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Severe Combined Immunodeficiency due to RAG1 Deficiency

MedGen UID:
1784091
•Concept ID:
C5447328
•
Disease or Syndrome
Synonym: Severe Combined Immunodeficiency, T cell-Negative, B cell-Negative, RAG1

Definition

An inherited condition caused by mutation(s) in the RAG1 gene, encoding V(D)J recombination-activating protein 1. It is characterized by severe combined immunodeficiency that is both T-cell and B-cell negative. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSevere Combined Immunodeficiency due to RAG1 Deficiency

Professional guidelines

PubMed

Retrospective analysis of patients with severe combined immunodeficiency and alternative diagnostic criteria: A 20-year single centre experience.
Korkmaz SB, Karaselek MA, Aytekin SE, Tokgoz H, Reisli I, Guner S, Keles S
Int J Immunogenet 2023 Aug;50(4):177-184. Epub 2023 Jun 12 doi: 10.1111/iji.12624. PMID: 37308802
A Decade Experience on Severe Combined Immunodeficiency Phenotype in Oman, Bridging to Newborn Screening.
Al Sukaiti N, Ahmed K, Alshekaili J, Al Kindi M, Cook MC, Farsi TA
Front Immunol 2020;11:623199. Epub 2021 Jan 15 doi: 10.3389/fimmu.2020.623199. PMID: 33519828Free PMC Article
Lentiviral vectors for the treatment of primary immunodeficiencies.
Farinelli G, Capo V, Scaramuzza S, Aiuti A
J Inherit Metab Dis 2014 Jul;37(4):525-33. Epub 2014 Mar 12 doi: 10.1007/s10545-014-9690-y. PMID: 24619149

Recent clinical studies

Etiology

Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.
Karaatmaca B, Cagdas D, Esenboga S, Erman B, Tan C, Turul Ozgur T, Boztug K, van der Burg M, Sanal O, Tezcan I
Clin Exp Immunol 2024 Feb 7;215(2):160-176. doi: 10.1093/cei/uxad110. PMID: 37724703Free PMC Article
The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions.
Dvorak CC, Haddad E, Heimall J, Dunn E, Cowan MJ, Pai SY, Kapoor N, Satter LF, Buckley RH, O'Reilly RJ, Chandra S, Bednarski JJ, Williams O, Rayes A, Moore TB, Ebens CL, Davila Saldana BJ, Petrovic A, Chellapandian D, Cuvelier GDE, Vander Lugt MT, Caywood EH, Chandrakasan S, Eissa H, Goldman FD, Shereck E, Aquino VM, Desantes KB, Madden LM, Miller HK, Yu L, Broglie L, Gillio A, Shah AJ, Knutsen AP, Andolina JP, Joshi AY, Szabolcs P, Kapadia M, Martinez CA, Parrot RE, Sullivan KE, Prockop SE, Abraham RS, Thakar MS, Leiding JW, Kohn DB, Pulsipher MA, Griffith LM, Notarangelo LD, Puck JM
J Allergy Clin Immunol 2023 Feb;151(2):547-555.e5. Epub 2022 Nov 28 doi: 10.1016/j.jaci.2022.10.021. PMID: 36456360Free PMC Article
RAG deficiencies: Recent advances in disease pathogenesis and novel therapeutic approaches.
Bosticardo M, Pala F, Notarangelo LD
Eur J Immunol 2021 May;51(5):1028-1038. Epub 2021 Mar 22 doi: 10.1002/eji.202048880. PMID: 33682138Free PMC Article
A Decade Experience on Severe Combined Immunodeficiency Phenotype in Oman, Bridging to Newborn Screening.
Al Sukaiti N, Ahmed K, Alshekaili J, Al Kindi M, Cook MC, Farsi TA
Front Immunol 2020;11:623199. Epub 2021 Jan 15 doi: 10.3389/fimmu.2020.623199. PMID: 33519828Free PMC Article
Immune dysregulation in patients with RAG deficiency and other forms of combined immune deficiency.
Delmonte OM, Villa A, Notarangelo LD
Blood 2020 Feb 27;135(9):610-619. doi: 10.1182/blood.2019000923. PMID: 31942628Free PMC Article

