İMMUNE DİAGNOSİS OF CANDLE-LİKE SYNDROME, AN AUTO-İNFLAMMATORY DİSEASE

Auto-inflammatory diseases are genetically caused heterogeneous diseases. These pathologies are mainly associated with disorders of the mechanism of non-specific immunity. In some cases, this may occur with a violation of the regulation of specific immunity. One of these pathologies is the CANDLE-like syndrome. The disease occurs mainly in the first months and progresses. This is mainly due to the autosomal recessive mutation in the PSMB8 gene. This pathology is a chronic atypical dermatosis characterized by weight loss due to lipodystrophy, fever, joint pain, subcutaneous nodules, subcutaneous fat and muscle dystrophy.

During the first few months, the patient had a high fever, small nodules under the skin for 2 months, and then large painful nodules, erythema throughout the body, lipoatrophy, joint pain, bloating, hepatosplenomegaly.

A general analysis of blood, urine and feces, a biochemical study, blood coagulation, some hormonal tests, an extensive immunological study, and determination of auto-specific antibodies were performed during laboratory studies. Due to on the results, it can be noted that the number of leukocytes, ECS, ALT, AST, QF, QQT, bilirubin and its fractions, total protein, albumin, Na, K, CL, Ca, Mg, P, uric acid, urea, sugar, creatinine kinase, ASO, reticulocyte count, prothrombin index and fibrinogen, free forms of the hormones TSH, T3- and T4 were within normal limits. ANA, Anti-dsDNA and Anti-ssDNA were negative for autoantibodies, EBV IgG and IgM were negative for specific antibodies, and Streptococc A was negative for yawning. Red blood cells, platelets, cholesterol, LDL, triglycerides, transferrin, erythropoietin, CRZ were above normal. Hb, both the relative and the absolute number of lymphocytes, Fe and its absorption, ferritin is 2.5-3 times higher than normal, HDL, creatinine and vit. D was below normal. Extensive immunological studies have revealed a decrease in IgA, IgE, CD3, CD4 and CD19, an increase in absolute IgG, CD8, CD16 / CD56, CD4 / CD8 and HLA-DR. Although genetic testing did not reveal the PSMB4, PSMB8, PSMB9, and PSMA3 genes, the patient was diagnosed CANDLE-like because all clinical signs and course of the disease resembled suppository syndrome.