Interleukin-1 Receptor-Associated Kinases , Osteomyelitis , Salmonella Infections , Humans , Osteomyelitis/microbiology , Osteomyelitis/etiology , Interleukin-1 Receptor-Associated Kinases/deficiency , Interleukin-1 Receptor-Associated Kinases/genetics , Salmonella Infections/complications , Primary Immunodeficiency Diseases/complications , Primary Immunodeficiency Diseases/genetics , Male , Immunologic Deficiency Syndromes/complications , Female
Ataxia-telangiectasia (A-T) is a multisystem disease caused by a genetic defect located on the long arm of chromosome 11 (11p22-23). The gene defect results in the loss of A-T-mutated protein, subsequently leading to unrepaired DNA fractures and defects in the signal transduction pathway. As a result, characteristic findings arise, including recurrent sinopulmonary infections, hypersensitivity against ionized radiation with the tendency to develop cancer related to progressive cerebellar ataxia, pathognomonic oculocutaneous telangiectasias, varying degrees of humoral and cellular immunodeficiency, and infertility. This case report presents a 3-year-old male patient with A-T who developed hemophagocytic syndrome. To the best of our knowledge, no such case has been previously reported.
Ataxia Telangiectasia/diagnosis , Lymphohistiocytosis, Hemophagocytic/diagnosis , Ataxia Telangiectasia/pathology , Child, Preschool , Humans , Lymphohistiocytosis, Hemophagocytic/pathology , Male
BACKGROUND: The cause and pathophysiology of PFAPA syndrome is unknown. The aim of this study was to determine all MEFV gene variants relevant to familial Mediterranean fever in children with PFAPA syndrome. METHODS: All MEFV gene variants were analyzed in patients with PFAPA syndrome. All patients were evaluated using the Gaslini scoring system. Serum immunoglobulin levels were also determined upon admission. RESULTS: We evaluated 64 patients with PFAPA syndrome. The median age at diagnosis was 37.5 (min-max: 6-96) months, and the percentage of male patients was 55.0%. The Gaslini diagnostic score for periodic fever was high in 81.0% of the patients. An MEFV gene mutation was found in 42 (66.0%) children. Mostly, heterozygous or compound heterozygous variants of the MEFV gene were found. Two patients were homozygous for R202Q. MEFV gene mutations were not detected in 22 (34.0%) patients. No significant differences in clinical or laboratory findings were observed between the two groups (p > 0.05), and there were no significant differences in period and duration of the fever episodes (p > 0.05). The fever of all 47 patients (100.0%) who received prednisolone during the episodes decreased within hours and did not recur. Eighteen of the patients using prednisolone underwent prophylaxis with colchicine, and the fever episodes of 9/18 (50.0%) patients using colchicine decreased within months. CONCLUSIONS: Most patients presenting with PFAPA syndrome have heterozygous MEFV gene mutations. Whether carrying a heterozygous MEFV gene is the primary cause of this syndrome requires further investigation.
Cytoskeletal Proteins/genetics , Familial Mediterranean Fever/genetics , Lymphadenitis/genetics , Mutation , Pharyngitis/genetics , Stomatitis, Aphthous/genetics , Anti-Inflammatory Agents/therapeutic use , Biomarkers/blood , Child , Child, Preschool , Colchicine/therapeutic use , DNA Mutational Analysis , Familial Mediterranean Fever/blood , Familial Mediterranean Fever/diagnosis , Familial Mediterranean Fever/drug therapy , Female , Genetic Association Studies , Genetic Predisposition to Disease , Glucocorticoids/therapeutic use , Heterozygote , Homozygote , Humans , Immunoglobulin G/blood , Infant , Lymphadenitis/blood , Lymphadenitis/diagnosis , Lymphadenitis/drug therapy , Male , Pharyngitis/blood , Pharyngitis/diagnosis , Pharyngitis/drug therapy , Phenotype , Prednisolone/therapeutic use , Pyrin , Retrospective Studies , Risk Factors , Stomatitis, Aphthous/blood , Stomatitis, Aphthous/diagnosis , Stomatitis, Aphthous/drug therapy , Syndrome , Treatment Outcome
