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Severe combined immunodeficiency, partial

MedGen UID:
355456
•Concept ID:
C1865373
•
Disease or Syndrome
Synonym: SEVERE COMBINED IMMUNODEFICIENCY, PARTIAL
 
OMIM®: 602450; 605988

Professional guidelines

PubMed

Implementation of Universal Newborn Screening for Severe Combined Immunodeficiency in Singapore While Continuing Routine Bacille-Calmette-Guerin Vaccination Given at Birth.
Chan SB, Zhong Y, Lim SCJ, Poh S, Teh KL, Soh JY, Chong CY, Thoon KC, Seng M, Tan ES, Arkachaisri T, Liew WK
Front Immunol 2021;12:794221. Epub 2022 Jan 3 doi: 10.3389/fimmu.2021.794221. PMID: 35046952Free PMC Article
Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.
Arredondo-Vega FX, Santisteban I, Daniels S, Toutain S, Hershfield MS
Am J Hum Genet 1998 Oct;63(4):1049-59. doi: 10.1086/302054. PMID: 9758612Free PMC Article
Prenatal diagnosis and genetic analysis of X-linked immunodeficiency disorders.
Puck JM
Pediatr Res 1993 Jan;33(1 Suppl):S29-33; discussion S33-4. doi: 10.1203/00006450-199305001-00158. PMID: 8433872

Recent clinical studies

Etiology

Genetically-determined defects of T cell development.
Notarangelo LD
Allergy Asthma Proc 2024 Sep 1;45(5):326-331. doi: 10.2500/aap.2024.45.240028. PMID: 39294907Free PMC Article
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
Treatment of primary immunodeficiency with allogeneic transplant and gene therapy.
Pai SY
Hematology Am Soc Hematol Educ Program 2019 Dec 6;2019(1):457-465. doi: 10.1182/hematology.2019000052. PMID: 31808905Free PMC Article
Genetic and biochemical consequences of adenosine deaminase deficiency in humans.
Bose R, Nandagopal K
Indian J Biochem Biophys 2013 Oct;50(5):345-56. PMID: 24772956
Lessons from past experience in cancer immunotherapy and their application to cancer and AIDS treatment and prophylaxis.
Mathé G
Biomed Pharmacother 1989;43(8):551-61. doi: 10.1016/0753-3322(89)90032-2. PMID: 2576640

Diagnosis

Genetically-determined defects of T cell development.
Notarangelo LD
Allergy Asthma Proc 2024 Sep 1;45(5):326-331. doi: 10.2500/aap.2024.45.240028. PMID: 39294907Free PMC Article
Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients.
Yakici N, Kreins AY, Catak MC, Babayeva R, Erman B, Kenney H, Gungor HE, Cea PA, Kawai T, Bosticardo M, Delmonte OM, Adams S, Fan YT, Pala F, Turkyilmaz A, Howley E, Worth A, Kot H, Sefer AP, Kara A, Bulutoglu A, Bilgic-Eltan S, Altunbas MY, Bayram Catak F, Karakus IS, Karatay E, Tekeoglu SD, Eser M, Albayrak D, Citli S, Kiykim A, Karakoc-Aydiner E, Ozen A, Ghosh S, Gohlke H, Orhan F, Notarangelo LD, Davies EG, Baris S
Clin Immunol 2023 Oct;255:109757. Epub 2023 Sep 9 doi: 10.1016/j.clim.2023.109757. PMID: 37689091Free PMC Article
Adenosine deaminase deficiency: a review.
Flinn AM, Gennery AR
Orphanet J Rare Dis 2018 Apr 24;13(1):65. doi: 10.1186/s13023-018-0807-5. PMID: 29690908Free PMC Article
Cryptococcosis.
Negroni R
Clin Dermatol 2012 Nov-Dec;30(6):599-609. doi: 10.1016/j.clindermatol.2012.01.005. PMID: 23068147
Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.
Arredondo-Vega FX, Santisteban I, Daniels S, Toutain S, Hershfield MS
Am J Hum Genet 1998 Oct;63(4):1049-59. doi: 10.1086/302054. PMID: 9758612Free 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
Implementation of Universal Newborn Screening for Severe Combined Immunodeficiency in Singapore While Continuing Routine Bacille-Calmette-Guerin Vaccination Given at Birth.
Chan SB, Zhong Y, Lim SCJ, Poh S, Teh KL, Soh JY, Chong CY, Thoon KC, Seng M, Tan ES, Arkachaisri T, Liew WK
Front Immunol 2021;12:794221. Epub 2022 Jan 3 doi: 10.3389/fimmu.2021.794221. PMID: 35046952Free PMC Article
Modern management of primary T-cell immunodeficiencies.
Pachlopnik Schmid J, Güngör T, Seger R
Pediatr Allergy Immunol 2014 Jun;25(4):300-13. Epub 2014 Jan 3 doi: 10.1111/pai.12179. PMID: 24383740
Cryptococcosis.
Negroni R
Clin Dermatol 2012 Nov-Dec;30(6):599-609. doi: 10.1016/j.clindermatol.2012.01.005. PMID: 23068147
Basic and clinical immunology.
Chinen J, Shearer WT
J Allergy Clin Immunol 2005 Aug;116(2):411-8. doi: 10.1016/j.jaci.2005.05.010. PMID: 16083798

