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IL-2-Inducible T-Cell Kinase Deficiency with Pulmonary Manifestations due to Disseminated Epstein-Barr Virus Infection


D. Mansouri (b) S.A. Mahdaviani (a), b S. Khalilzadeh (a) S.A. Mohajerani (b) M. Hasanzad (a) S. Sadr (a) S.A. Nadji (c) S. Karimi (a) A. Droodinia
a N. Rezaei (d) R.M. Linka (e) K. Bienemann (e) A. Borkhardt (e) M.R. Masjedi (b) A.A. Velayati (a
a Pediatrics Respiratory Disease Research Center, b Department of Clinical Immunology, and c Virology Research Center, National Research Institute of Tuberculosis and Lung Diseases, Masih Daneshvari Hospital, Shahid Beheshti
University of Medical Sciences, and d Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran , Iran; e Department of Pediatric Oncology, Hematology and Clinical Immunology, Centre for Child and Adolescent Health, Heinrich Heine University, Düsseldorf , Germany

IL-2-inducible T-cell kinase (ITK) deficiency is a rare inherited immunodeficiency disease characterized by homozygous mutations in the ITK gene and the inability to control Epstein-Barr virus (EBV) infection leading to EBV-associated lymphoproliferative disorders of B cell origin. Many aspects of its clinical presentation and immunologic phenotype are still unclear to clinicians. We report on a 14-year-old female patient with complaints of an 8-month history of cough and fever. Imaging studies revealed diffuse pulmonary nodules and mediastinal lymphadenopathy. Transbronchial lung biopsy showed nonmalignant polyclonal B cell proliferation. High titers of EBV DNA were detected by PCR analysis in
bronchoalveolar lavage fluid, bone marrow, and blood. Genomic analysis revealed a homozygous single base pair deletion in exon 5 of the ITK gene (c.468delT) in this patient. Treatment with rituximab (anti-CD20 mab) resulted in complete clinical remission with resolution of pulmonary lesions and a negative EBV titer in serum. All patients with EBV-associated lymphoproliferative disorders should be analyzed for mutations in ITK

Download ZIP Download PDF                                              Int Arch Allergy Immunol 2012;158:418–422

 

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