Silent brain infarcts in two patients with zeta chain-associated protein 70 kDa (ZAP70) deficiency

被引：15

作者：

Akar, H. Haluk ^{[1
]}

Patiroglu, Turkan ^{[1
]}

Akyildiz, Basak N. ^{[2
]}

Tekerek, Nazan U. ^{[2
]}

Dogan, M. Salt ^{[3
]}

Doganay, Selim ^{[3
]}

van der Burg, Mirjam ^{[4
]}

Dusunsel, Ruhan ^{[5
]}

机构：

[1] Erciyes Univ, Sch Med, Dept Pediat Immunol, Kayseri, Turkey

[2] Erciyes Univ, Fac Med, Dept Pediat Intens Care Unit, Kayseri, Turkey

[3] Erciyes Univ, Fac Med, Dept Pediat Radiol, Kayseri, Turkey

[4] Univ Med Ctr Rotterdam, Dept Erasmus MC, Rotterdam, Netherlands

[5] Erciyes Univ, Fac Med, Dept Pediat Nephrol, Kayseri, Turkey

来源：

CLINICAL IMMUNOLOGY | 2015年 / 158卷 / 01期

关键词：

ZAP70; deficiency; Silent brain infarcts; Congenital nephrotic syndrome; ZAP-70;

D O I：

10.1016/j.clim.2015.03.014

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Zeta-chain associated protein 70 kDa deficiency (ZAP70) is a form of severe combined immunodeficiency (SCID). It is caused by defects in the signaling pathways associated with T-lymphocyte activation. ZAP70 deficiency is characterized by a marked reduction in peripheral CD8+ T-cells. In this report, we described two patients with ZAP70 deficiency who presented with recurrent infections, lung tuberculosis (TBC), congenital nephrotic syndrome (CNS), and silent brain infarcts (SBIs) as a common feature. The first patient initially presented with recurrent infections and TBC as in a classic SCID patient. At the age of 4, he was interned with febrile seizure. Cranial magnetic resonance imaging (MRI) showed SBIs. The second patient, an 8-month-old boy, presented with congenital nephrotic syndrome caused by cytomegalovirus (CMV) and he had also SBIs. (C) 2015 Elsevier Inc. All rights reserved.

引用

页码：88 / 91

页数：4

共 18 条

[1]

Aksu G, 2006, TURKISH J PEDIATR, V48, P19

[2] CD8A gene polymorphisms predict severity factors in chronic rhinosinusitis [J].

Alromaih, Saud ;

Mfuna-Endam, Leandra ;

Bosse, Yohan ;

Filali-Mouhim, Abdelali ;

Desrosiers, Martin .

INTERNATIONAL FORUM OF ALLERGY & RHINOLOGY, 2013, 3 (08) :605-611

[3] Phenotypic and functional evaluation of CD3+CD4-CD8- T cells in human CD8 immunodeficiency [J].

Bernardo, Ivan ;

Mancebo, Esther ;

Aguilo, Ignacio ;

Anel, Alberto ;

Allende, Luis M. ;

Guerra-Vales, Juan M. ;

Ruiz-Contreras, Jesus ;

Serrano, Antonio ;

Talayero, Paloma ;

de la Calle, Oscar ;

Gonzalez-Santesteban, Cecilia ;

Paz-Artal, Estela .

HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2011, 96 (08) :1195-1203

[4] Silent cerebral infarcts: a review on a prevalent and progressive cause of neurologic injury in sickle cell anemia [J].

DeBaun, Michael R. ;

Armstrong, F. Daniel ;

McKinstry, Robert C. ;

Ware, Russell E. ;

Vichinsky, Elliot ;

Kirkham, Fenella J. .

BLOOD, 2012, 119 (20) :4587-4596

[5]

Elder ME, 1998, SEMIN HEMATOL, V35, P310

[6] The epidemiology of silent brain infarction: a systematic review of population-based cohorts [J].

Fanning, Jonathon P. ;

Wong, Andrew A. ;

Fraser, John F. .

BMC MEDICINE, 2014, 12

[7] Immunological reconstitution in a patient with ZAP-70 deficiency following transfusion of blood lymphocytes from a previously transplanted sibling without conditioning [J].

Hoenig, M. ;

Schuetz, C. ;

Schwarz, K. ;

Rojewski, M. ;

Jacobsen, E. ;

Lahr, G. ;

Debatin, K-M ;

Schulz, A. ;

Friedrich, W. .

BONE MARROW TRANSPLANTATION, 2012, 47 (02) :305-307

[8]

Ikinciogullari A., 2004, TURKISH J PEDIATR, V46, P125

[9] Emergency treatment for ζ chain-associated protein of 70 kDa (ZAP70) deficiency [J].

Kim, Vy Hong-Diep ;

Murguia, Luis ;

Schechter, Tal ;

Grunebaum, Eyal ;

Roifman, Chaim M. .

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2013, 131 (04) :1233-1235

[10] Tuberculous cerebrovascular disease: A review [J].

Lammie, G. Alistair ;

Hewlett, Richard H. ;

Schoeman, Johan F. ;

Donald, Peter R. .

JOURNAL OF INFECTION, 2009, 59 (03) :156-166

← 1 2 →