Silent brain infarcts in two patients with zeta chain-associated protein 70 kDa (ZAP70) deficiency.
作者： H. Haluk Akar , Turkan Patiroglu , Basak N. Akyildiz , Nazan U. Tekerek , M. Sait Doğan
DOI: 10.1016/J.CLIM.2015.03.014
关键词:
摘要: Abstract Zeta-chain associated protein 70 kDa deficiency (ZAP70) is a form of severe combined immunodeficiency (SCID). It caused by defects in the signaling pathways with T-lymphocyte activation. ZAP70 characterized marked reduction peripheral CD8 + T-cells. In this report, we described two patients who presented recurrent infections, lung tuberculosis (TBC), congenital nephrotic syndrome (CNS), and silent brain infarcts (SBIs) as common feature. The first patient initially infections TBC classic SCID patient. At age 4, he was interned febrile seizure. Cranial magnetic resonance imaging (MRI) showed SBIs. second patient, an 8-month-old boy, cytomegalovirus (CMV) had also
elsevier.com
sci-hub.se 参考文章(18)
Ismail Reisli, Aydan Ikincioğullari, Figen Doğu, Sükrü Cin, Emel Babacan, Yonca Eğin, Tanil Kendirli, Peripheral blood lymphocyte subsets in healthy Turkish children. Turkish Journal of Pediatrics. ,vol. 46, pp. 125- 130 ,(2004)
Saud Alromaih, Leandra Mfuna-Endam, Yohan Bosse, Abdelali Filali-Mouhim, Martin Desrosiers, CD8A gene polymorphisms predict severity factors in chronic rhinosinusitis International Forum of Allergy & Rhinology. ,vol. 3, pp. 605- 611 ,(2013) , 10.1002/ALR.21174
D PARRY, J BLUMENTHAL, R TOMAR, S HOROWITZ, M ELDER, J GERN, 830 A 3-year-old boy with ZAP-70 deficiency, thrombocytopenia and ulcerative colitis The Journal of Allergy and Clinical Immunology. ,vol. 97, pp. 390- 390 ,(1996) , 10.1016/S0091-6749(96)81048-7
M Hönig, C Schuetz, K Schwarz, M Rojewski, E Jacobsen, G Lahr, K-M Debatin, A Schulz, W Friedrich, Immunological reconstitution in a patient with ZAP-70 deficiency following transfusion of blood lymphocytes from a previously transplanted sibling without conditioning Bone Marrow Transplantation. ,vol. 47, pp. 305- 307 ,(2012) , 10.1038/BMT.2011.71
Farid Radmanesh, Farideh Nejat, Mostafa El Khashab, Cerebral Infarction as the First Presentation of Tuberculosis in an Infant: A Case Report Journal of Microbiology Immunology and Infection. ,vol. 43, pp. 249- 252 ,(2010) , 10.1016/S1684-1182(10)60039-4
Vy Hong-Diep Kim, Luis Murguia, Tal Schechter, Eyal Grunebaum, Chaim M. Roifman, Emergency treatment for ζ chain–associated protein of 70 kDa (ZAP70) deficiency The Journal of Allergy and Clinical Immunology. ,vol. 131, pp. 1233- 1235 ,(2013) , 10.1016/J.JACI.2012.09.020
Lisa A Miosge, Christopher C Goodnow, Genes, pathways and checkpoints in lymphocyte development and homeostasis Immunology and Cell Biology. ,vol. 83, pp. 318- 335 ,(2005) , 10.1111/J.1440-1711.2005.01353.X
G. Alistair Lammie, Richard H. Hewlett, Johan F. Schoeman, Peter R. Donald, Tuberculous cerebrovascular disease: a review. Journal of Infection. ,vol. 59, pp. 156- 166 ,(2009) , 10.1016/J.JINF.2009.07.012
Mirjam van der Burg, Andy R. Gennery, Educational paper. The expanding clinical and immunological spectrum of severe combined immunodeficiency. European Journal of Pediatrics. ,vol. 170, pp. 561- 571 ,(2011) , 10.1007/S00431-011-1452-3
J. Zimmer, E. Andrès, L. Donato, D. Hanau, F. Hentges, H. de la Salle, Clinical and immunological aspects of HLA class I deficiency. QJM: An International Journal of Medicine. ,vol. 98, pp. 719- 727 ,(2005) , 10.1093/QJMED/HCI112