Characterization of the Mmalton carrier’s cohort within the EARCO (European Alpha- 1 Antitrypsin Research Collaboration) registry

Table 5 Previous findings in case reports in alpha 1 anti trypsin deficiency associated with Mmalton

Number of patients (n)	Gender (n)	Age (min–max)	AAT levels (mg/dl)	Genotypes	n	Lung disease	n	Liver disease	n		Paper
16	Male (7) Female (9)	5–86	16–19	PI*Mmalton/Mmalton	2	Severe Obstruction	.1	Cirrhosis	2		Pulmonology 2018; 24: 48–49 [28]
			19	PI*Z/Mmalton	1	Severe Obstruction	.1	Cirrhosis	2
			25.9	PI*S/Mmalton	1	Moderate obstruction	2
			66—94	PI*M/Mmalton	12	Mild obstruction	2
7	Male (5) Female (2) 2	17–73	30	PI*Z/Mmalton	1	Severe Obstruction	1	NA			Thorax 41(7):568–570 [29]
7	Male (5) Female (2) 2	17–73	80–130	PI*M/Mmalton	6			NA			Thorax 41(7):568–570 [29]
13	Male (8) Female (5)	NA	NA	PI*Mmalton/Mmalton	3	Emphysema	2	Cirrhosis/HCC		1	Gastroenterology 93(1):181–187 [30]
13	Male (8) Female (5)	NA	NA	PI*M/Mmalton	10	Emphysema	3				Gastroenterology 93(1):181–187 [30]
4	Male (1) Female (3)	37–80	34	PI*Mmalton/Mmalton	1			Cirrhosis		1	Orphanet J. Rare Dis. 10:130 [31]
			22–33	PI*Z/Mmalton	2	Emphysema/COPD	1/1
			69	PI*M/Mmalton	1
3	Male (3)	43–87	64–69	PI*M/Mmalton	3	Asthma	1	NA			Respirology Case Reports, 8(3), e00528 [12]
3	Male (3)	43–87	64–69	PI*M/Mmalton	3	Emphysema/Pneumothorax	1	NA			Respirology Case Reports, 8(3), e00528 [12]

Abbreviations: COPD Chronic Obstructive Pulmonary Disease, HCC Hepatocellular Carcinoma, NA Non Applicable

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