Diagnosis

Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.
Karaatmaca B, Cagdas D, Esenboga S, Erman B, Tan C, Turul Ozgur T, Boztug K, van der Burg M, Sanal O, Tezcan I
Clin Exp Immunol 2024 Feb 7;215(2):160-176. doi: 10.1093/cei/uxad110. PMID: 37724703Free PMC Article
The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions.
Dvorak CC, Haddad E, Heimall J, Dunn E, Cowan MJ, Pai SY, Kapoor N, Satter LF, Buckley RH, O'Reilly RJ, Chandra S, Bednarski JJ, Williams O, Rayes A, Moore TB, Ebens CL, Davila Saldana BJ, Petrovic A, Chellapandian D, Cuvelier GDE, Vander Lugt MT, Caywood EH, Chandrakasan S, Eissa H, Goldman FD, Shereck E, Aquino VM, Desantes KB, Madden LM, Miller HK, Yu L, Broglie L, Gillio A, Shah AJ, Knutsen AP, Andolina JP, Joshi AY, Szabolcs P, Kapadia M, Martinez CA, Parrot RE, Sullivan KE, Prockop SE, Abraham RS, Thakar MS, Leiding JW, Kohn DB, Pulsipher MA, Griffith LM, Notarangelo LD, Puck JM
J Allergy Clin Immunol 2023 Feb;151(2):547-555.e5. Epub 2022 Nov 28 doi: 10.1016/j.jaci.2022.10.021. PMID: 36456360Free PMC Article
RAG deficiencies: Recent advances in disease pathogenesis and novel therapeutic approaches.
Bosticardo M, Pala F, Notarangelo LD
Eur J Immunol 2021 May;51(5):1028-1038. Epub 2021 Mar 22 doi: 10.1002/eji.202048880. PMID: 33682138Free PMC Article
A Decade Experience on Severe Combined Immunodeficiency Phenotype in Oman, Bridging to Newborn Screening.
Al Sukaiti N, Ahmed K, Alshekaili J, Al Kindi M, Cook MC, Farsi TA
Front Immunol 2020;11:623199. Epub 2021 Jan 15 doi: 10.3389/fimmu.2020.623199. PMID: 33519828Free PMC Article
The immune system in hypertension.
Harrison DG
Trans Am Clin Climatol Assoc 2014;125:130-38; discussion 138-40. PMID: 25125726Free PMC Article

Therapy

Partial correction of immunodeficiency by lentiviral vector gene therapy in mouse models carrying Rag1 hypomorphic mutations.
Castiello MC, Di Verniere M, Draghici E, Fontana E, Penna S, Sereni L, Zecchillo A, Minuta D, Uva P, Zahn M, Gil-Farina I, Annoni A, Iaia S, Ott de Bruin LM, Notarangelo LD, Pike-Overzet K, Staal FJT, Villa A, Capo V
Front Immunol 2023;14:1268620. Epub 2023 Nov 13 doi: 10.3389/fimmu.2023.1268620. PMID: 38022635Free PMC Article
DNA recombination defects in Kuwait: Clinical, immunologic and genetic profile.
Al-Herz W, Massaad MJ, Chou J, Notarangelo LD, Geha RS
Clin Immunol 2018 Feb;187:68-75. Epub 2017 Oct 16 doi: 10.1016/j.clim.2017.10.006. PMID: 29051008Free PMC Article
The immune system in hypertension.
Harrison DG
Trans Am Clin Climatol Assoc 2014;125:130-38; discussion 138-40. PMID: 25125726Free PMC Article
Lentiviral vectors for the treatment of primary immunodeficiencies.
Farinelli G, Capo V, Scaramuzza S, Aiuti A
J Inherit Metab Dis 2014 Jul;37(4):525-33. Epub 2014 Mar 12 doi: 10.1007/s10545-014-9690-y. PMID: 24619149
Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution.
Buckley RH
Annu Rev Immunol 2004;22:625-55. doi: 10.1146/annurev.immunol.22.012703.104614. PMID: 15032591

