Case Report: Common variable immunodeficiency phenotype and granulomatous–lymphocytic interstitial lung disease with a novel SOCS1 variant

TL;DR

This case report describes a patient with a rare immune disorder and lung disease caused by a new genetic variant.

Contribution

The study reports a novel SOCS1 gene variant in a patient with common variable immunodeficiency and lung disease.

Findings

The patient had a novel SOCS1 gene variant associated with common variable immunodeficiency.

The patient developed granulomatous–lymphocytic interstitial lung disease, a severe complication of the condition.

This is the first reported case of such a variant in an Argentinian patient.

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.

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