Evaluating the patients who followed up with primaryimmunodeficiency diagnosis accompanied by autoimmune / inflammatorymanifestations

Primary immunodeficiencies (PID) are being consulted not only with infections but also with non-infectious manifestations such as autoimmunity, inflammation, lymphoproliferation, and malignancy defined as the features of immune dysregulation. We aimed to evaluate the primary immunodeficiencies (PID) accompanied by autoimmune/inflammatory manifestations and examine the relation in-between. Files and hospital records of patients with PID within 0-70 ages and who were followed up in our clinic between January 1st-2000-December 31st- 2021, and whose follow-up data could be accessed were retrospectively reviewed. Accompanying autoimmune/inflammatory manifestations were recorded. The ratio of autoimmune/inflammatory manifestations in PID was 29.8%. The median age of diagnosis of 531 males and 372 females (boys/girls: 1.4) was 6 years (1 day-67 years). At the time of administration %69 of patients had autoimmune/inflammatory manifestations. The most common PID diagnosis which accompanied autoimmune/inflammatory manifestations were predominantly antibody deficiencies (62.7%); combined immunodeficiencies (11.1%) and diseases of immune dysregulation (8.5%). The most common accompanying autoimmune/inflammatory diseases were allergic diseases (60%), gastroenterological diseases (%17), and dermatologic diseases (15.1%). 23.5% of patients had more than one autoimmune/inflammatory disease. In the patients with multiple autoimmune/inflammatory diseases, the common PID class was the PIDs with dominantly antibody deficiencies and the ratio of the diseases of immune dysregulation was high when compared to the dispersion among PID classes (p<0.05). Even though not all parameters were questioned for all patients, autoimmune/inflammatory signs were detected in 66.9% of patients, and more than half of them were detected by laboratory techniques. 5.1% of patients had genetic comorbidity; mainly chromosomal anomalies and the mortality rate was 4.9%. Mortality was higher among the patients who had genetic comorbidity (p<0.02). More than half of the autoimmune/inflammatory signs were detected before the diagnosis of PIDs made us think that autoimmune/ inflammatory manifestations are a directory for PID diagnosis as much as infections. Increased awareness of the autoimmune/inflammatory features and popularized use of autoimmune/ inflammatory signs in clinics may help the early PID diagnosis and decrease PIDrelated mortality and morbidity.