AUTHOR=Caldirola María Soledad , Daiana Espantoso , Gomez Raccio Andrea Cecilia , García Ana Luz , Bernacchia Agustin , Medín Martín , Gaillard Maria Isabel , Di Giovanni Daniela TITLE=Case Report: Common variable immunodeficiency phenotype and granulomatous–lymphocytic interstitial lung disease with a novel SOCS1 variant JOURNAL=Frontiers in Pediatrics VOLUME=12 YEAR=2024 URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2024.1423858 DOI=10.3389/fped.2024.1423858 ISSN=2296-2360 ABSTRACT=

Common variable immunodeficiency is a heterogeneous symptomatic group of inborn errors of immunity that mainly affects antibodies production and/or function, predisposing patients to recurrent and severe infections. More than half of them usually develop autoimmunity, lymphoproliferation, enteropathy, and malignancies. Among these conditions, chronic lung disease such as granulomatous–lymphocytic interstitial lung disease is one of the leading causes of death in these patients. Recently, many genes that play a key role in B and T cells’ development, maintenance, and/or cytokines signaling pathways have been implicated in the pathogenesis of the disease. Here, we describe the first Argentinian patient presenting with common variable immunodeficiency and granulomatous–lymphocytic interstitial lung disease, harboring two in cis heterozygous variants in the SOCS1 gene.