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IL-2-Inducible T-Cell Kinase Deficiency with Pulmonary Manifestations due to Disseminated Epstein-Barr Virus InfectionMansouri D.b · Mahdaviani S.A.a, b · Khalilzadeh S.a · Mohajerani S.A.b · Hasanzad M.a · Sadr S.a · Nadji S.A.c · Karimi S.a · Droodinia A.a · Rezaei N.d · Linka R.M.e · Bienemann K.e · Borkhardt A.e · Masjedi M.R.b · Velayati A.A.a
aPediatrics Respiratory Disease Research Center, bDepartment of Clinical Immunology, and cVirology Research Center, National Research Institute of Tuberculosis and Lung Diseases, Masih Daneshvari Hospital, Shahid Beheshti University of Medical Sciences, and dResearch Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran; eDepartment of Pediatric Oncology, Hematology and Clinical Immunology, Centre for Child and Adolescent Health, Heinrich Heine University, Düsseldorf, Germany
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Article / Publication Details
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.
© 2012 S. Karger AG, Basel
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