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Lack of T cell function

MedGen UID:
336597
Concept ID:
C1849426
Finding
Synonym: Absent cellular immunity
 
HPO: HP:0005354

Definition

Complete inability of T cells to perform their functions in cell-mediated immunity. [from HPO]

Term Hierarchy

Conditions with this feature

Reticular dysgenesis
MedGen UID:
124417
Concept ID:
C0272167
Disease or Syndrome
Reticular dysgenesis, the most severe form of inborn severe combined immunodeficiency (SCID), is characterized by absence of granulocytes and almost complete deficiency of lymphocytes in peripheral blood, hypoplasia of the thymus and secondary lymphoid organs, and lack of innate and adaptive humoral and cellular immune functions, leading to fatal septicemia within days after birth (summary by Pannicke et al., 2009).

Professional guidelines

PubMed

Ji T, Li H
Front Immunol 2023;14:1149203. Epub 2023 Jun 12 doi: 10.3389/fimmu.2023.1149203. PMID: 37377958Free PMC Article
Gottschlich A, Thomas M, Grünmeier R, Lesch S, Rohrbacher L, Igl V, Briukhovetska D, Benmebarek MR, Vick B, Dede S, Müller K, Xu T, Dhoqina D, Märkl F, Robinson S, Sendelhofert A, Schulz H, Umut Ö, Kavaka V, Tsiverioti CA, Carlini E, Nandi S, Strzalkowski T, Lorenzini T, Stock S, Müller PJ, Dörr J, Seifert M, Cadilha BL, Brabenec R, Röder N, Rataj F, Nüesch M, Modemann F, Wellbrock J, Fiedler W, Kellner C, Beltrán E, Herold T, Paquet D, Jeremias I, von Baumgarten L, Endres S, Subklewe M, Marr C, Kobold S
Nat Biotechnol 2023 Nov;41(11):1618-1632. Epub 2023 Mar 13 doi: 10.1038/s41587-023-01684-0. PMID: 36914885Free PMC Article
Thompson PA, Siddiqi T
Hematology Am Soc Hematol Educ Program 2022 Dec 9;2022(1):329-336. doi: 10.1182/hematology.2022000345. PMID: 36485138Free PMC Article

Recent clinical studies

Etiology

Zheng L, Qin S, Si W, Wang A, Xing B, Gao R, Ren X, Wang L, Wu X, Zhang J, Wu N, Zhang N, Zheng H, Ouyang H, Chen K, Bu Z, Hu X, Ji J, Zhang Z
Science 2021 Dec 17;374(6574):abe6474. doi: 10.1126/science.abe6474. PMID: 34914499
Henrick BM, Rodriguez L, Lakshmikanth T, Pou C, Henckel E, Arzoomand A, Olin A, Wang J, Mikes J, Tan Z, Chen Y, Ehrlich AM, Bernhardsson AK, Mugabo CH, Ambrosiani Y, Gustafsson A, Chew S, Brown HK, Prambs J, Bohlin K, Mitchell RD, Underwood MA, Smilowitz JT, German JB, Frese SA, Brodin P
Cell 2021 Jul 22;184(15):3884-3898.e11. Epub 2021 Jun 17 doi: 10.1016/j.cell.2021.05.030. PMID: 34143954
Mittelbrunn M, Kroemer G
Nat Immunol 2021 Jun;22(6):687-698. Epub 2021 May 13 doi: 10.1038/s41590-021-00927-z. PMID: 33986548
Fan KQ, Li YY, Wang HL, Mao XT, Guo JX, Wang F, Huang LJ, Li YN, Ma XY, Gao ZJ, Chen W, Qian DD, Xue WJ, Cao Q, Zhang L, Shen L, Zhang L, Tong C, Zhong JY, Lu W, Lu L, Ren KM, Zhong G, Wang Y, Tang M, Feng XH, Chai RJ, Jin J
Cell 2019 Oct 31;179(4):864-879.e19. doi: 10.1016/j.cell.2019.10.001. PMID: 31675497
Blank CU, Haining WN, Held W, Hogan PG, Kallies A, Lugli E, Lynn RC, Philip M, Rao A, Restifo NP, Schietinger A, Schumacher TN, Schwartzberg PL, Sharpe AH, Speiser DE, Wherry EJ, Youngblood BA, Zehn D
Nat Rev Immunol 2019 Nov;19(11):665-674. Epub 2019 Sep 30 doi: 10.1038/s41577-019-0221-9. PMID: 31570879Free PMC Article

