February 2026 in “Immunity Inflammation and Disease” This study evaluated 386 patients with inborn errors of immunity and found that over half exhibited cutaneous, ocular, or hair manifestations, with bacterial skin infections and eczema being particularly prevalent. These findings may aid early diagnosis, especially in pediatric cases.
December 2025 in “Asthma Allergy Immunology” This study found that among pediatric patients with inborn errors of immunity, severe COVID-19 was linked to chronic lung disease, hypogammaglobulinemia, and musculoskeletal abnormalities, with chronic pulmonary illness being a major risk factor, while long-term effects included fatigue, hair loss, and red eye.
5 citations
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December 2022 in “Genes” This review discusses the host genetic factors influencing COVID-19 susceptibility and pathogenesis, highlighting genetic variations that affect viral entry and immune responses, but reports no new experimental results.
This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.
252 citations
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April 2009 in “Seminars in Cell & Developmental Biology” This review discusses the complex role of the immune system in tissue repair and regeneration, highlighting its positive and negative influences but reports no new clinical findings.