. 2023 Mar 13;43:101838. doi: 10.1016/j.rmcr.2023.101838

Table 1.

Summary of three patients with null mutations in the SERPINA1 gene and alpha-1 antitrypsin deficiency.

Gender	Case 1	Case 2	Case 3
Gender	male	male	female
Age at diagnosis (yr)	73	47	58
Initial diagnosis of AAT deficiency	03/2015	06/2016	11/2016
AAT Level [g/L]	0.1–0.2	<0.1	0.1
Mutation	Pi*Z/c.1072C > T	Pi*Z/c.10del	Pi*Z/c.-5+1G > A and c.-472G > A
Allele	PiQ0_{Heidelberg II}	PiQ0_{Heidelberg III}	PiQ0_{Heidelberg IV}
Pulmonary emphysema	Bilateral centri- to panlobular pulmonary emphysema with multiple increasing bullae ventrobasal, Incomplete fissures	Severely heterogeneous centri- to panlobular pulmonary emphysema with lower lobe emphasis	Basally accentuated panlobular (apical mixed-shaped) pulmonary emphysema
Onset of symptoms	Progressive DOE after bronchopulmonary infection −1996, Increased after a bilateral pulmonary embolism - 2008, Progressive DOE since 2015	Progressive DOE Since 09/2015	Progressive DOE Since 10/2016
Further Diagnoses	COPD Gold III B, 3-vessel-coronary heart disease	COPD Gold IV D	COPD Gold II B, Obstructive sleep apnea, Obesity grade II
Smoking History(cumulative)	4 pack-years until 1993	40 pack-years until 2019	25 pack-years until 2000

AAT = alpha-1 antitrypsin; DOE = dyspnea on exertion; COPD = chronic obstructive pulmonary disease.