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Immunodeficiency due to Quantitative Defects

MedGen UID:
1781353
Concept ID:
C5447361
Disease or Syndrome

Definition

An indication that an immunodeficiency disorder is caused by a partial or complete loss of one or more of the hematopoietic cell lineages that are involved in host defense. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVImmunodeficiency due to Quantitative Defects

Professional guidelines

PubMed

Álvarez-Álvarez JA, Duque AG, Vásquez-Echeverri E, Sánchez IP, Hincapié SG, Gómez-Arias RD, Arango JCO, Franco JL, Trujillo-Vargas CM
Allergol Immunopathol (Madr) 2022;50(4):129-136. Epub 2022 Jul 1 doi: 10.15586/aei.v50i4.496. PMID: 35789412
Verbsky JW, Hintermeyer MK, Simpson PM, Feng M, Barbeau J, Rao N, Cool CD, Sosa-Lozano LA, Baruah D, Hammelev E, Busalacchi A, Rymaszewski A, Woodliff J, Chen S, Bausch-Jurken M, Routes JM
J Allergy Clin Immunol 2021 Feb;147(2):704-712.e17. Epub 2020 Aug 1 doi: 10.1016/j.jaci.2020.07.021. PMID: 32745555
Suri M, Harrison L, Van de Ven C, Cairo MS
Curr Opin Pediatr 2003 Apr;15(2):155-60. doi: 10.1097/00008480-200304000-00003. PMID: 12640271

Recent clinical studies

Etiology

Bolton C, Smillie CS, Pandey S, Elmentaite R, Wei G, Argmann C, Aschenbrenner D, James KR, McGovern DPB, Macchi M, Cho J, Shouval DS, Kammermeier J, Koletzko S, Bagalopal K, Capitani M, Cavounidis A, Pires E, Weidinger C, McCullagh J, Arkwright PD, Haller W, Siegmund B, Peters L, Jostins L, Travis SPL, Anderson CA, Snapper S, Klein C, Schadt E, Zilbauer M, Xavier R, Teichmann S, Muise AM, Regev A, Uhlig HH
Gastroenterology 2022 Mar;162(3):859-876. Epub 2021 Nov 13 doi: 10.1053/j.gastro.2021.11.014. PMID: 34780721
Shimizu R, Yamamoto M
IUBMB Life 2020 Jan;72(1):142-150. Epub 2019 Nov 1 doi: 10.1002/iub.2188. PMID: 31675473
Kelesidis T, Currier JS
Endocrinol Metab Clin North Am 2014 Sep;43(3):665-84. doi: 10.1016/j.ecl.2014.06.003. PMID: 25169560Free PMC Article
Calvo M, Martinez E
Curr Opin HIV AIDS 2014 Jul;9(4):332-9. doi: 10.1097/COH.0000000000000075. PMID: 24824886
Pyrgos V, Shoham S, Roilides E, Walsh TJ
Paediatr Respir Rev 2009 Dec;10(4):192-8. Epub 2009 Sep 25 doi: 10.1016/j.prrv.2009.06.010. PMID: 19879509

Diagnosis

Zhang X, Chen J
Curr HIV/AIDS Rep 2023 Apr;20(2):29-41. Epub 2023 Apr 1 doi: 10.1007/s11904-023-00653-1. PMID: 37004676
Grumach AS, Veronez CL, Csuka D, Farkas H
Front Immunol 2021;12:785736. Epub 2021 Dec 8 doi: 10.3389/fimmu.2021.785736. PMID: 34956216Free PMC Article
Macedo-da-Silva J, Marinho CRF, Palmisano G, Rosa-Fernandes L
Genes (Basel) 2020 Aug 5;11(8) doi: 10.3390/genes11080894. PMID: 32764347Free PMC Article
Chang L, Shukla DK
Handb Clin Neurol 2018;152:229-264. doi: 10.1016/B978-0-444-63849-6.00018-9. PMID: 29604980
Bures J, Cyrany J, Kohoutova D, Förstl M, Rejchrt S, Kvetina J, Vorisek V, Kopacova M
World J Gastroenterol 2010 Jun 28;16(24):2978-90. doi: 10.3748/wjg.v16.i24.2978. PMID: 20572300Free PMC Article