Diagnosis

Lai X, Zheng X, Mathew JM, Gallon L, Leventhal JR, Zhang ZJ
Front Immunol 2021;12:661643. Epub 2021 May 20 doi: 10.3389/fimmu.2021.661643. PMID: 34093552Free PMC Article
Horna P, Shi M, Olteanu H, Johansson U
Int J Mol Sci 2021 Feb 12;22(4) doi: 10.3390/ijms22041817. PMID: 33673033Free PMC Article
Jan M, Scarfò I, Larson RC, Walker A, Schmidts A, Guirguis AA, Gasser JA, Słabicki M, Bouffard AA, Castano AP, Kann MC, Cabral ML, Tepper A, Grinshpun DE, Sperling AS, Kyung T, Sievers QL, Birnbaum ME, Maus MV, Ebert BL
Sci Transl Med 2021 Jan 6;13(575) doi: 10.1126/scitranslmed.abb6295. PMID: 33408186Free PMC Article
Qu J, Mei Q, Chen L, Zhou J
Cancer Immunol Immunother 2021 Mar;70(3):619-631. Epub 2020 Oct 6 doi: 10.1007/s00262-020-02735-0. PMID: 33025047Free PMC Article
Kawakami Y, Ohta S, Sayem MA, Tsukamoto N, Yaguchi T
Int J Clin Oncol 2020 May;25(5):810-817. Epub 2020 Jan 9 doi: 10.1007/s10147-019-01611-x. PMID: 31919690

Therapy

Lai X, Zheng X, Mathew JM, Gallon L, Leventhal JR, Zhang ZJ
Front Immunol 2021;12:661643. Epub 2021 May 20 doi: 10.3389/fimmu.2021.661643. PMID: 34093552Free PMC Article
Moorman CD, Sohn SJ, Phee H
Front Immunol 2021;12:657768. Epub 2021 Mar 29 doi: 10.3389/fimmu.2021.657768. PMID: 33854514Free PMC Article
Wu TD, Madireddi S, de Almeida PE, Banchereau R, Chen YJ, Chitre AS, Chiang EY, Iftikhar H, O'Gorman WE, Au-Yeung A, Takahashi C, Goldstein LD, Poon C, Keerthivasan S, de Almeida Nagata DE, Du X, Lee HM, Banta KL, Mariathasan S, Das Thakur M, Huseni MA, Ballinger M, Estay I, Caplazi P, Modrusan Z, Delamarre L, Mellman I, Bourgon R, Grogan JL
Nature 2020 Mar;579(7798):274-278. Epub 2020 Feb 26 doi: 10.1038/s41586-020-2056-8. PMID: 32103181
Wolf Y, Anderson AC, Kuchroo VK
Nat Rev Immunol 2020 Mar;20(3):173-185. Epub 2019 Nov 1 doi: 10.1038/s41577-019-0224-6. PMID: 31676858Free PMC Article
Maciocia PM, Wawrzyniecka PA, Philip B, Ricciardelli I, Akarca AU, Onuoha SC, Legut M, Cole DK, Sewell AK, Gritti G, Somja J, Piris MA, Peggs KS, Linch DC, Marafioti T, Pule MA
Nat Med 2017 Dec;23(12):1416-1423. Epub 2017 Nov 13 doi: 10.1038/nm.4444. PMID: 29131157

Prognosis

Vella G, Hua Y, Bergers G
Cancer Cell 2023 Mar 13;41(3):527-545. Epub 2023 Feb 23 doi: 10.1016/j.ccell.2023.02.002. PMID: 36827979
Wu TD, Madireddi S, de Almeida PE, Banchereau R, Chen YJ, Chitre AS, Chiang EY, Iftikhar H, O'Gorman WE, Au-Yeung A, Takahashi C, Goldstein LD, Poon C, Keerthivasan S, de Almeida Nagata DE, Du X, Lee HM, Banta KL, Mariathasan S, Das Thakur M, Huseni MA, Ballinger M, Estay I, Caplazi P, Modrusan Z, Delamarre L, Mellman I, Bourgon R, Grogan JL
Nature 2020 Mar;579(7798):274-278. Epub 2020 Feb 26 doi: 10.1038/s41586-020-2056-8. PMID: 32103181
Song M, Sandoval TA, Chae CS, Chopra S, Tan C, Rutkowski MR, Raundhal M, Chaurio RA, Payne KK, Konrad C, Bettigole SE, Shin HR, Crowley MJP, Cerliani JP, Kossenkov AV, Motorykin I, Zhang S, Manfredi G, Zamarin D, Holcomb K, Rodriguez PC, Rabinovich GA, Conejo-Garcia JR, Glimcher LH, Cubillos-Ruiz JR
Nature 2018 Oct;562(7727):423-428. Epub 2018 Oct 10 doi: 10.1038/s41586-018-0597-x. PMID: 30305738Free PMC Article
Tauriello DVF, Palomo-Ponce S, Stork D, Berenguer-Llergo A, Badia-Ramentol J, Iglesias M, Sevillano M, Ibiza S, Cañellas A, Hernando-Momblona X, Byrom D, Matarin JA, Calon A, Rivas EI, Nebreda AR, Riera A, Attolini CS, Batlle E
Nature 2018 Feb 22;554(7693):538-543. Epub 2018 Feb 14 doi: 10.1038/nature25492. PMID: 29443964
Maciocia PM, Wawrzyniecka PA, Philip B, Ricciardelli I, Akarca AU, Onuoha SC, Legut M, Cole DK, Sewell AK, Gritti G, Somja J, Piris MA, Peggs KS, Linch DC, Marafioti T, Pule MA
Nat Med 2017 Dec;23(12):1416-1423. Epub 2017 Nov 13 doi: 10.1038/nm.4444. PMID: 29131157

