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Abnormal lymphocyte physiology

MedGen UID:
1627345
Concept ID:
C4531142
Cell or Molecular Dysfunction
HPO: HP:0031409

Definition

Any anomaly of lymphocyte function. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal lymphocyte physiology

Conditions with this feature

Immunodeficiency 51
MedGen UID:
934770
Concept ID:
C4310803
Disease or Syndrome
Immunodeficiency-51 (IMD51) is an autosomal recessive primary immune deficiency that is usually characterized by onset of chronic mucocutaneous candidiasis in the first years of life. Most patients also show recurrent Staphylococcal skin infections, and may show increased susceptibility to chronic bacterial respiratory infections. Patient cells show a lack of cellular responses to stimulation with certain IL17 isoforms, including IL17A (603149), IL17F (606496), IL17A/F, and IL17E (IL25; 605658) (summary by Levy et al., 2016).

Professional guidelines

PubMed

Tefferi A, Vannucchi AM, Barbui T
Am J Hematol 2024 Apr;99(4):697-718. Epub 2024 Jan 25 doi: 10.1002/ajh.27216. PMID: 38269572
Miehlke S, Verhaegh B, Tontini GE, Madisch A, Langner C, Münch A
Lancet Gastroenterol Hepatol 2019 Apr;4(4):305-314. doi: 10.1016/S2468-1253(19)30048-2. PMID: 30860066
Thenappan T, Ormiston ML, Ryan JJ, Archer SL
BMJ 2018 Mar 14;360:j5492. doi: 10.1136/bmj.j5492. PMID: 29540357Free PMC Article

Recent clinical studies

Etiology

Cassioli C, Baldari CT
Cells 2019 Jul 29;8(8) doi: 10.3390/cells8080789. PMID: 31362462Free PMC Article
Moorman AV
Blood Rev 2012 May;26(3):123-35. Epub 2012 Mar 20 doi: 10.1016/j.blre.2012.01.001. PMID: 22436535
Warlick ED, Miller JS
Leuk Lymphoma 2011 Nov;52(11):2045-9. Epub 2011 Jun 12 doi: 10.3109/10428194.2011.584002. PMID: 21663505
Appay V, Sauce D, Prelog M
Aging (Albany NY) 2010 Mar 20;2(2):78-81. doi: 10.18632/aging.100122. PMID: 20354268Free PMC Article
Evans HJ, Fletcher J, Torrance M, Hargreave TB
Lancet 1981 Mar 21;1(8221):627-9. doi: 10.1016/s0140-6736(81)91550-6. PMID: 6110860

Diagnosis

Tomomasa D, Sato T, Hasegawa T, Morio T, Kanegane H
Pediatr Int 2022 Jan;64(1):e15080. doi: 10.1111/ped.15080. PMID: 35278261
Pittman ME
Am J Surg Pathol 2022 Jan 1;46(1):e55-e63. doi: 10.1097/PAS.0000000000001667. PMID: 33481383
Wong MT, Schölvinck EH, Lambeck AJ, van Ravenswaaij-Arts CM
Eur J Hum Genet 2015 Nov;23(11):1451-9. Epub 2015 Feb 18 doi: 10.1038/ejhg.2015.7. PMID: 25689927Free PMC Article
Jackson BK
Dig Dis 1995 Sep-Oct;13(5):301-11. doi: 10.1159/000171510. PMID: 8542665
Seltzer MH, Bastidas JA, Cooper DM, Engler P, Slocum B, Fletcher HS
JPEN J Parenter Enteral Nutr 1979 May-Jun;3(3):157-9. doi: 10.1177/014860717900300309. PMID: 573345

