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T-B+ severe combined immunodeficiency

MedGen UID:
1842847
•Concept ID:
C5679894
•
Disease or Syndrome
Synonyms: T-B+ SCID; T-cell negative B-cell positive SCID
 
Monarch Initiative: MONDO:0044200
Orphanet: ORPHA317416

Definition

T-B+ severe combined immunodeficiency (SCID; see this term) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. [from ORDO]

Professional guidelines

PubMed

Approaches to patients with variants in RAG genes: from diagnosis to timely treatment.
Bulkhi AA, Dasso JF, Schuetz C, Walter JE
Expert Rev Clin Immunol 2019 Oct;15(10):1033-1046. Epub 2019 Oct 10 doi: 10.1080/1744666X.2020.1670060. PMID: 31535575
Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome.
Tabori U, Mark Z, Amariglio N, Etzioni A, Golan H, Biloray B, Toren A, Rechavi G, Dalal I
Clin Genet 2004 Apr;65(4):322-6. doi: 10.1111/j.1399-0004.2004.00227.x. PMID: 15025726

Recent clinical studies

Etiology

Approaches to patients with variants in RAG genes: from diagnosis to timely treatment.
Bulkhi AA, Dasso JF, Schuetz C, Walter JE
Expert Rev Clin Immunol 2019 Oct;15(10):1033-1046. Epub 2019 Oct 10 doi: 10.1080/1744666X.2020.1670060. PMID: 31535575
Phenotypical heterogeneity in RAG-deficient patients from a highly consanguineous population.
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
Bone marrow transplantation for T-B- severe combined immunodeficiency disease in Athabascan-speaking native Americans.
O'Marcaigh AS, DeSantes K, Hu D, Pabst H, Horn B, Li L, Cowan MJ
Bone Marrow Transplant 2001 Apr;27(7):703-9. doi: 10.1038/sj.bmt.1702831. PMID: 11360109
Rapid protein-based assays for the diagnosis of T-B+ severe combined immunodeficiency.
Gilmour KC, Cranston T, Loughlin S, Gwyther J, Lester T, Espanol T, Hernandez M, Savoldi G, Davies EG, Abinun M, Kinnon C, Jones A, Gaspar HB
Br J Haematol 2001 Mar;112(3):671-6. doi: 10.1046/j.1365-2141.2001.02578.x. PMID: 11260071
Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients.
Stephan JL, Vlekova V, Le Deist F, Blanche S, Donadieu J, De Saint-Basile G, Durandy A, Griscelli C, Fischer A
J Pediatr 1993 Oct;123(4):564-72. doi: 10.1016/s0022-3476(05)80951-5. PMID: 8410508

Diagnosis

Whole-exome sequencing of T(-) B(+) severe combined immunodeficiency in Egyptian infants, JAK3 predominance and novel variants.
El Hawary R, Meshaal S, Mauracher AA, Opitz L, Abd Elaziz D, Lotfy S, Eldash A, Boutros J, Galal N, Pachlopnik Schmid J, Elmarsafy A
Clin Exp Immunol 2021 Mar;203(3):448-457. Epub 2020 Nov 2 doi: 10.1111/cei.13536. PMID: 33040328Free PMC Article
Approaches to patients with variants in RAG genes: from diagnosis to timely treatment.
Bulkhi AA, Dasso JF, Schuetz C, Walter JE
Expert Rev Clin Immunol 2019 Oct;15(10):1033-1046. Epub 2019 Oct 10 doi: 10.1080/1744666X.2020.1670060. PMID: 31535575
Phenotypical heterogeneity in RAG-deficient patients from a highly consanguineous population.
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
DNA-PKcs deficiency in human: long predicted, finally found.
van der Burg M, van Dongen JJ, van Gent DC
Curr Opin Allergy Clin Immunol 2009 Dec;9(6):503-9. doi: 10.1097/ACI.0b013e3283327e41. PMID: 19823081
Novel immunodeficiency data servers.
Väliaho J, Riikonen P, Vihinen M
Immunol Rev 2000 Dec;178:177-85. doi: 10.1034/j.1600-065x.2000.17807.x. PMID: 11213802

