BACKGROUND: The inborn errors of immunity (IEIs) are a group of heterogeneous disorders mainly characterized by severe and recurrent infections besides other complications including autoimmune and inflammatory diseases. In this study, we aim to evaluate clinical, immunological, and molecular data of monogenic IEI patients with and without autoimmune manifestations. METHODS: We have retrospectively screened cases of monogenic IEI in the Iranian PID registry for the occurrence of autoimmunity and immune dysregulation. A questionnaire was filled for all qualified patients with monogenic defects to evaluate demographic, laboratory, clinical, and molecular data. RESULTS: A total of 461 monogenic IEI patients (290 male and 171 female) with a medi...
Monogenic autoinflammatory syndromes (MAISs) are caused by innate immune system dysregulation leadin...
This work focuses on the identification of disease-causing genetic variants in paediatric patients w...
International audience: Monogenic autoinflammatory diseases are a group of hereditary disorders char...
Background: The inborn errors of immunity (IEIs) are a group of heterogeneous disorders mainly chara...
Background: Common variable immunodeficiency (CVID) is the most frequent primary immunodeficiency di...
BackgroundCombined immune deficiencies (CIDs) with associated or syndromic features are a highly het...
Cutaneous manifestations are one of the most common presentations among patients with inborn errors ...
The primary immunodeficiency diseases (PIDs) include many genetic disorders that affect different co...
Clinicians often face challenges due to symptoms that may result from a primary inborn error of immu...
Autoimmune diseases are usually associated with environmental triggers and genetic predisposition. H...
Monogenic autoinflammatory disorders are an increasingly heterogeneous group of conditions character...
Background: Combined immunodeficiencies (CIDs) are diseases of defective adaptive immunity with dive...
Inborn errors of immunity (IEI), also referred to as primary immunodeficiencies (PID), are disorders...
During the last years, studies investigating the intriguing association between immunodeficiency and...
Monogenic autoinflammatory syndromes (MAISs) are caused by innate immune system dysregulation leadin...
Monogenic autoinflammatory syndromes (MAISs) are caused by innate immune system dysregulation leadin...
This work focuses on the identification of disease-causing genetic variants in paediatric patients w...
International audience: Monogenic autoinflammatory diseases are a group of hereditary disorders char...
Background: The inborn errors of immunity (IEIs) are a group of heterogeneous disorders mainly chara...
Background: Common variable immunodeficiency (CVID) is the most frequent primary immunodeficiency di...
BackgroundCombined immune deficiencies (CIDs) with associated or syndromic features are a highly het...
Cutaneous manifestations are one of the most common presentations among patients with inborn errors ...
The primary immunodeficiency diseases (PIDs) include many genetic disorders that affect different co...
Clinicians often face challenges due to symptoms that may result from a primary inborn error of immu...
Autoimmune diseases are usually associated with environmental triggers and genetic predisposition. H...
Monogenic autoinflammatory disorders are an increasingly heterogeneous group of conditions character...
Background: Combined immunodeficiencies (CIDs) are diseases of defective adaptive immunity with dive...
Inborn errors of immunity (IEI), also referred to as primary immunodeficiencies (PID), are disorders...
During the last years, studies investigating the intriguing association between immunodeficiency and...
Monogenic autoinflammatory syndromes (MAISs) are caused by innate immune system dysregulation leadin...
Monogenic autoinflammatory syndromes (MAISs) are caused by innate immune system dysregulation leadin...
This work focuses on the identification of disease-causing genetic variants in paediatric patients w...
International audience: Monogenic autoinflammatory diseases are a group of hereditary disorders char...