Novel Patient with Late-Onset Familial Hemophagocytic Lymphohistiocytosis with STXBP2 Mutations Presenting with Autoimmune Hepatitis, Neurological Manifestations and Infections Associated with Hypogammaglobulinemia

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• 作者：Hossein Esmaeilzadeh (1) (2) <br> Mohammad Hasan Bemanian (1) <br> Mohammad Nabavi (1) <br> Saba Arshi (1) <br> Morteza Fallahpour (1) <br> Ilka Fuchs (3) <br> Udo zur Stadt (4) <br> Klaus Warnatz (3) <br> Sandra Ammann (3) <br> Stephan Ehl (3) <br> Kai Lehmberg (5) <br> Nima Rezaei (6) (7) <br><br>1. Department of Allergy and Immunology ; Rasool e Akram Hospital ; Iran University of Medical Sciences ; Tehran ; Iran <br> 2. Allergy Research Center ; Shiraz University of Medical Sciences ; Shiraz ; Iran <br> 3. Centre of Chronic Immunodeficiency (CCI) ; University Medical Centre ; Freiburg ; Germany <br> 4. Center for Diagnostic ; University Medical Center Hamburg Eppendorf ; Hamburg ; Germany <br> 5. Department of Pediatric Hematology and Oncology ; University Medical Center Hamburg Eppendorf ; Hamburg ; Germany <br> 6. Molecular Immunology Research Center ; and Department of Immunology ; School of Medicine ; Tehran University of Medical Sciences ; Tehran ; Iran <br> 7. Research Center for Immunodeficiencies ; Children鈥檚 Medical Center ; Tehran University of Medical Sciences ; Tehran ; Iran <br>
• 关键词：Familial hemophagocytic lymphohistiocytosis ; STXBP2 ; brain lesions ; autoimmune hepatitis
• 刊名：Journal of Clinical Immunology
• 出版年：2015
• 出版时间：January 2015
• 年：2015
• 卷：35
• 期：1
• 页码：22-25
• 全文大小：4,909 KB
• 参考文献：1. Shamsian BS, Rezaei N, Alavi S, et al. Primary hemophagocytic lymphohistiocytosis in Iran: Report from a single referral center. Pediatr Hematol Oncol. 2012;29(3):215鈥?. blank" title="It opens in new window">CrossRef <br> 2. Filipovich AH. Hemophagocytic lymphohistiocytosis and other hemophagocytic disorders. Immunol Allergy Clin North Am. 2008;28(2):293鈥?13. blank" title="It opens in new window">CrossRef <br> 3. Henter JI, Horne A, Arico M, et al. HLH-2004: Diagnostic and therapeutic guideline for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007;48(2):124鈥?1. bc.21039" target="_blank" title="It opens in new window">CrossRef <br> 4. Pagel J, Beutel K, Lehmberg K. Distinct mutations in / STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lmphohistiocytosis type 5 (FHL5). Blood. 2012;119(25):6016鈥?4. blood-2011-12-398958" target="_blank" title="It opens in new window">CrossRef <br> 5. Gholam C, Grigoriadou S, Gilmour C, et al. Familial haemophagocytic lymphohistiocytosis: advances in the genetic basis, diagnosis and management. Clin Exp Immunol. 2011;163:271鈥?3. blank" title="It opens in new window">CrossRef <br> 6. Dehkordy SF, Aghamohammadi A, Ochs HD, Rezaei N. Primary immunodeficiency diseases associated with neurologic manifestations. J Clin Immunol. 2012;32(1):1鈥?4. blank" title="It opens in new window">CrossRef <br> 7. Deiva K, Mahlaoui N, Beaudonnet F, et al. CNS involvement at the onset of primary hemophagocytic lymphohistiocytosis. Neurology. 2012;78(15):1150鈥?. b013e31824f800a" target="_blank" title="It opens in new window">CrossRef <br> 8. zur Stadt U, Rohr J, Seifert W. Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. Am J Hum Genet. 2009;85(4):482鈥?2. blank" title="It opens in new window">CrossRef <br> 9. C么te M, M茅nager MM, Burgess A, et al. Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. J Clin Invest. 2009;119(12):3765鈥?3. blank" title="It opens in new window">CrossRef <br> 10. Bryceson YT, Pende D, Pavicic AM, Gilmour KC, et al. A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes. Blood. 2012;119:2754鈥?3. blood-2011-08-374199" target="_blank" title="It opens in new window">CrossRef <br> 11. Rohr J, Beutel K, Maul-Pavicic A, et al. Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases. Haematologica. 2010;95(12):2080鈥?. blank" title="It opens in new window">CrossRef <br> 12. Meeths M, Entesarian M, Al-Herz W, et al. Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2. Blood. 2010;116(15):2635鈥?3. blood-2010-05-282541" target="_blank" title="It opens in new window">CrossRef <br>
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Biomedicine<br>Immunology<br>Infectious Diseases<br>Internal Medicine<br>Medical Microbiology<br>
• 出版者：Springer Netherlands
• ISSN：1573-2592

文摘

Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous hyperinflammatory syndrome, caused by an uncontrolled and ineffective proliferation and activation of T-lymphocytes, NK-cells, and macrophages that infiltrate multiple organs. Herein, a patient is presented who suffered from hepatitis and atypical brain lesions. Genetic studies revealed a homozygous mutation in the STXP2 gene; and thus, the diagnosis of FHL5 was confirmed.