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Non-SCID combined immunodeficiency

MedGen UID:
1842865
Concept ID:
C5680098
Disease or Syndrome
Synonym: Non-severe combined immunodeficiency
 
Monarch Initiative: MONDO:0018814
Orphanet: ORPHA480549

Professional guidelines

PubMed

Patrawala M, Kobrynski L
Curr Opin Allergy Clin Immunol 2019 Dec;19(6):586-593. doi: 10.1097/ACI.0000000000000586. PMID: 31490207
Puck JM
Immunol Rev 2019 Jan;287(1):241-252. doi: 10.1111/imr.12729. PMID: 30565242Free PMC Article
van der Spek J, Groenwold RH, van der Burg M, van Montfrans JM
J Clin Immunol 2015 May;35(4):416-30. Epub 2015 Apr 17 doi: 10.1007/s10875-015-0152-6. PMID: 25893636Free PMC Article

Recent clinical studies

Etiology

Booth NA, Freeman CM, Wright BL, Rukasin C, Badia P, Daines M, Bauer CS, Miller H
J Clin Immunol 2022 Aug;42(6):1321-1329. Epub 2022 Jun 22 doi: 10.1007/s10875-022-01307-4. PMID: 35729475
Barreiros LA, Sousa JL, Geier C, Leiss-Piller A, Kanegae MPP, França TT, Boisson B, Lima AM, Costa-Carvalho BT, Aranda CS, de Moraes-Pinto MI, Segundo GRS, Ferreira JFS, Tavares FS, Guimarães FATM, Toledo EC, da Matta Ain AC, Moreira IF, Soldatelli G, Grumach AS, de Barros Dorna M, Weber CW, Di Gesu RSW, Dantas VM, Fernandes FR, Torgerson TR, Ochs HD, Bustamante J, Walter JE, Condino-Neto A
J Clin Immunol 2022 Aug;42(6):1171-1192. Epub 2022 May 3 doi: 10.1007/s10875-022-01275-9. PMID: 35503492
Lev A, Sharir I, Simon AJ, Levy S, Lee YN, Frizinsky S, Daas S, Saraf-Levy T, Broides A, Nahum A, Hanna S, Stepensky P, Toker O, Dalal I, Etzioni A, Stein J, Adam E, Hendel A, Marcus N, Almashanu S, Somech R
J Allergy Clin Immunol Pract 2022 Oct;10(10):2722-2731.e9. Epub 2022 Apr 26 doi: 10.1016/j.jaip.2022.04.013. PMID: 35487367
Thomas C, Durand-Zaleski I, Frenkiel J, Mirallié S, Léger A, Cheillan D, Picard C, Mahlaoui N, Riche VP, Roussey M, Sébille V, Rabetrano H, Dert C, Fischer A, Audrain M
Clin Immunol 2019 May;202:33-39. Epub 2019 Apr 1 doi: 10.1016/j.clim.2019.03.012. PMID: 30946917
Chinen J, Shearer WT
J Allergy Clin Immunol 2011 Feb;127(2):336-41. doi: 10.1016/j.jaci.2010.11.042. PMID: 21281863Free PMC Article

Diagnosis

Booth NA, Freeman CM, Wright BL, Rukasin C, Badia P, Daines M, Bauer CS, Miller H
J Clin Immunol 2022 Aug;42(6):1321-1329. Epub 2022 Jun 22 doi: 10.1007/s10875-022-01307-4. PMID: 35729475
Evans MO 2nd, Petersen MM, Khojah A, Jyonouchi SC, Edwardson GS, Khan YW, Connelly JA, Morris D, Majumdar S, McDermott DH, Walter JE, Murphy PM
J Clin Immunol 2021 Apr;41(3):621-628. Epub 2021 Jan 7 doi: 10.1007/s10875-020-00921-4. PMID: 33415666Free PMC Article
Buchbinder D, Walter JE, Butte MJ, Chan WY, Chitty Lopez M, Dimitriades VR, Dorsey MJ, Nugent DJ, Puck JM, Singh J, Collins CA
J Clin Immunol 2021 Feb;41(2):294-302. Epub 2021 Jan 7 doi: 10.1007/s10875-020-00931-2. PMID: 33411155Free PMC Article
Thomas C, Hubert G, Catteau A, Danielo M, Riche VP, Mahlaoui N, Moshous D, Audrain M
Arch Pediatr 2020 Nov;27(8):485-489. Epub 2020 Sep 11 doi: 10.1016/j.arcped.2020.08.008. PMID: 32928653
Puck JM
Immunol Rev 2019 Jan;287(1):241-252. doi: 10.1111/imr.12729. PMID: 30565242Free PMC Article

