The IgG concentration was evaluated using immunoturbidimetry, while IgG subclass levels by the nephelometric method

The IgG concentration was evaluated using immunoturbidimetry, while IgG subclass levels by the nephelometric method. antibodies (n?=?8; 13.8%). Anti-TPO antibody levels were elevated more often in PID patients with a positive family history of autoimmune diseases (p?=?0.04). The screening for anti-deamidated gliadin peptide (DGP) and anti-tissue transglutaminase (tTG) antibodies in our series allowed identifying two previously undiagnosed cases of coeliac disease in PID patients.?There was no statistically significant difference between the study and the control group in terms of the autoantibodies prevalence. Conclusions This study provides data around the Rabbit Polyclonal to XRCC5 prevalence of autoantibodies in paediatric populace Nifenazone diagnosed with PID. Selected autoantibodies (i.e. anti-tTG, anti-DGP) might be useful for the screening of PID to avoid the delay of diagnosis of an autoimmune disease. Supplementary Information The online version contains supplementary material available at 10.1186/s12865-023-00543-6. Keywords: Autoantibody, Autoimmunity, Coeliac disease, Immune dysregulation, Inborn errors of immunity, Primary immunodeficiency Background Inborn errors of immunity (IEI) are a heterogeneous group of inherited diseases caused by monogenic germline mutations and result in the loss or gain of the function of the encoded protein. Individually, most IEI occur rarely, but collectively they are more common than is generally believed?[1, 2]. The description of clinical phenotypes is constantly updated in the growing field of primary immunodeficiencies (PIDs) [1, 3C5]. The 55 novel gene defects reported in the last IEI update bring the total number of IEI to 485. In practice, IEI are associated with increased susceptibility to infectious diseases (especially severe, atypical, and/or recurrent infections). The diversity of autoimmune, autoinflammatory, allergic and/or malignant phenotypes is also associated with IEI [1]. The correlation between PIDs and autoimmunity has been extensively analysed [6C12]. In the past, PIDs and autoimmune diseases (AD) were considered independent, or even polar opposites [7, 8]. Nowadays, PIDs are regarded as unprecedented models connecting defined monogenic defects with clinical manifestations of incorrect immune regulation and a clinical picture characterised by infectious complications and autoimmunity [5, 6, 13]. The pathogenic process leading Nifenazone to the autoimmunity is usually complex and includes disturbed B cell differentiation and germ\center reactions, altered T cell central or peripheral tolerance, uncontrolled lymphocyte proliferation and differentiation, disturbances in Treg/Th17 balance, dysfunctional complement and innate immune activation, and the defective clearance of the infectious brokers [6, 11]. Scientific data suggests that autoimmunity may be associated with PIDs in a significant proportion of patients [14C18]. Autoimmune manifestations are observed frequently in patients Nifenazone with primary antibody deficiencies (PADs), but are also reported in individuals with combined immunodeficiency disorders (CIDs) [19]. Moreover, many PIDs are Nifenazone associated with defects in the frequency and function of T regulatory (Treg) cells, as well as with the production of autoantibodies (AA).?The IUIS classification features an independent category nameddiseases of immune dysregulation. A regulatory disorder can cause Nifenazone abnormal activation and growth of immune cells, leading to autoimmunity, hyperinflammation and malignant proliferation [8]. Those might result in a bad prognosis in patients with immune dysregulation compared to those with only high susceptibility to infections [13, 14]. Due to the coexistence of autoimmunity and immunodeficiency in some cases, the treatment may be challenging and requires a personalised approach [18]. To this date, several studies have been conducted to analyse the frequency as well as the mechanisms of an AD in PIDs [14, 15]. Most of the published studies were concentrated on clinical presentation of AD. However, their interpretation is usually difficult due to ethnic and geographical diversity. More data is required for conclusive evidence. The occurrence of AA in paediatric PID patients.