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

Gene

Volumn 512, Issue 2, 2013, Pages 189-193

  Karaca, Ender ^a   Karakoc Aydiner, Elif ^b   Bayrak, Omer Faruk ^c   Keles, Sevgi ^b   Sevli, Serhat ^d   Barlan, Isil B ^b   Yuksel, Adnan ^e   Chatila, Talal A ^f   Ozen, Mustafa ^d,e  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b MARMARA UNIVERSITY   (Turkey)

^c YEDITEPE UNIVERSITY   (Turkey)

^d ISTANBUL UNIVERSITY   (Turkey)

^e BEZMIALEM VAKIF UNIVERSITY   (Turkey)

^f UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Novel mutation; Prenatal diagnosis; SCID; ZAP70

Indexed keywords

ANTIBIOTIC AGENT; IMMUNOGLOBULIN E; PROTEIN KINASE ZAP 70;

ANEMIA; ARTICLE; CASE REPORT; CD4+ T LYMPHOCYTE; CD8+ T LYMPHOCYTE; CELL COUNT; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; DERMATITIS; ERYTHRODERMA; FAMILY HISTORY; GENE MUTATION; HEPATOSPLENOMEGALY; HOMOZYGOSITY; HUMAN; ICHTHYOSIS; IMMUNOGLOBULIN BLOOD LEVEL; INFANT; LYMPHOCYTOPENIA; MOLECULAR DIAGNOSIS; NATURAL KILLER CELL; NUCLEOTIDE SEQUENCE; PHYSICAL EXAMINATION; PNEUMONIA; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SEVERE COMBINED IMMUNODEFICIENCY; TURKEY (REPUBLIC);

ADULT; AMINO ACID SUBSTITUTION; CD8-POSITIVE T-LYMPHOCYTES; CHILD, PRESCHOOL; DERMATITIS; FAMILY; FEMALE; HUMANS; ICHTHYOSIS; IMMUNOGLOBULIN E; KILLER CELLS, NATURAL; LYMPHOCYTE COUNT; MALE; MUTATION, MISSENSE; PEDIGREE; PREGNANCY; PRENATAL DIAGNOSIS; SEVERE COMBINED IMMUNODEFICIENCY; T-LYMPHOCYTES, REGULATORY; TURKEY; ZAP-70 PROTEIN-TYROSINE KINASE;

EID: 84870350478     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.10.062     Document Type: Article

References (21)

1. Arpai E., Shahar M., Dadi H., Cohen A., Roifman C.M. Defective T cell receptor signaling and CD8(+) thymic selection in humans lacking Zap-70 kinase. Cell 1994, 76:947-958.
2. Au-Yeung B.B., et al. The structure, regulation, and function of ZAP-70. Immunol. Rev. 2009, 228(1):41-57. (Mar).
3. Chan A.C., Iwashima M., Turck C.W., Weiss A. ZAP-70: a 70kd protein-tyrosine kinase that associates with the TCR zeta chain. Cell 1992, 71:649-662.
4. Chan A.C., et al. ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency. Science 1994, 264:1599-1601.
5. Colucci F., et al. Natural cytotoxicity uncoupled from the Syk and ZAP-70 intracellular kinases. Nat. Immun. 2002, 3:288-294.
6. Elder M.E., et al. Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase. Science 1994, 264:1596-1599.
7. Elder M.E., Skoda-Smith S., Kadlecek T.A., Wang F., Wu J., Weiss A. Distinct T cell developmental consequences in humans and mice expressing identical mutations in the DLAARN motif of ZAP-70. J. Immunol. 2001, 166(1):656-661. (Jan 1).
8. Fischer A., Picard C., Chemin K., Dogniaux S., le Deist F., Hivroz C. ZAP70: a master regulator of adaptive immunity. Semin. Immunopathol. 2010, 32(2):107-116. (Jun).
9. Jmol: an open-source Java viewer for chemical structures in 3D. http://www.jmol.org/.
10. Matsuda S., Suzuki-Fujimoto T., Minowa A., Ueno H., Katamura K., Koyasu S. Temperature-sensitive ZAP70 mutants degrading through a proteasome-independent pathway. Restoration of a kinase domain mutant by Cdc37. J. Biol. Chem. 1999, 274(49):34515-34518. (Dec 3).
11. Meinl E., Lengenfelder D., Blank N., Pirzer R., Barata L., Hivroz C. Differential requirement of ZAP-70 for CD2-mediated activation pathways of mature human T cells. J. Immunol. 2000, 165(7):3578-3583. (Oct 1).
12. Newell A., Dadi H., Goldberg R., Ngan B.Y., Grunebaum E., Roifman C.M. Diffuse large B-cell lymphoma as presenting feature of Zap-70 deficiency. J. Allergy Clin. Immunol. 2011, 127(2):517-520. (Feb).
13. Noraz N., et al. Alternative antigen receptor (TCR) signaling in T cells derived from ZAP-70-deficient patients expressing high levels of Syk. J. Biol. Chem. 2000, 275(21):15832-15838. (May 26).
14. Picard C., et al. Hypomorphic mutation of ZAP70 in human results in a late onset immunodeficiency and no autoimmunity. Eur. J. Immunol. 2009, 39(7):1966-1976. (Jul).
15. Rassenti L.Z., et al. ZAP-70 compared with immunoglobulin heavy-chain gene mutation status as a predictor of disease progression in chronic lymphocytic leukemia. N. Engl. J. Med. 2004, 351:893-901.
16. Roifman C.M., et al. Depletion of CD8(+) cells in human thymic medulla results in selective immune deficiency. J. Exp. Med. 1989, 170:2177-2182.
17. Sakaguchi N., et al. Altered thymic T-cell selection due to a mutation of the ZAP-70 gene causes autoimmune arthritis in mice. Nature 2003, 426(6965):454-460.
18. Sanger database, http://www.sanger.ac.uk/perl/genetics/CGP/cgp_viewer?action=mut_summary&id=199058.
19. Toyabe S., Watanabe A., Harada W., Karasawa T., Uchiyama M. Specific immunoglobulin E responses in ZAP-70-deficient patients are mediated by Syk-dependent T-cell receptor signalling. Immunology 2001, 103:164-171.
20. Turul T., et al. Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency. Eur. J. Pediatr. 2009, 168(1):87-93. (Jan).
21. van der Burg M., Gennery A.R. Educational paper. The expanding clinical and immunological spectrum of severe combined immunodeficiency. Eur. J. Pediatr. 2011, 170(5):561-571.