Recent advances in the field of inborn errors of immunity (IEI) have been wide in scope, including progress in mechanisms of disease, diagnosis and management. New gene defects affecting the immune response continue to be reported, as many as 26 in the year 2020. It was noted that the presentation of IEI might not include recurrent infections in 9% of cases, and that current diagnostic methods can identify molecular causes in 92% of severe combined immunodeficiency patients. Progress in immunopathogenesis explained mechanisms leading to symptoms of autosomal recessive hyper IgE syndrome. There was an emphasis on research in primary antibody deficiencies. The benefit of antibiotic prophylaxis to reduce the frequency of infections was demonstrated in these patients. The regimen of rituximab and azathioprine or mycophenolate was proven effective for chronic granulocytic interstitial pneumonia. The efficacy and adverse events of hematopoietic stem cell transplant in different IEI conditions were reported, as well as different strategies to improve outcomes, supporting its use in immunodeficiency and immunodysregulatory syndromes. The recent pandemic of coronavirus disease 2019 (COVID19) affected IEI patients, in particular those with deficiency in the interferon-mediated activation of the immune response. Initial data suggest that COVID19 vaccines might elicit anti-COVID19 neutralizing antibody responses in some patients with IEI conditions.
Inborn errors of immunity: recent progress.