Alpha-1 antitrypsin (AAT) deficiency is an autosomal codominant disorder caused by gene mutations. PI*Z and PI*S mutations commonly underlie this deficiency, but rarer homozygous PI* (Q0) mutations may result in a complete loss of AAT. Such rare mutations lead to severe AAT deficiency and early onset of lung disease. We present a case of a 35-year-old female never-smoker born to consanguineous parents who developed severe panlobular emphysema and end-stage respiratory insufficiency requiring lung transplantation. Subsequent genetic testing identified her as homozygous for a novel mutation-here named Q0 based on the region of the primary carrier's origin-which resulted in undetectable levels of the AAT protein.
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| http://dx.doi.org/10.15326/jcopdf.2024.0518 | DOI Listing |
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