| Literature DB >> 22487848 |
D Mansouri1, S A Mahdaviani, S Khalilzadeh, S A Mohajerani, M Hasanzad, S Sadr, S A Nadji, S Karimi, A Droodinia, N Rezaei, R M Linka, K Bienemann, A Borkhardt, M R Masjedi, A A Velayati.
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.Entities:
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Year: 2012 PMID： 22487848 DOI： 10.1159/000333472
Source DB: PubMed Journal: Int Arch Allergy Immunol ISSN： 1018-2438 Impact factor: 2.749