Prognosis

Vasculitis as a Major Morbidity Factor in Patients With Partial RAG Deficiency.
Geier CB, Farmer JR, Foldvari Z, Ujhazi B, Steininger J, Sleasman JW, Parikh S, Dilley MA, Pai SY, Henderson L, Hazen M, Neven B, Moshous D, Sharapova SO, Mihailova S, Yankova P, Naumova E, Özen S, Byram K, Fernandez J, Wolf HM, Eibl MM, Notarangelo LD, Calabrese LH, Walter JE
Front Immunol 2020;11:574738. Epub 2020 Oct 21 doi: 10.3389/fimmu.2020.574738. PMID: 33193364Free PMC Article
Suppression subtractive hybridization method for the identification of a new strain of murine hepatitis virus from xenografted SCID mice.
Islam MM, Toohey B, Purcell DF, Kannourakis G
Arch Virol 2015 Dec;160(12):2945-55. Epub 2015 Sep 8 doi: 10.1007/s00705-015-2592-y. PMID: 26347284Free PMC Article
Cryptococcosis.
Negroni R
Clin Dermatol 2012 Nov-Dec;30(6):599-609. doi: 10.1016/j.clindermatol.2012.01.005. PMID: 23068147
Skin manifestations in primary immunodeficient children.
Al-Herz W, Nanda A
Pediatr Dermatol 2011 Sep-Oct;28(5):494-501. Epub 2011 Mar 31 doi: 10.1111/j.1525-1470.2011.01409.x. PMID: 21453308
Basic and clinical immunology.
Chinen J, Shearer WT
J Allergy Clin Immunol 2005 Aug;116(2):411-8. doi: 10.1016/j.jaci.2005.05.010. PMID: 16083798

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
Partial loss of interleukin 2 receptor gamma function in pigs provides mechanistic insights for the study of human immunodeficiency syndrome.
Choi YJ, Lee K, Park WJ, Kwon DN, Park C, Do JT, Song H, Cho SK, Park KW, Brown AN, Samuel MS, Murphy CN, Prather RS, Kim JH
Oncotarget 2016 Aug 9;7(32):50914-50926. doi: 10.18632/oncotarget.10812. PMID: 27463006Free PMC Article
Suppression subtractive hybridization method for the identification of a new strain of murine hepatitis virus from xenografted SCID mice.
Islam MM, Toohey B, Purcell DF, Kannourakis G
Arch Virol 2015 Dec;160(12):2945-55. Epub 2015 Sep 8 doi: 10.1007/s00705-015-2592-y. PMID: 26347284Free PMC Article
Cryptococcosis.
Negroni R
Clin Dermatol 2012 Nov-Dec;30(6):599-609. doi: 10.1016/j.clindermatol.2012.01.005. PMID: 23068147
Severe combined immunodeficiency (SCID) in man: B cell-negative (B-) SCID patients exhibit an irregular recombination pattern at the JH locus.
Schwarz K, Hansen-Hagge TE, Knobloch C, Friedrich W, Kleihauer E, Bartram CR
J Exp Med 1991 Nov 1;174(5):1039-48. doi: 10.1084/jem.174.5.1039. PMID: 1940786Free PMC Article

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