Therapy

Guo Y, Zhang H, Lai H, Wang H, Chong-Neto HJ, Valle SOR, Zhu R
Orphanet J Rare Dis 2022 Nov 2;17(1):399. doi: 10.1186/s13023-022-02536-x. PMID: 36324138Free PMC Article
Horsburgh BA, Palmer S
Adv Exp Med Biol 2018;1075:265-284. doi: 10.1007/978-981-13-0484-2_11. PMID: 30030797
Berger M, Geng B, Cameron DW, Murphy LM, Schulman ES
Respir Med 2017 Nov;132:181-188. Epub 2017 Oct 21 doi: 10.1016/j.rmed.2017.10.016. PMID: 29229095
Nelson AM, Manabe YC, Lucas SB
Semin Diagn Pathol 2017 Jul;34(4):340-351. Epub 2017 Apr 26 doi: 10.1053/j.semdp.2017.04.010. PMID: 28552210
Pyrgos V, Shoham S, Roilides E, Walsh TJ
Paediatr Respir Rev 2009 Dec;10(4):192-8. Epub 2009 Sep 25 doi: 10.1016/j.prrv.2009.06.010. PMID: 19879509

Prognosis

Tumpach C, Rhodes A, Kim Y, Ong J, Liu H, Chibo D, Druce J, Williamson D, Hoh R, Deeks SG, Yukl SA, Roche M, Lewin SR, Telwatte S
Viruses 2023 Jul 22;15(7) doi: 10.3390/v15071606. PMID: 37515292Free PMC Article
Macedo-da-Silva J, Marinho CRF, Palmisano G, Rosa-Fernandes L
Genes (Basel) 2020 Aug 5;11(8) doi: 10.3390/genes11080894. PMID: 32764347Free PMC Article
Shimizu R, Yamamoto M
IUBMB Life 2020 Jan;72(1):142-150. Epub 2019 Nov 1 doi: 10.1002/iub.2188. PMID: 31675473
Kuhns DB
Methods Mol Biol 2019;1982:543-571. doi: 10.1007/978-1-4939-9424-3_33. PMID: 31172495
Bures J, Cyrany J, Kohoutova D, Förstl M, Rejchrt S, Kvetina J, Vorisek V, Kopacova M
World J Gastroenterol 2010 Jun 28;16(24):2978-90. doi: 10.3748/wjg.v16.i24.2978. PMID: 20572300Free PMC Article

Clinical prediction guides

Tumpach C, Rhodes A, Kim Y, Ong J, Liu H, Chibo D, Druce J, Williamson D, Hoh R, Deeks SG, Yukl SA, Roche M, Lewin SR, Telwatte S
Viruses 2023 Jul 22;15(7) doi: 10.3390/v15071606. PMID: 37515292Free PMC Article
Guo Y, Zhang H, Lai H, Wang H, Chong-Neto HJ, Valle SOR, Zhu R
Orphanet J Rare Dis 2022 Nov 2;17(1):399. doi: 10.1186/s13023-022-02536-x. PMID: 36324138Free PMC Article
Macedo-da-Silva J, Marinho CRF, Palmisano G, Rosa-Fernandes L
Genes (Basel) 2020 Aug 5;11(8) doi: 10.3390/genes11080894. PMID: 32764347Free PMC Article
Shimizu R, Yamamoto M
IUBMB Life 2020 Jan;72(1):142-150. Epub 2019 Nov 1 doi: 10.1002/iub.2188. PMID: 31675473
Huerta L, López-Balderas N, Rivera-Toledo E, Sandoval G, Gómez-Icazbalceta G, Villarreal C, Lamoyi E, Larralde C
ScientificWorldJournal 2009 Aug 11;9:746-63. doi: 10.1100/tsw.2009.90. PMID: 19705036Free PMC Article

Recent systematic reviews

Kuang HY, Li Q, Du HA, Chen M, Yin YH
Am J Cardiovasc Drugs 2021 Mar;21(2):181-191. doi: 10.1007/s40256-020-00426-w. PMID: 32918210
Lee A, Arasaratnam M, Chan DLH, Khasraw M, Howell VM, Wheeler H
Cochrane Database Syst Rev 2020 May 12;5(5):CD013238. doi: 10.1002/14651858.CD013238.pub2. PMID: 32395825Free PMC Article
Lekoane KMB, Kuupiel D, Mashamba-Thompson TP, Ginindza TG
Syst Rev 2020 Apr 22;9(1):88. doi: 10.1186/s13643-020-01354-1. PMID: 32321580Free PMC Article
Patel P, Rose CE, Collins PY, Nuche-Berenguer B, Sahasrabuddhe VV, Peprah E, Vorkoper S, Pastakia SD, Rausch D, Levitt NS; NIH HIV/NCD Project Disease Condition Technical Operating Group
AIDS 2018 Jul 1;32 Suppl 1(Suppl 1):S5-S20. doi: 10.1097/QAD.0000000000001888. PMID: 29952786Free PMC Article
Green ML
J Gen Intern Med 2002 Oct;17(10):797-810. doi: 10.1046/j.1525-1497.2002.20201.x. PMID: 12390557Free PMC Article

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