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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

Wang JL, Cao QY, Xin ZJ, Liu SS, Xu M, Wang TG, Lu JL, Chen YH, Wang SY, Zhao ZY, Xu Y, Ning G, Wang WQ, Bi YF, Li M
Biomed Environ Sci 2022 Jan 20;35(1):4-12. doi: 10.3967/bes2022.002. PMID: 35078557
Akiyama T, Yamamoto T
Front Immunol 2021;12:715675. Epub 2021 Jul 19 doi: 10.3389/fimmu.2021.715675. PMID: 34349771Free PMC Article
Cassioli C, Baldari CT
Cells 2019 Jul 29;8(8) doi: 10.3390/cells8080789. PMID: 31362462Free PMC Article
Azizi G, Hafezi N, Mohammadi H, Yazdani R, Alinia T, Tavakol M, Aghamohammadi A, Mirshafiey A
Cell Immunol 2017 May;315:11-17. Epub 2016 Dec 29 doi: 10.1016/j.cellimm.2016.12.007. PMID: 28284485
Dishotsky NI, Loughman WD, Mogar RE, Lipscomb WR
Science 1971 Apr 30;172(3982):431-40. doi: 10.1126/science.172.3982.431. PMID: 4994465

Diagnosis

Pittman ME
Am J Surg Pathol 2022 Jan 1;46(1):e55-e63. doi: 10.1097/PAS.0000000000001667. PMID: 33481383
Starr SP
FP Essent 2016 Nov;450:35-53. PMID: 27869441
Faitelson Y, Grunebaum E
Clin Immunol 2014 Nov;155(1):118-125. Epub 2014 Sep 18 doi: 10.1016/j.clim.2014.09.008. PMID: 25241079
Young NS
Ann Intern Med 2002 Apr 2;136(7):534-46. doi: 10.7326/0003-4819-136-7-200204020-00011. PMID: 11926789
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

Wu B, Zhong C, Lang Q, Liang Z, Zhang Y, Zhao X, Yu Y, Zhang H, Xu F, Tian Y
J Exp Clin Cancer Res 2021 Aug 25;40(1):267. doi: 10.1186/s13046-021-02068-5. PMID: 34433460Free PMC Article
Cencioni MT, Mattoscio M, Magliozzi R, Bar-Or A, Muraro PA
Nat Rev Neurol 2021 Jul;17(7):399-414. Epub 2021 Jun 1 doi: 10.1038/s41582-021-00498-5. PMID: 34075251
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
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

Prognosis

Jin W, Zheng Y, Zhu P
Autoimmun Rev 2022 Nov;21(11):103185. Epub 2022 Aug 27 doi: 10.1016/j.autrev.2022.103185. PMID: 36031049
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
Plander M, Kalman B
Autoimmunity 2016 Aug;49(5):285-97. Epub 2016 May 20 doi: 10.1080/08916934.2016.1183658. PMID: 27207228
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

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
Wang J, Zhu QW, Cheng XY, Liu JY, Zhang LL, Tao YM, Cui YB, Wei Y
J Reprod Immunol 2019 Apr;132:29-34. Epub 2019 Mar 6 doi: 10.1016/j.jri.2019.02.001. PMID: 30861482
Taher TE, Muhammad HA, Bariller E, Flores-Borja F, Renaudineau Y, Isenberg DA, Mageed RA
Int Rev Immunol 2013 Aug;32(4):428-44. Epub 2013 Jun 14 doi: 10.3109/08830185.2013.788648. PMID: 23768155
Calder AE, Hince MN, Dudakov JA, Chidgey AP, Boyd RL
Neuroimmunomodulation 2011;18(5):281-9. Epub 2011 Sep 22 doi: 10.1159/000329496. PMID: 21952680

Recent systematic reviews

Wei XY, Tan YQ, Zhou G
Inflamm Res 2024 May;73(5):867-876. Epub 2024 Apr 2 doi: 10.1007/s00011-024-01870-z. PMID: 38563967
Arteaga-Henríquez G, Lugo-Marín J, Gisbert L, Setién-Ramos I, Martínez-Gallo M, Pujol-Borrell R, Ramos-Quiroga JA
Int J Mol Sci 2022 Nov 18;23(22) doi: 10.3390/ijms232214329. PMID: 36430805Free PMC Article
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
Kazemi E, Soldoozi Nejat R, Ashkan F, Sheibani H
Ann Clin Microbiol Antimicrob 2021 Mar 16;20(1):17. doi: 10.1186/s12941-021-00420-3. PMID: 33726761Free 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

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