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Aydin Koker, Sultan, Gulez, Nesrin, Rieux-Laucat, Frederic, Genel, Ferah, Vergin, Canan, Picard, Capucine. (1399). Letter to the Editor: Coexistence of Autoimmune Lymphoproliferative Syndrome and Familial Mediterranean Fever. سامانه مدیریت نشریات علمی, 17(2), 172-174. doi: 10.22034/iji.2020.85774.1725
Sultan Aydin Koker; Nesrin Gulez; Frederic Rieux-Laucat; Ferah Genel; Canan Vergin; Capucine Picard. "Letter to the Editor: Coexistence of Autoimmune Lymphoproliferative Syndrome and Familial Mediterranean Fever". سامانه مدیریت نشریات علمی, 17, 2, 1399, 172-174. doi: 10.22034/iji.2020.85774.1725
Aydin Koker, Sultan, Gulez, Nesrin, Rieux-Laucat, Frederic, Genel, Ferah, Vergin, Canan, Picard, Capucine. (1399). 'Letter to the Editor: Coexistence of Autoimmune Lymphoproliferative Syndrome and Familial Mediterranean Fever', سامانه مدیریت نشریات علمی, 17(2), pp. 172-174. doi: 10.22034/iji.2020.85774.1725
Aydin Koker, Sultan, Gulez, Nesrin, Rieux-Laucat, Frederic, Genel, Ferah, Vergin, Canan, Picard, Capucine. Letter to the Editor: Coexistence of Autoimmune Lymphoproliferative Syndrome and Familial Mediterranean Fever. سامانه مدیریت نشریات علمی, 1399; 17(2): 172-174. doi: 10.22034/iji.2020.85774.1725

Letter to the Editor: Coexistence of Autoimmune Lymphoproliferative Syndrome and Familial Mediterranean Fever

Iranian Journal of Immunology
مقاله 8، دوره 17، شماره 2، شهریور 2020، صفحه 172-174    اصل مقاله (556.15 K)
نوع مقاله: Letter To The Editor
شناسه دیجیتال (DOI): 10.22034/iji.2020.85774.1725
نویسندگان
Sultan Aydin Koker* 1؛ Nesrin Gulez2؛ Frederic Rieux-Laucat3؛ Ferah Genel4؛ Canan Vergin1؛ Capucine Picard5
1Department of Pediatric Hematology, Dr. Behçet Uz Children’s Hospital, Izmir, Turkey
2Department of Pediatric Immunology, Dr. Behçet Uz Children’s Hospital, Izmir, Turkey
3Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, Paris, France Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France
4Department of Pediatric Allergy and Immunology, Dr. Behcet Uz Children's Hospital, Izmir, Turkey
5Paris University, Necker Medical School, Paris, France., Study Center for Primary Immunodeficiencies, Necker-Enfants Malades Hospital,APHP, Paris, France.
چکیده
Autoimmune lymphoproliferative syndrome (ALPS) is a rare inherited disorder of apoptosis, most commonly due to mutations in the FAS (TNFRSF6) gene. ALPS caused by defective lymphocyte homeostasis is characterized by non-malignant lymphoproliferation that often improves with age and is an autoimmune disease, mostly directed toward blood cells. This report describes a 17-year-old female with ALPS who developed skin rashes and aphthous stomatitis after using colchicine therapy owing to Familial Mediterranean Fever (FMF) with V726A heterozygous mutation in MEFV gene, hepatosplenomegaly, lymphadenopathy and pancytopenia, elevated vitamin B 12 and IL-10, elevated double-negative T cells (DNTs) and elevated immunoglobulin (Ig) G, consistent with a heterozygous germline FAS mutation [p.E261K (c.781G>A)]. In our country where genetic diseases are common due to consanguineous marriages, diseases with serious morbidity such as ALPS should be kept in mind. We should not forget that autoinflammatory diseases and familial Mediterranean fever can coexist owing to very high carrier rate in our country.
کلیدواژه‌ها
Autoimmune؛ Familial Mediterranean Fever؛ Hepatosplenomegaly؛ Lymphadenopathy
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