title: IL-2-inducible T-cell kinase deficiency with pulmonary manifestations due to disseminated Epstein-Barr virus infection.
abstract: 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.
authors.affiliation: Department of Clinical Immunology, National Research Institute of Tuberculosis and Lung Diseases, Masih Daneshvari Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: D
authors.initials: D
authors.lastname: Mansouri
authors.forename: S A
authors.initials: SA
authors.lastname: Mahdaviani
authors.forename: S
authors.initials: S
authors.lastname: Khalilzadeh
authors.forename: S A
authors.initials: SA
authors.lastname: Mohajerani
authors.forename: M
authors.initials: M
authors.lastname: Hasanzad
authors.forename: S
authors.initials: S
authors.lastname: Sadr
authors.forename: S A
authors.initials: SA
authors.lastname: Nadji
authors.forename: S
authors.initials: S
authors.lastname: Karimi
authors.forename: A
authors.initials: A
authors.lastname: Droodinia
authors.forename: N
authors.initials: N
authors.lastname: Rezaei
authors.forename: R M
authors.initials: RM
authors.lastname: Linka
authors.forename: K
authors.initials: K
authors.lastname: Bienemann
authors.forename: A
authors.initials: A
authors.lastname: Borkhardt
authors.forename: M R
authors.initials: MR
authors.lastname: Masjedi
authors.forename: A A
authors.initials: AA
authors.lastname: Velayati
mesh_terms: D000293:Adolescent; D058846:Antibodies, Monoclonal, Murine-Derived / Q000627:therapeutic use; D001402:B-Lymphocytes / Q000187:drug effects / Q000473:pathology / Q000821:virology; D001992:Bronchoalveolar Lavage Fluid / Q000821:virology; D003371:Cough / Q000175:diagnosis / Q000188:drug therapy / Q000201:enzymology / Q000473:pathology / Q000821:virology; D004279:DNA, Viral / Q000032:analysis; D020031:Epstein-Barr Virus Infections / Q000188:drug therapy / Q000201:enzymology* / Q000473:pathology; D005260:Female; D005334:Fever / Q000175:diagnosis / Q000188:drug therapy / Q000201:enzymology / Q000473:pathology / Q000821:virology; D006801:Humans; D007155:Immunologic Factors / Q000627:therapeutic use; D008168:Lung / Q000000981:diagnostic imaging / Q000187:drug effects / Q000201:enzymology / Q000473:pathology / Q000821:virology; D008213:Lymphocyte Activation / Q000187:drug effects / Q000235:genetics; D008232:Lymphoproliferative Disorders / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000201:enzymology / Q000473:pathology / Q000821:virology; D011024:Pneumonia, Viral / Q000188:drug therapy / Q000201:enzymology* / Q000473:pathology; D017354:Point Mutation; D011505:Protein-Tyrosine Kinases / Q000235:genetics*; D000069283:Rituximab; D014057:Tomography, X-Ray Computed
chemical_list: D058846:Antibodies, Monoclonal, Murine-Derived; D004279:DNA, Viral; D007155:Immunologic Factors; D000069283:Rituximab; D011505:Protein-Tyrosine Kinases; C080813:emt protein-tyrosine kinase