Document Type : Letter To The Editor

Authors

• Sultan Aydin Koker ¹
• Nesrin Gulez ²
• Frederic Rieux-Laucat ³
• Ferah Genel ⁴
• Canan Vergin ¹
• Capucine Picard ⁵

¹ Department of Pediatric Hematology, Dr. Behçet Uz Children’s Hospital, Izmir, Turkey

² Department of Pediatric Immunology, Dr. Behçet Uz Children’s Hospital, Izmir, Turkey

³ Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, Paris, France Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France

⁴ Department of Pediatric Allergy and Immunology, Dr. Behcet Uz Children's Hospital, Izmir, Turkey

⁵ Paris University, Necker Medical School, Paris, France., Study Center for Primary Immunodeficiencies, Necker-Enfants Malades Hospital,APHP, Paris, France.

Abstract

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.

Keywords

• Autoimmune
• Familial Mediterranean Fever
• Hepatosplenomegaly
• Lymphadenopathy