Genetic studies play an important role in the correct diagnosis of congenital immunodeficiency conditions

Abstract

Abstract More than 350 kinds of PID (Primary Immunodeficiency disorders) related gene defects have been found, which lead to multiple clinical manifestations including repeated infection or opportunistic bacterial infections, autoimmune and malignant tumors. The 6-year-old boy was born from third pregnancy and not related parents. His oldest brother died at the age of 3 from unknown disease, second sibling, 11 years old, is alive. Until the age of 3 patient developed normally, when he started exhibiting swelling in the lymph node and temperature increased to 38–40°C. Lymph node biopsy showed tuberculosis. Bilateral pneumonia and the swollen right ankle, right and left elbow with purulent abscesses in the ankles and elbows. Surgical treatment gave a short-term relieve. At the age of 5, the disease recurred and all treatments were ineffective. CBC, biochemical, serological, immunological analysis and X-ray, US, MRT were done. Genetic sequence analysis of the 207 genes listed in the Genes Analyzed section (Invitae Primary Immunodeficiency Panel) was carried out. On objective examination, the anterior cervical lymph node and the axillary lymph nodes were swollen on both sides. Aplasia of tonsils, “high palate”, hepatomegaly and splenomegaly were detected. Lab results showed severe anemia and high CRP (60 mq/l), however, HbsAg, HCV, Anti-Syphilis, Brucella antibodies were negative. Genetic examination: heterozygous mutations in CASP10, CLPB, CSF3R, CTPS1, IL17RC, LRBA, NLRP12, RFX5 genes were found. Diagnostic genetic testing to clarify the severity of disease and assistance with a personalized treatment may help management of patient.