U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Non-SCID combined immunodeficiency

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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNon-SCID combined immunodeficiency

Professional guidelines

PubMed

Nonsevere combined immunodeficiency T-cell lymphopenia identified through newborn screening.
Patrawala M, Kobrynski L
Curr Opin Allergy Clin Immunol 2019 Dec;19(6):586-593. doi: 10.1097/ACI.0000000000000586. PMID: 31490207
Newborn screening for severe combined immunodeficiency and T-cell lymphopenia.
Puck JM
Immunol Rev 2019 Jan;287(1):241-252. doi: 10.1111/imr.12729. PMID: 30565242Free PMC Article
TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review.
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

Severe Combined Immunodeficiency (SCID) Screening in Arizona: Lessons Learned from the First 2 Years.
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
SCID and Other Inborn Errors of Immunity with Low TRECs - the Brazilian Experience.
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
Lessons Learned From Five Years of Newborn Screening for Severe Combined Immunodeficiency in Israel.
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
Clinical and economic aspects of newborn screening for severe combined immunodeficiency: DEPISTREC study results.
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
Advances in basic and clinical immunology in 2010.
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

Severe Combined Immunodeficiency (SCID) Screening in Arizona: Lessons Learned from the First 2 Years.
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
TREC Screening for WHIM Syndrome.
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
When Screening for Severe Combined Immunodeficiency (SCID) with T Cell Receptor Excision Circles Is Not SCID: a Case-Based Review.
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
Review: Why screen for severe combined immunodeficiency disease?
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
Newborn screening for severe combined immunodeficiency and T-cell lymphopenia.
Puck JM
Immunol Rev 2019 Jan;287(1):241-252. doi: 10.1111/imr.12729. PMID: 30565242Free PMC Article

Therapy

CD3(+)TCRαβ/CD19(+)-Depleted Mismatched Family or Unrelated Donor Salvage Stem Cell Transplantation for Graft Dysfunction in Inborn Errors of Immunity.
Ramanathan S, Lum SH, Nademi Z, Carruthers K, Watson H, Flood T, Owens S, Williams E, Hambleton S, Gennery AR, Slatter M
Transplant Cell Ther 2023 Aug;29(8):513.e1-513.e9. Epub 2023 Jun 4 doi: 10.1016/j.jtct.2023.05.019. PMID: 37279857
TREC Screening for WHIM Syndrome.
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
Outcome of Non-hematological Autoimmunity After Hematopoietic Cell Transplantation in Children with Primary Immunodeficiency.
Lum SH, Elfeky R, Achini FR, Margarit-Soler A, Cinicola B, Perez-Heras I, Nademi Z, Flood T, Cheetham T, Worth A, Qasim W, Amin R, Rao K, Chiesa R, Bredius RGM, Amrolia P, Abinun M, Hambleton S, Veys P, Gennery AR, Lankester A, Slatter M
J Clin Immunol 2021 Jan;41(1):171-184. Epub 2020 Nov 3 doi: 10.1007/s10875-020-00895-3. PMID: 33141919
Infectivity of GII.4 human norovirus does not differ between T-B-NK(+) severe combined immunodeficiency (SCID) and non-SCID gnotobiotic pigs, implicating the role of NK cells in mediation of human norovirus infection.
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
Advances in basic and clinical immunology in 2010.
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

Outcome of Non-hematological Autoimmunity After Hematopoietic Cell Transplantation in Children with Primary Immunodeficiency.
Lum SH, Elfeky R, Achini FR, Margarit-Soler A, Cinicola B, Perez-Heras I, Nademi Z, Flood T, Cheetham T, Worth A, Qasim W, Amin R, Rao K, Chiesa R, Bredius RGM, Amrolia P, Abinun M, Hambleton S, Veys P, Gennery AR, Lankester A, Slatter M
J Clin Immunol 2021 Jan;41(1):171-184. Epub 2020 Nov 3 doi: 10.1007/s10875-020-00895-3. PMID: 33141919
Review: Why screen for severe combined immunodeficiency disease?
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
Clinical and economic aspects of newborn screening for severe combined immunodeficiency: DEPISTREC study results.
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
Hematopoietic Stem Cell Transplantation in Primary Immunodeficiencies Beyond Severe Combined Immunodeficiency.
Freeman AF
J Pediatric Infect Dis Soc 2018 Dec 26;7(suppl_2):S79-S82. doi: 10.1093/jpids/piy114. PMID: 30590619Free PMC Article
TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review.
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

Immunological Findings and Clinical Outcomes of Infants With Positive Newborn Screening for Severe Combined Immunodeficiency From a Tertiary Care Center in the U.S.
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
Outcome of Non-hematological Autoimmunity After Hematopoietic Cell Transplantation in Children with Primary Immunodeficiency.
Lum SH, Elfeky R, Achini FR, Margarit-Soler A, Cinicola B, Perez-Heras I, Nademi Z, Flood T, Cheetham T, Worth A, Qasim W, Amin R, Rao K, Chiesa R, Bredius RGM, Amrolia P, Abinun M, Hambleton S, Veys P, Gennery AR, Lankester A, Slatter M
J Clin Immunol 2021 Jan;41(1):171-184. Epub 2020 Nov 3 doi: 10.1007/s10875-020-00895-3. PMID: 33141919
Infectivity of GII.4 human norovirus does not differ between T-B-NK(+) severe combined immunodeficiency (SCID) and non-SCID gnotobiotic pigs, implicating the role of NK cells in mediation of human norovirus infection.
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
TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review.
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
Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.
Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK, Baker M, Ballow M, Bartoshesky LE, Bonilla FA, Brokopp C, Brooks E, Caggana M, Celestin J, Church JA, Comeau AM, Connelly JA, Cowan MJ, Cunningham-Rundles C, Dasu T, Dave N, De La Morena MT, Duffner U, Fong CT, Forbes L, Freedenberg D, Gelfand EW, Hale JE, Hanson IC, Hay BN, Hu D, Infante A, Johnson D, Kapoor N, Kay DM, Kohn DB, Lee R, Lehman H, Lin Z, Lorey F, Abdel-Mageed A, Manning A, McGhee S, Moore TB, Naides SJ, Notarangelo LD, Orange JS, Pai SY, Porteus M, Rodriguez R, Romberg N, Routes J, Ruehle M, Rubenstein A, Saavedra-Matiz CA, Scott G, Scott PM, Secord E, Seroogy C, Shearer WT, Siegel S, Silvers SK, Stiehm ER, Sugerman RW, Sullivan JL, Tanksley S, Tierce ML 4th, Verbsky J, Vogel B, Walker R, Walkovich K, Walter JE, Wasserman RL, Watson MS, Weinberg GA, Weiner LB, Wood H, Yates AB, Puck JM, Bonagura VR
JAMA 2014 Aug 20;312(7):729-38. doi: 10.1001/jama.2014.9132. PMID: 25138334Free PMC Article

Recent systematic reviews

Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency.
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
TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review.
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...