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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

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
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

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
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
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
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
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

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
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
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
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
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

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
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

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
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
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
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
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

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
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
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
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
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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