Inborn Errors of Immunity in Children with Autoimmune and Allergic Complaints: A Single Center Experience from Diagnosis to Treatment

Abstract

Inborn errors of immunity (IEI) associated with immune dysregulation are not sufficiently addressed in shared recommendation, resulting in delayed diagnosis and high morbidity. The availability of precision medicine for some of these immune defects makes it urgent to evaluate effective strategies to diagnose and treat such defects before the occurrence of severe complications. A diagnosis of an IEI in these patients enabled the use of a more specific treatment in most cases, and these have the potential to prevent further disease progression. We studied immune dysregulation diseases in 30 patients with autoimmune or allergic phenotypes, exploiting data from clinics and immunophenotype, genetic and transcriptome investigations, and 6 of them were diagnosed with a monogenic disorder. Our results confirm that a non-negligible number of children with IEIs may present with signs and symptoms of immune dysregulation and share many features with common multifactorial immune conditions. Reaching a genetic diagnosis becomes more likely in the presence of multiple clinical manifestations, especially when in association with abnormalities of lymphocytes subsets and/or immunoglobulins levels. Moreover, 5 of 6 patients that obtained a diagnosis of monogenic disorder received precision therapy, in four cases with a good or moderate response.

Natural language processing of clinical notes enables early inborn error of immunity risk ascertainment

“…Given that diagnostic delays remain a major obstacle leading to suboptimal outcomes and that early diagnosis is linked to reduced morbidity and more precise therapies, these efforts advance the field in important ways. 4 , 33 , 34 …”