Therapy

Liu S, Galat V, Galat Y, Lee YKA, Wainwright D, Wu J
J Hematol Oncol 2021 Jan 6;14(1):7. doi: 10.1186/s13045-020-01014-w. PMID: 33407739Free PMC Article
Wang J, Xu Y, Chen Z, Liang J, Lin Z, Liang H, Xu Y, Wu Q, Guo X, Nie J, Lu B, Huang B, Xian H, Wang X, Wu Q, Zeng J, Chai C, Zhang M, Lin Y, Zhang L, Zhao S, Tong Y, Zeng L, Gu X, Chen ZG, Yi S, Zhang T, Delfouneso D, Zhang Y, Nutt SL, Lew AM, Lu L, Bai F, Xia H, Wen Z, Zhang Y
Cell 2020 Dec 23;183(7):1867-1883.e26. Epub 2020 Nov 27 doi: 10.1016/j.cell.2020.10.048. PMID: 33248023
Dispenzieri A, Kourelis T, Buadi F
Hematol Oncol Clin North Am 2018 Feb;32(1):119-139. doi: 10.1016/j.hoc.2017.09.010. PMID: 29157614
Lakshminarayanan B, Davenport M
J Autoimmun 2016 Sep;73:1-9. Epub 2016 Jun 23 doi: 10.1016/j.jaut.2016.06.005. PMID: 27346637
Wardemann H, Nussenzweig MC
Adv Immunol 2007;95:83-110. doi: 10.1016/S0065-2776(07)95003-8. PMID: 17869611

Prognosis

Pittman ME
Am J Surg Pathol 2022 Jan 1;46(1):e55-e63. doi: 10.1097/PAS.0000000000001667. PMID: 33481383
Lakshminarayanan B, Davenport M
J Autoimmun 2016 Sep;73:1-9. Epub 2016 Jun 23 doi: 10.1016/j.jaut.2016.06.005. PMID: 27346637
Izumi K, Krantz ID
Am J Med Genet C Semin Med Genet 2014 Dec;166C(4):406-13. Epub 2014 Nov 25 doi: 10.1002/ajmg.c.31423. PMID: 25425112
Park S, Ko YH
Int J Hematol 2014 Mar;99(3):227-39. Epub 2014 Jan 31 doi: 10.1007/s12185-014-1520-3. PMID: 24481942
Rodriguez-Pena R, Antunez C, Martin E, Blanca-Lopez N, Mayorga C, Torres MJ
Expert Opin Drug Saf 2006 Jan;5(1):31-48. doi: 10.1517/14740338.5.1.31. PMID: 16370954

Clinical prediction guides

Pittman ME
Am J Surg Pathol 2022 Jan 1;46(1):e55-e63. doi: 10.1097/PAS.0000000000001667. PMID: 33481383
Cassioli C, Baldari CT
Cells 2019 Jul 29;8(8) doi: 10.3390/cells8080789. PMID: 31362462Free PMC Article
Muraji T
Chimerism 2014 Jan-Mar;5(1):1-5. Epub 2014 Mar 26 doi: 10.4161/chim.28576. PMID: 24670921Free PMC Article
Moir S, Fauci AS
J Allergy Clin Immunol 2008 Jul;122(1):12-9; quiz 20-1. Epub 2008 Jun 10 doi: 10.1016/j.jaci.2008.04.034. PMID: 18547629Free PMC Article
Tsubata T
Autoimmunity 2005 Aug;38(5):331-7. doi: 10.1080/08916930500123959. PMID: 16240466

Recent systematic reviews

Frye RE, Rincon N, McCarty PJ, Brister D, Scheck AC, Rossignol DA
Neurobiol Dis 2024 Jul;197:106520. Epub 2024 May 3 doi: 10.1016/j.nbd.2024.106520. PMID: 38703861
Zhao J, An Q, Zhu X, Yang B, Gao X, Niu Y, Zhang L, Xu K, Ma D
Stem Cell Res Ther 2022 Jun 3;13(1):230. doi: 10.1186/s13287-022-02912-1. PMID: 35659085Free PMC Article
Grywalska E, Zaborek M, Łyczba J, Hrynkiewicz R, Bębnowska D, Becht R, Sosnowska-Pasiarska B, Smok-Kalwat J, Pasiarski M, Góźdź S, Roliński J, Niedźwiedzka-Rystwej P
Cells 2020 Nov 2;9(11) doi: 10.3390/cells9112398. PMID: 33147729Free PMC Article
Terpos E, Ntanasis-Stathopoulos I, Elalamy I, Kastritis E, Sergentanis TN, Politou M, Psaltopoulou T, Gerotziafas G, Dimopoulos MA
Am J Hematol 2020 Jul;95(7):834-847. Epub 2020 May 23 doi: 10.1002/ajh.25829. PMID: 32282949Free PMC Article
Aalaei-Andabili SH, Rezaei N
Int Rev Immunol 2016;35(1):57-66. Epub 2015 Sep 1 doi: 10.3109/08830185.2015.1077828. PMID: 26327579

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