Prognosis

A variant of RAG1 gene identified in severe combined immunodeficiency: a case report.
Zhang X, Kang X, Yang M, Cai Z, Song Y, Zhou X, Cao J, Wang C, Huang K, Peng Y, He J, Xiao Z
BMC Pediatr 2023 Feb 3;23(1):56. doi: 10.1186/s12887-022-03822-0. PMID: 36732712Free PMC Article
Severe combined immunodeficiencies: Expanding the mutation spectrum in Turkey and identification of 12 novel variants.
Aykut A, Durmaz A, Karaca N, Gulez N, Genel F, Celmeli F, Ozturk G, Atay D, Aydogmus C, Kiykim A, Aksu G, Kutukculer N
Scand J Immunol 2022 Jun;95(6):e13163. Epub 2022 Mar 23 doi: 10.1111/sji.13163. PMID: 35303369
A novel homozygous RAG1 mutation is associated with severe combined immunodeficiency and neurological presentations.
Melika S, Hossein E, Mona S, Elham R, Samaneh Z, Sepideh S, Raul Jimenez H, Ana K, Kaan B, Nima R
Allergol Immunopathol (Madr) 2021;49(4):91-97. Epub 2021 Jul 1 doi: 10.15586/aei.v49i4.194. PMID: 34224223
A Decade Experience on Severe Combined Immunodeficiency Phenotype in Oman, Bridging to Newborn Screening.
Al Sukaiti N, Ahmed K, Alshekaili J, Al Kindi M, Cook MC, Farsi TA
Front Immunol 2020;11:623199. Epub 2021 Jan 15 doi: 10.3389/fimmu.2020.623199. PMID: 33519828Free PMC Article
Genetic mutations and immunological features of severe combined immunodeficiency patients in Iran.
Shahbazi Z, Yazdani R, Shahkarami S, Shahbazi S, Hamid M, Sadeghi-Shabestari M, Momen T, Aleyasin S, Esmaeilzadeh H, Darougar S, Delavari S, Mahdaviani SA, Ahanchian H, Behmanesh F, Kiaee F, Chavoshzade Z, Shariat M, Keramatipour M, Rezaei N, Abolhassani H, Parvaneh N, Mahdian R, Aghamohammadi A
Immunol Lett 2019 Dec;216:70-78. Epub 2019 Oct 4 doi: 10.1016/j.imlet.2019.10.001. PMID: 31589898

Clinical prediction guides

Transplantation after CD45-ADC corrects Rag1 immunodeficiency in congenic and haploidentical settings.
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
A variant of RAG1 gene identified in severe combined immunodeficiency: a case report.
Zhang X, Kang X, Yang M, Cai Z, Song Y, Zhou X, Cao J, Wang C, Huang K, Peng Y, He J, Xiao Z
BMC Pediatr 2023 Feb 3;23(1):56. doi: 10.1186/s12887-022-03822-0. PMID: 36732712Free PMC Article
A Decade Experience on Severe Combined Immunodeficiency Phenotype in Oman, Bridging to Newborn Screening.
Al Sukaiti N, Ahmed K, Alshekaili J, Al Kindi M, Cook MC, Farsi TA
Front Immunol 2020;11:623199. Epub 2021 Jan 15 doi: 10.3389/fimmu.2020.623199. PMID: 33519828Free PMC Article
Genetic mutations and immunological features of severe combined immunodeficiency patients in Iran.
Shahbazi Z, Yazdani R, Shahkarami S, Shahbazi S, Hamid M, Sadeghi-Shabestari M, Momen T, Aleyasin S, Esmaeilzadeh H, Darougar S, Delavari S, Mahdaviani SA, Ahanchian H, Behmanesh F, Kiaee F, Chavoshzade Z, Shariat M, Keramatipour M, Rezaei N, Abolhassani H, Parvaneh N, Mahdian R, Aghamohammadi A
Immunol Lett 2019 Dec;216:70-78. Epub 2019 Oct 4 doi: 10.1016/j.imlet.2019.10.001. PMID: 31589898
Thymocytes self-renewal: a major hope or a major threat?
Peaudecerf L, Krenn G, Gonçalves P, Vasseur F, Rocha B
Immunol Rev 2016 May;271(1):173-84. doi: 10.1111/imr.12408. PMID: 27088914

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