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Severe Combined Immunodeficiency with Absence of T, Normal B Cells

MedGen UID:
364744
•Concept ID:
C1883019
•
Disease or Syndrome

Definition

An inherited, severe immunodeficiency disorder characterized by abnormalities in the development and function of T cell immunity. The peripheral T lymphocytes are absent or in very low counts. The B lymphocyte counts are normal. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSevere Combined Immunodeficiency with Absence of T, Normal B Cells

Professional guidelines

PubMed

Congenital Athymia: Genetic Etiologies, Clinical Manifestations, Diagnosis, and Treatment.
Collins C, Sharpe E, Silber A, Kulke S, Hsieh EWY
J Clin Immunol 2021 Jul;41(5):881-895. Epub 2021 May 13 doi: 10.1007/s10875-021-01059-7. PMID: 33987750Free PMC Article
Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration.
Giżewska M, Durda K, Winter T, Ostrowska I, Ołtarzewski M, Klein J, Blankenstein O, Romanowska H, Krzywińska-Zdeb E, Patalan MF, Bartkowiak E, Szczerba N, Seiberling S, Birkenfeld B, Nauck M, von Bernuth H, Meisel C, Bernatowska EA, Walczak M, Pac M
Front Immunol 2020;11:1948. Epub 2020 Oct 16 doi: 10.3389/fimmu.2020.01948. PMID: 33178177Free PMC Article
Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency.
Barry JC, Crowley TB, Jyonouchi S, Heimall J, Zackai EH, Sullivan KE, McDonald-McGinn DM
J Clin Immunol 2017 Jul;37(5):476-485. Epub 2017 May 24 doi: 10.1007/s10875-017-0403-9. PMID: 28540525

Recent clinical studies

Etiology

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
Gene Editing Rescues In vitro T Cell Development of RAG2-Deficient Induced Pluripotent Stem Cells in an Artificial Thymic Organoid System.
Gardner CL, Pavel-Dinu M, Dobbs K, Bosticardo M, Reardon PK, Lack J, DeRavin SS, Le K, Bello E, Pala F, Delmonte OM, Malech H, Montel-Hagan A, Crooks G, Acuto O, Porteus MH, Notarangelo LD
J Clin Immunol 2021 Jul;41(5):852-862. Epub 2021 Mar 1 doi: 10.1007/s10875-021-00989-6. PMID: 33650026Free PMC Article
Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency.
Barry JC, Crowley TB, Jyonouchi S, Heimall J, Zackai EH, Sullivan KE, McDonald-McGinn DM
J Clin Immunol 2017 Jul;37(5):476-485. Epub 2017 May 24 doi: 10.1007/s10875-017-0403-9. PMID: 28540525
European experience of bone-marrow transplantation for severe combined immunodeficiency.
Fischer A, Landais P, Friedrich W, Morgan G, Gerritsen B, Fasth A, Porta F, Griscelli C, Goldman SF, Levinsky R
Lancet 1990 Oct 6;336(8719):850-4. doi: 10.1016/0140-6736(90)92348-l. PMID: 1976883
Diagnosis and classification of severe combined immunodeficiency disease.
Gelfand EW, Dosch HM
Birth Defects Orig Artic Ser 1983;19(3):65-72. PMID: 6360247

Diagnosis

Combined immunodeficiency and impaired PI3K signaling in a patient with biallelic LCP2 variants.
Edwards ESJ, Ojaimi S, Ngui J, Seo GH, Kim J, Chunilal S, Yablonski D, O'Hehir RE, van Zelm MC
J Allergy Clin Immunol 2023 Sep;152(3):807-813.e7. Epub 2023 May 19 doi: 10.1016/j.jaci.2023.04.020. PMID: 37211057
Congenital Athymia: Genetic Etiologies, Clinical Manifestations, Diagnosis, and Treatment.
Collins C, Sharpe E, Silber A, Kulke S, Hsieh EWY
J Clin Immunol 2021 Jul;41(5):881-895. Epub 2021 May 13 doi: 10.1007/s10875-021-01059-7. PMID: 33987750Free PMC Article
Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency.
Barry JC, Crowley TB, Jyonouchi S, Heimall J, Zackai EH, Sullivan KE, McDonald-McGinn DM
J Clin Immunol 2017 Jul;37(5):476-485. Epub 2017 May 24 doi: 10.1007/s10875-017-0403-9. PMID: 28540525
Gene therapy of X-linked severe combined immunodeficiency.
Hacein-Bey-Abina S, Fischer A, Cavazzana-Calvo M
Int J Hematol 2002 Nov;76(4):295-8. doi: 10.1007/BF02982686. PMID: 12463590
Diagnosis and classification of severe combined immunodeficiency disease.
Gelfand EW, Dosch HM
Birth Defects Orig Artic Ser 1983;19(3):65-72. PMID: 6360247