Therapy

Miyamoto S, Umeda K, Kurata M, Yanagimachi M, Iguchi A, Sasahara Y, Okada K, Koike T, Tanoshima R, Ishimura M, Yamada M, Sato M, Takahashi Y, Kajiwara M, Kawaguchi H, Inoue M, Hashii Y, Yabe H, Kato K, Atsuta Y, Imai K, Morio T
J Clin Immunol 2022 Apr;42(3):529-545. Epub 2022 Jan 4 doi: 10.1007/s10875-021-01199-w. PMID: 34981329
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
Evans MO 2nd, Petersen MM, Khojah A, Jyonouchi SC, Edwardson GS, Khan YW, Connelly JA, Morris D, Majumdar S, McDermott DH, Walter JE, Murphy PM
J Clin Immunol 2021 Apr;41(3):621-628. Epub 2021 Jan 7 doi: 10.1007/s10875-020-00921-4. PMID: 33415666Free PMC Article
Annamalai T, Lu Z, Jung K, Langel SN, Tuggle CK, Dekkers JCM, Waide EH, Kandasamy S, Saif LJ
Virus Res 2019 Jul 2;267:21-25. Epub 2019 May 2 doi: 10.1016/j.virusres.2019.05.002. PMID: 31054932Free PMC Article
Chinen J, Shearer WT
J Allergy Clin Immunol 2011 Feb;127(2):336-41. doi: 10.1016/j.jaci.2010.11.042. PMID: 21281863Free PMC Article

Prognosis

Chitty-Lopez M, Westermann-Clark E, Dawson I, Ujhazi B, Csomos K, Dobbs K, Le K, Yamazaki Y, Sadighi Akha AA, Chellapandian D, Oshrine B, Notarangelo LD, Sunkersett G, Leiding JW, Walter JE
Front Immunol 2020;11:1954. Epub 2020 Sep 29 doi: 10.3389/fimmu.2020.01954. PMID: 33117328Free PMC Article
Thomas C, Hubert G, Catteau A, Danielo M, Riche VP, Mahlaoui N, Moshous D, Audrain M
Arch Pediatr 2020 Nov;27(8):485-489. Epub 2020 Sep 11 doi: 10.1016/j.arcped.2020.08.008. PMID: 32928653
Thomas C, Durand-Zaleski I, Frenkiel J, Mirallié S, Léger A, Cheillan D, Picard C, Mahlaoui N, Riche VP, Roussey M, Sébille V, Rabetrano H, Dert C, Fischer A, Audrain M
Clin Immunol 2019 May;202:33-39. Epub 2019 Apr 1 doi: 10.1016/j.clim.2019.03.012. PMID: 30946917
Freeman AF
J Pediatric Infect Dis Soc 2018 Dec 26;7(suppl_2):S79-S82. doi: 10.1093/jpids/piy114. PMID: 30590619Free PMC Article
van der Spek J, Groenwold RH, van der Burg M, van Montfrans JM
J Clin Immunol 2015 May;35(4):416-30. Epub 2015 Apr 17 doi: 10.1007/s10875-015-0152-6. PMID: 25893636Free PMC Article

Clinical prediction guides

Mantravadi V, Bednarski JJ, Ritter MA, Gu H, Kolicheski AL, Horner C, Cooper MA, Kitcharoensakkul M
Front Immunol 2021;12:734096. Epub 2021 Sep 3 doi: 10.3389/fimmu.2021.734096. PMID: 34539671Free PMC Article
Chitty-Lopez M, Westermann-Clark E, Dawson I, Ujhazi B, Csomos K, Dobbs K, Le K, Yamazaki Y, Sadighi Akha AA, Chellapandian D, Oshrine B, Notarangelo LD, Sunkersett G, Leiding JW, Walter JE
Front Immunol 2020;11:1954. Epub 2020 Sep 29 doi: 10.3389/fimmu.2020.01954. PMID: 33117328Free PMC Article
Annamalai T, Lu Z, Jung K, Langel SN, Tuggle CK, Dekkers JCM, Waide EH, Kandasamy S, Saif LJ
Virus Res 2019 Jul 2;267:21-25. Epub 2019 May 2 doi: 10.1016/j.virusres.2019.05.002. PMID: 31054932Free PMC Article
van der Spek J, Groenwold RH, van der Burg M, van Montfrans JM
J Clin Immunol 2015 May;35(4):416-30. Epub 2015 Apr 17 doi: 10.1007/s10875-015-0152-6. PMID: 25893636Free PMC Article
Eapen M, Ahn KW, Orchard PJ, Cowan MJ, Davies SM, Fasth A, Hassebroek A, Ayas M, Bonfim C, O'Brien TA, Gross TG, Horwitz M, Horwitz E, Kapoor N, Kurtzberg J, Majhail N, Ringden O, Szabolcs P, Veys P, Baker KS
Biol Blood Marrow Transplant 2012 Sep;18(9):1438-45. Epub 2012 Mar 16 doi: 10.1016/j.bbmt.2012.03.003. PMID: 22430083Free PMC Article

Recent systematic reviews

Blom M, Zetterström RH, Stray-Pedersen A, Gilmour K, Gennery AR, Puck JM, van der Burg M
J Allergy Clin Immunol 2022 Apr;149(4):1428-1436. Epub 2021 Sep 16 doi: 10.1016/j.jaci.2021.08.026. PMID: 34537207Free PMC Article
van der Spek J, Groenwold RH, van der Burg M, van Montfrans JM
J Clin Immunol 2015 May;35(4):416-30. Epub 2015 Apr 17 doi: 10.1007/s10875-015-0152-6. PMID: 25893636Free PMC Article

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