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Co-occurrence of Alpha-1 Antitrypsin Deficiency (AATD) and Common Variable Immunodeficiency (CVID): A Case Report

Year: 2025

Type: article

Abstract: Alpha-1 antitrypsin deficiency (AATD) and common variable immunodeficiency (CVID) are distinct disorders, and their co-occurrence is rare. We report a 47-year-old man with a history of smoking and chronic obstructive pulmonary disease (COPD), diagnosed with the PI*MZ genotype of AATD and treated with human alpha1-proteinase inhibitor (PROLASTIN-C®, Grifols Therapeutics, Clayton, NC, USA). Despite therapy, he experienced recurrent respiratory infections and pneumonia. Further evaluation revealed hypogammaglobulinemia and immune dysregulation consistent with CVID, leading to bronchiectasis. Combined treatment with alpha-1 antitrypsin (AAT) replacement and intravenous immunoglobulin (IVIG) was initiated, emphasizing the importance of comprehensive genetic and immunologic evaluation and tailored therapy in complex respiratory cases. Further studies are needed to clarify the relationship between AATD and CVID and optimize management strategies.

Source: Cureus

DOI: 10.7759/cureus.96755

Authors: Aysun Aynaci, Fatma Merve Tepetam, Erdogan Cetinkaya, Nihal Yildirim, Şeyma Özden

Language: English

Topic: Immunodeficiency and Autoimmune Disorders

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4416169820

FWCI:

Cites: 9

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