Immunogenetic Characterization of Cuban Patients with S and Z Allelic Variants of Alpha-1-Antitrypsin Enzyme
Abstract
Introduction: Alpha-1 antitrypsin deficiency is an autosomal recessive genetic disease. Growing evidence links its S and Z allelic variants with immune system disorders and multisystem clinical expression.
Objective: To describe the clinical-immunogenetic characteristics in a group of Cuban patients with S and Z allelic variants of the alpha-1 antitrypsin enzyme.
Methods: Descriptive cross-sectional study, case series type. Twenty-seven patients (18 females and 9 males) attended jointly at the Immunogenetics Consultations of the National Center of Medical Genetics and at the Pneumology Department of the "Hermanos Ameijeiras" Clinical Surgical Teaching Hospital were studied during the period January 2020 – June 2025. Clinical-genetic delineation and autoimmunity studies were performed.
Results: The MS genotype of the alpha-1 antitrypsin enzyme predominated (70.4 %), followed by MZ (18.5 %), SS (7.4%), and SZ (3.7 %). Clinical manifestations were distributed mainly in the respiratory system (50.9 %), immune system (23.2 %), skin (10.1 %), and digestive system (10.1 %). Seven patients had a diagnosis of a specific autoimmune disease, and another eight patients presented positivity in some autoimmunity parameters.
Conclusions: In patients with immune system dysregulation, especially with respiratory manifestations, severe atopic dermatitis, hypertransaminasemia, or autoimmune diseases, it is recommended to include active screening for the S and Z alleles of the alpha-1 antitrypsin enzyme as part of the diagnostic protocol.
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