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

α1-抗胰蛋白酶缺乏症(AATD)合并常见变异型免疫缺陷病(CVID):病例报告

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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.

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