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Table 2 Summary of clinical details of Q0 individuals

From: Identification and characterisation of eight novel SERPINA1 Null mutations

Case Genotype AAT (g/L) Age at diagnosis (years) Proband/kinship to proband Clinical Pack/year
1.1 – IA M1/Q0cork 0.70 43 proband cough, dyspnoea 15
2.1 - IA M3/Q0perugia 0.83 60 proband emphysema 52
2.1 - IB M3/Q0perugia 0.80 54 brother healthy 22
3.1 – IA M1/Q0brescia 0.70 73 mother chronic bronchitis 0
3.1 – IB M1/Q0brescia 0.71 71 father healthy 0
3.1 – IIA Q0brescia/Q0brescia Undetectable 41 proband emphysema 3
3.1 – IIB Q0brescia/Q0brescia Undetectable 37 proband emphysema 6
3.1 – IIIA M1/Q0brescia 0.70 7 daughter healthy 0
3.1 – IIIB M1/Q0brescia 1.08 10 daughter healthy 0
3.2 - IA Z/Q0brescia 0.20 41 proband emphysema 20
4.1 - IA S/Q0torino 0.71 53 proband emphysema 15
5.1 – IA M2/Q0cosenza 0.80 63 aunt dyspnoea 0
5.1 – IB M2/Q0cosenza 0.85 67 mother asthma 0
5.1 – IIA S/Q0cosenza 0.60 34 proband healthy 4
5.1 – IIB S/Q0cosenza 0.71 43 sister healthy 0
6.1 – IA M2/Q0pordenone 0.55 37 father healthy 0
6.1 – IIA M3/Q0pordenone 0.81 6 brother healthy 0
6.1 – IIB M1/Q0pordenone 0.77 0.5 proband cough 0
6.2 – IA M1/Q0pordenone 0.91 54 proband emphysema ex
6.2 – IIA M1/Q0pordenone 0.78 34 nephew healthy 0
6.2 – IIB M1/Q0pordenone 0.66 24 nephew healthy 0
6.3 – IA M1/Q0pordenone 0.47 69 proband emphysema unknown
6.3 – IIA M1/Q0pordenone 0.81 37 son healthy 0.1
6.4 – IA M3/Q0pordenone 1.30 38 mother healthy (pregnant) 0
6.4 – IIA M2/Q0pordenone 0.78 6 proband healthy 0
7.1 – IA M1/Q0lampedusa 0.62 87 mother emphysema 0
7.1 – IIA M1/Q0lampedusa 0.76 57 sister healthy 0
7.1 – IIB M1/Q0lampedusa 0.80 61 sister healthy 0
7.1 – IIC M1/Q0lampedusa 0.73 55 sister healthy 15
7.1 – IID M1/Q0lampedusa 0.74 51 sister chronic bronchitis 60
7.1 – IIE M1/Q0lampedusa 0.71 48 sister chronic bronchitis 0
7.1 – IIF Q0lampedusa/Q0lampedusa <0.1 46 proband emphysema, asthma 0
7.1 – IIIA M1/Q0lampedusa 1.00 30 niece healthy 0
7.1 – IIIB M2/Q0lampedusa 0.84 39 nephew healthy 10
7.1 – IIIC M1/Q0lampedusa 0.64 33 nephew healthy 24
7.1– IIID M1/Q0lampedusa 0.74 22 nephew healthy 1.5
7.1 – IIIE M1/Q0lampedusa 0.67 15 nephew healthy 0
8.1 – IA M1/Q0dublin 0.74 70 proband bronchiectasis 1
8.1 – IIA M1/Q0dublin 0.64 40 son healthy 0
8.1 – IIB M1/Q0dublin 0.70 34 son recurrent LRTIs 1
8.1 – IIC M1/Q0dublin 1.11 39 daughter healthy 0
  1. Index cases are written in bold.