Therapy

PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies caused by V(D)J recombination defects.
Berland A, Rosain J, Kaltenbach S, Allain V, Mahlaoui N, Melki I, Fievet A, Dubois d'Enghien C, Ouachée-Chardin M, Perrin L, Auger N, Cipe FE, Finocchi A, Dogu F, Suarez F, Moshous D, Leblanc T, Belot A, Fieschi C, Boutboul D, Malphettes M, Galicier L, Oksenhendler E, Blanche S, Fischer A, Revy P, Stoppa-Lyonnet D, Picard C, de Villartay JP
J Allergy Clin Immunol 2019 Jan;143(1):325-334.e2. Epub 2018 Jun 12 doi: 10.1016/j.jaci.2018.05.028. PMID: 29906526
Novel RAG2 mutation in a patient with T- B- severe combined immunodeficiency and disseminated BCG disease.
Sadeghi-Shabestari M, Vesal S, Jabbarpour-Bonyadi M, de Villatay JP, Fischer A, Rezaei N
J Investig Allergol Clin Immunol 2009;19(6):494-6. PMID: 20128425

Prognosis

Novel RAG2 mutation in a patient with T- B- severe combined immunodeficiency and disseminated BCG disease.
Sadeghi-Shabestari M, Vesal S, Jabbarpour-Bonyadi M, de Villatay JP, Fischer A, Rezaei N
J Investig Allergol Clin Immunol 2009;19(6):494-6. PMID: 20128425
DNA-PKcs deficiency in human: long predicted, finally found.
van der Burg M, van Dongen JJ, van Gent DC
Curr Opin Allergy Clin Immunol 2009 Dec;9(6):503-9. doi: 10.1097/ACI.0b013e3283327e41. PMID: 19823081
Bone marrow transplantation for T-B- severe combined immunodeficiency disease in Athabascan-speaking native Americans.
O'Marcaigh AS, DeSantes K, Hu D, Pabst H, Horn B, Li L, Cowan MJ
Bone Marrow Transplant 2001 Apr;27(7):703-9. doi: 10.1038/sj.bmt.1702831. PMID: 11360109
N-terminal truncated human RAG1 proteins can direct T-cell receptor but not immunoglobulin gene rearrangements.
Noordzij JG, Verkaik NS, Hartwig NG, de Groot R, van Gent DC, van Dongen JJ
Blood 2000 Jul 1;96(1):203-9. PMID: 10891452
Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients.
Stephan JL, Vlekova V, Le Deist F, Blanche S, Donadieu J, De Saint-Basile G, Durandy A, Griscelli C, Fischer A
J Pediatr 1993 Oct;123(4):564-72. doi: 10.1016/s0022-3476(05)80951-5. PMID: 8410508

Clinical prediction guides

IL-7 receptor signaling drives human B-cell progenitor differentiation and expansion.
Kaiser FMP, Janowska I, Menafra R, de Gier M, Korzhenevich J, Pico-Knijnenburg I, Khatri I, Schulz A, Kuijpers TW, Lankester AC, Konstantinidis L, Erlacher M, Kloet S, van Schouwenburg PA, Rizzi M, van der Burg M
Blood 2023 Sep 28;142(13):1113-1130. doi: 10.1182/blood.2023019721. PMID: 37369082Free PMC Article
HyperIgE in hypomorphic recombination-activating gene defects.
Castiello MC, Brandas C, Capo V, Villa A
Curr Opin Immunol 2023 Feb;80:102279. Epub 2022 Dec 16 doi: 10.1016/j.coi.2022.102279. PMID: 36529093
DNA-PKcs deficiency in human: long predicted, finally found.
van der Burg M, van Dongen JJ, van Gent DC
Curr Opin Allergy Clin Immunol 2009 Dec;9(6):503-9. doi: 10.1097/ACI.0b013e3283327e41. PMID: 19823081
Long-term T cell immune reconstitution in 2 SCID patients after BMT.
Godthelp BC, van Tol MJ, Vossen JM, van den Elsen PJ
Hum Immunol 1998 Apr;59(4):225-38. doi: 10.1016/s0198-8859(98)00013-5. PMID: 9568798
Development of autologous, oligoclonal, poorly functioning T lymphocytes in a patient with autosomal recessive severe combined immunodeficiency caused by defects of the Jak3 tyrosine kinase.
Brugnoni D, Notarangelo LD, Sottini A, Airò P, Pennacchio M, Mazzolari E, Signorini S, Candotti F, Villa A, Mella P, Vezzoni P, Cattaneo R, Ugazio AG, Imberti L
Blood 1998 Feb 1;91(3):949-55. PMID: 9446656

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