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Items: 1 to 20 of 106

1.

Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency.

Turul T, Tezcan I, Artac H, de Bruin-Versteeg S, Barendregt BH, Reisli I, Sanal O, van Dongen JJ, van der Burg M.

Eur J Pediatr. 2009 Jan;168(1):87-93. doi: 10.1007/s00431-008-0718-x. Epub 2008 May 29.

PMID:
18509675
2.

Defining combined immunodeficiency.

Roifman CM, Somech R, Kavadas F, Pires L, Nahum A, Dalal I, Grunebaum E.

J Allergy Clin Immunol. 2012 Jul;130(1):177-83. doi: 10.1016/j.jaci.2012.04.029. Epub 2012 Jun 2.

PMID:
22664165
3.

Identification of a novel mutation in ZAP70 and prenatal diagnosis in a Turkish family with severe combined immunodeficiency disorder.

Karaca E, Karakoc-Aydiner E, Bayrak OF, Keles S, Sevli S, Barlan IB, Yuksel A, Chatila TA, Ozen M.

Gene. 2013 Jan 10;512(2):189-93. doi: 10.1016/j.gene.2012.10.062. Epub 2012 Nov 2.

PMID:
23124046
4.

SYK expression endows human ZAP70-deficient CD8 T cells with residual TCR signaling.

Hauck F, Blumenthal B, Fuchs S, Lenoir C, Martin E, Speckmann C, Vraetz T, Mannhardt-Laakmann W, Lambert N, Gil M, Borte S, Audrain M, Schwarz K, Lim A, Schamel WW, Fischer A, Ehl S, Rensing-Ehl A, Picard C, Latour S.

Clin Immunol. 2015 Dec;161(2):103-9. doi: 10.1016/j.clim.2015.07.002. Epub 2015 Jul 14.

PMID:
26187144
5.

Hypomorphic mutation of ZAP70 in human results in a late onset immunodeficiency and no autoimmunity.

Picard C, Dogniaux S, Chemin K, Maciorowski Z, Lim A, Mazerolles F, Rieux-Laucat F, Stolzenberg MC, Debre M, Magny JP, Le Deist F, Fischer A, Hivroz C.

Eur J Immunol. 2009 Jul;39(7):1966-76. doi: 10.1002/eji.200939385.

6.

Characterization of ζ-associated protein, 70 kd (ZAP70)-deficient human lymphocytes.

Roifman CM, Dadi H, Somech R, Nahum A, Sharfe N.

J Allergy Clin Immunol. 2010 Dec;126(6):1226-33.e1. doi: 10.1016/j.jaci.2010.07.029.

PMID:
20864151
7.

Selection transduction defect (STD) due to Zap-70 kinase deficiency.

Roifman CM.

Immunodeficiency. 1995;5(3):193-211.

PMID:
7749439
8.

Specific immunoglobulin E responses in ZAP-70-deficient patients are mediated by Syk-dependent T-cell receptor signalling.

Toyabe S, Watanabe A, Harada W, Karasawa T, Uchiyama M.

Immunology. 2001 Jun;103(2):164-71.

9.

A novel Zap70 mutation with reduced protein stability demonstrates the rate-limiting threshold for Zap70 in T-cell receptor signalling.

Cauwe B, Tian L, Franckaert D, Pierson W, Staats KA, Schlenner SM, Liston A.

Immunology. 2014 Mar;141(3):377-87. doi: 10.1111/imm.12199.

10.

Differential biological role of CD3 chains revealed by human immunodeficiencies.

Recio MJ, Moreno-Pelayo MA, Kiliç SS, Guardo AC, Sanal O, Allende LM, Pérez-Flores V, Mencía A, Modamio-Høybjør S, Seoane E, Regueiro JR.

J Immunol. 2007 Feb 15;178(4):2556-64.

11.

Absence of ZAP-70 prevents signaling through the antigen receptor on peripheral blood T cells but not on thymocytes.

Gelfand EW, Weinberg K, Mazer BD, Kadlecek TA, Weiss A.

J Exp Med. 1995 Oct 1;182(4):1057-65.

12.

Limitation of TREC-based newborn screening for ZAP70 Severe Combined Immunodeficiency.

Grazioli S, Bennett M, Hildebrand KJ, Vallance H, Turvey SE, Junker AK.

Clin Immunol. 2014 Jul;153(1):209-10. doi: 10.1016/j.clim.2014.04.015. Epub 2014 May 4. No abstract available.

PMID:
24797280
13.
14.

ZAP-70 and defects of T-cell receptor signaling.

Elder ME.

Semin Hematol. 1998 Oct;35(4):310-20. Review.

PMID:
9801260
15.

Reconstitution of T cell receptor signaling in ZAP-70-deficient cells by retroviral transduction of the ZAP-70 gene.

Taylor N, Bacon KB, Smith S, Jahn T, Kadlecek TA, Uribe L, Kohn DB, Gelfand EW, Weiss A, Weinberg K.

J Exp Med. 1996 Nov 1;184(5):2031-6.

16.

Zap70 is essential for long-term survival of naive CD8 T cells.

Schim van der Loeff I, Hsu LY, Saini M, Weiss A, Seddon B.

J Immunol. 2014 Sep 15;193(6):2873-80. doi: 10.4049/jimmunol.1400858. Epub 2014 Aug 4.

17.

Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development.

Yu X, Almeida JR, Darko S, van der Burg M, DeRavin SS, Malech H, Gennery A, Chinn I, Markert ML, Douek DC, Milner JD.

J Allergy Clin Immunol. 2014 Apr;133(4):1109-15. doi: 10.1016/j.jaci.2013.11.018. Epub 2014 Jan 7.

18.

Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3.

de Saint Basile G, Geissmann F, Flori E, Uring-Lambert B, Soudais C, Cavazzana-Calvo M, Durandy A, Jabado N, Fischer A, Le Deist F.

J Clin Invest. 2004 Nov;114(10):1512-7.

19.

Severe combined immunodeficiency with absence of peripheral blood CD8+ T cells due to ZAP-70 deficiency.

Elder ME, Hope TJ, Parslow TG, Umetsu DT, Wara DW, Cowan MJ.

Cell Immunol. 1995 Oct 1;165(1):110-7.

PMID:
7671314
20.

ZAP70: a master regulator of adaptive immunity.

Fischer A, Picard C, Chemin K, Dogniaux S, le Deist F, Hivroz C.

Semin Immunopathol. 2010 Jun;32(2):107-16. doi: 10.1007/s00281-010-0196-x. Epub 2010 Feb 5. Review.

PMID:
20135127
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