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
Protection of wild-type and severe combined immunodeficiency mice against an intranasal challenge by passive immunization with monoclonal antibodies to the Chlamydia trachomatis mouse pneumonitis major outer membrane protein.
Pal S, Bravo J, Peterson EM, de la Maza LM
Infect Immun 2008 Dec;76(12):5581-7. Epub 2008 Sep 22 doi: 10.1128/IAI.00574-08. PMID: 18809664Free PMC Article
Long-term efficacy of enzyme replacement therapy for adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID).
Chan B, Wara D, Bastian J, Hershfield MS, Bohnsack J, Azen CG, Parkman R, Weinberg K, Kohn DB
Clin Immunol 2005 Nov;117(2):133-43. Epub 2005 Aug 22 doi: 10.1016/j.clim.2005.07.006. PMID: 16112907
Gene therapy of X-linked severe combined immunodeficiency.
Hacein-Bey-Abina S, Fischer A, Cavazzana-Calvo M
Int J Hematol 2002 Nov;76(4):295-8. doi: 10.1007/BF02982686. PMID: 12463590
Long-term immune reconstitution and outcome after HLA-nonidentical T-cell-depleted bone marrow transplantation for severe combined immunodeficiency: a European retrospective study of 116 patients.
Haddad E, Landais P, Friedrich W, Gerritsen B, Cavazzana-Calvo M, Morgan G, Bertrand Y, Fasth A, Porta F, Cant A, Espanol T, Müller S, Veys P, Vossen J, Fischer A
Blood 1998 May 15;91(10):3646-53. PMID: 9573000

Prognosis

Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration.
Giżewska M, Durda K, Winter T, Ostrowska I, Ołtarzewski M, Klein J, Blankenstein O, Romanowska H, Krzywińska-Zdeb E, Patalan MF, Bartkowiak E, Szczerba N, Seiberling S, Birkenfeld B, Nauck M, von Bernuth H, Meisel C, Bernatowska EA, Walczak M, Pac M
Front Immunol 2020;11:1948. Epub 2020 Oct 16 doi: 10.3389/fimmu.2020.01948. PMID: 33178177Free PMC Article
Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype.
Serwas NK, Kansu A, Santos-Valente E, Kuloğlu Z, Demir A, Yaman A, Gamez Diaz LY, Artan R, Sayar E, Ensari A, Grimbacher B, Boztug K
Inflamm Bowel Dis 2015 Jan;21(1):40-7. doi: 10.1097/MIB.0000000000000266. PMID: 25479458
Three-dimensional clustering of human RAG2 gene mutations in severe combined immune deficiency.
Corneo B, Moshous D, Callebaut I, de Chasseval R, Fischer A, de Villartay JP
J Biol Chem 2000 Apr 28;275(17):12672-5. doi: 10.1074/jbc.275.17.12672. PMID: 10777560
Severe combined immunodeficiency of reduced severity due to homozygosity for an adenosine deaminase missense mutation (Arg253Pro).
Hirschhorn R, Yang DR, Insel RA, Ballow M
Cell Immunol 1993 Dec;152(2):383-93. doi: 10.1006/cimm.1993.1299. PMID: 8258146
European experience of bone-marrow transplantation for severe combined immunodeficiency.
Fischer A, Landais P, Friedrich W, Morgan G, Gerritsen B, Fasth A, Porta F, Griscelli C, Goldman SF, Levinsky R
Lancet 1990 Oct 6;336(8719):850-4. doi: 10.1016/0140-6736(90)92348-l. PMID: 1976883

Clinical prediction guides

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
Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration.
Giżewska M, Durda K, Winter T, Ostrowska I, Ołtarzewski M, Klein J, Blankenstein O, Romanowska H, Krzywińska-Zdeb E, Patalan MF, Bartkowiak E, Szczerba N, Seiberling S, Birkenfeld B, Nauck M, von Bernuth H, Meisel C, Bernatowska EA, Walczak M, Pac M
Front Immunol 2020;11:1948. Epub 2020 Oct 16 doi: 10.3389/fimmu.2020.01948. PMID: 33178177Free PMC Article
iPSC-Based Modeling of RAG2 Severe Combined Immunodeficiency Reveals Multiple T Cell Developmental Arrests.
Themeli M, Chhatta A, Boersma H, Prins HJ, Cordes M, de Wilt E, Farahani AS, Vandekerckhove B, van der Burg M, Hoeben RC, Staal FJT, Mikkers HMM
Stem Cell Reports 2020 Feb 11;14(2):300-311. Epub 2020 Jan 16 doi: 10.1016/j.stemcr.2019.12.010. PMID: 31956083Free PMC Article
Three-dimensional clustering of human RAG2 gene mutations in severe combined immune deficiency.
Corneo B, Moshous D, Callebaut I, de Chasseval R, Fischer A, de Villartay JP
J Biol Chem 2000 Apr 28;275(17):12672-5. doi: 10.1074/jbc.275.17.12672. PMID: 10777560
Abnormalities of T cell maturation and regulation in human beings with immunodeficiency disorders.
Reinherz EL, Cooper MD, Schlossman SF, Rosen FS
J Clin Invest 1981 Sep;68(3):699-705. doi: 10.1172/jci110305. PMID: 6974177Free PMC Article

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