Coexistence of Autoimmune Lymphoproliferative Syndrome and Familial Mediterranean Fever

Autoimmune Lymphoproliferative Syndrome (ALPS), was first described in the early 1990s (1), is defined as immune system failure due to insufficiency to control lymphocyte homeostasis by activity of lymphocyte apoptosis. ALPS represents a chronic nonmalignant lymphadenopathy, hepatomegaly, splenomegaly, and increased risk of lymphoma, as well as the autoimmune syndrome, typically affecting blood cells (2). According to the 2009 NIH International Workshop report, ALPS's is diagnosed by two required and six accessory criteria. Required criteria are the appearance of lymphadenopathy and/or splenomegaly, and elevated TCRαβ+-DNT cells (3) (Table 1). ALPS is commonly caused by an inherited germline or somatic heterozygous mutation in the FAS (TNFRSF6) gene, which is known as ALPS-FAS type 1A. A 12 years boy was admitted to our hospital with bicytopenia, hepatosplenomegaly, and lymphadenomegaly. First screening was performed for the metabolic disease at 18 months old. He had fever attacks lasting several days once every 2-3 months, and he was attended to our hospital due to developing a flat red rash on the body in this period at three years old. As he had growth retardation, hepatosplenomegaly, and elevated acute phase reactants, the metabolic diseases were excluded as a result of tests and liver biopsy. At seven years old, he developed self-healing wounds like an abscess on the face and fingers in 4-5 days, along with fever. MEFV gene analysis was identified as V726A heterozygous mutation. The patient received 1 mg/day colchicine treatment by rheumatologist collaborator. The fever attacks relapsed despite of colchicine treatment after two months. The patient developed mild neutropenia associated with colchicine treatment. However, periodic wounds like abscess occurred again. Because of the lymphopenia and neutropenia, axillary and cervical lymphadenopathy over 2 cm in addition to hepatosplenomegaly were again appeared at 12 years old, the patient was immunologically assessed which showed elevated DNT TCR alpha-beta on lymphocyte subgroup tests. The direct anti-globulin test was negative (IgG3+; C3d1+).