Clinical prediction guides

Ortiz-Muñoz G, Brown M, Carbone CB, Pechuan-Jorge X, Rouilly V, Lindberg H, Ritter AT, Raghupathi G, Sun Q, Nicotra T, Mantri SR, Yang A, Doerr J, Nagarkar D, Darmanis S, Haley B, Mariathasan S, Wang Y, Gomez-Roca C, de Andrea CE, Spigel D, Wu T, Delamarre L, Schöneberg J, Modrusan Z, Price R, Turley SJ, Mellman I, Moussion C
Nature 2023 Jun;618(7966):827-833. Epub 2023 May 31 doi: 10.1038/s41586-023-06132-2. PMID: 37258670Free PMC Article
Rancan C, Arias-Badia M, Dogra P, Chen B, Aran D, Yang H, Luong D, Ilano A, Li J, Chang H, Kwek SS, Zhang L, Lanier LL, Meng MV, Farber DL, Fong L
Nat Immunol 2023 Apr;24(4):612-624. Epub 2023 Mar 16 doi: 10.1038/s41590-023-01448-7. PMID: 36928415Free PMC Article
Vella G, Hua Y, Bergers G
Cancer Cell 2023 Mar 13;41(3):527-545. Epub 2023 Feb 23 doi: 10.1016/j.ccell.2023.02.002. PMID: 36827979
Wu TD, Madireddi S, de Almeida PE, Banchereau R, Chen YJ, Chitre AS, Chiang EY, Iftikhar H, O'Gorman WE, Au-Yeung A, Takahashi C, Goldstein LD, Poon C, Keerthivasan S, de Almeida Nagata DE, Du X, Lee HM, Banta KL, Mariathasan S, Das Thakur M, Huseni MA, Ballinger M, Estay I, Caplazi P, Modrusan Z, Delamarre L, Mellman I, Bourgon R, Grogan JL
Nature 2020 Mar;579(7798):274-278. Epub 2020 Feb 26 doi: 10.1038/s41586-020-2056-8. PMID: 32103181
Brehm MA, Kenney LL, Wiles MV, Low BE, Tisch RM, Burzenski L, Mueller C, Greiner DL, Shultz LD
FASEB J 2019 Mar;33(3):3137-3151. Epub 2018 Nov 1 doi: 10.1096/fj.201800636R. PMID: 30383447Free PMC Article

Recent systematic reviews

Shahzad M, Nguyen A, Hussain A, Ammad-Ud-Din M, Faisal MS, Tariq E, Ali F, Butt A, Anwar I, Chaudhary SG, Lutfi F, Ahmed N, Singh AK, Hematti P, McGuirk JP, Mushtaq MU
Front Immunol 2023;14:1152457. Epub 2023 Apr 24 doi: 10.3389/fimmu.2023.1152457. PMID: 37168849Free PMC Article
Savinelli S, Wrigley Kelly NE, Feeney ER, O'Shea DB, Hogan AE, Overton ET, Landay AL, Mallon PW
AIDS 2022 Sep 1;36(11):1477-1491. Epub 2022 Jun 21 doi: 10.1097/QAD.0000000000003281. PMID: 35979828
Shrotri M, van Schalkwyk MCI, Post N, Eddy D, Huntley C, Leeman D, Rigby S, Williams SV, Bermingham WH, Kellam P, Maher J, Shields AM, Amirthalingam G, Peacock SJ, Ismail SA
PLoS One 2021;16(1):e0245532. Epub 2021 Jan 25 doi: 10.1371/journal.pone.0245532. PMID: 33493185Free PMC Article
Oliveira PD, de Carvalho RF, Bittencourt AL
Int J STD AIDS 2017 Mar;28(3):217-228. Epub 2016 Dec 14 doi: 10.1177/0956462416684461. PMID: 28178905
Kruijsen-Jaarsma M, Révész D, Bierings MB, Buffart LM, Takken T
Exerc Immunol Rev 2013;19:120-43. PMID: 23977724

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