0057. PMID: 34309416Free PMC Article
Menon RT, Shrestha AK, Barrios R, Reynolds C, Shivanna B
Int J Mol Sci 2020 Mar 31;21(7) doi: 10.3390/ijms21072408. PMID: 32244398Free PMC Article
Tirosh I, Yamazaki Y, Frugoni F, Ververs FA, Allenspach EJ, Zhang Y, Burns S, Al-Herz W, Noroski L, Walter JE, Gennery AR, van der Burg M, Notarangelo LD, Lee YN
J Allergy Clin Immunol 2019 Feb;143(2):726-735. Epub 2018 Jun 18 doi: 10.1016/j.jaci.2018.04.027. PMID: 29772310Free PMC Article
Kutukculer N, Gulez N, Karaca NE, Aksu G, Berdeli A
Ital J Pediatr 2012 Mar 16;38:8. doi: 10.1186/1824-7288-38-8. PMID: 22424479Free PMC Article

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