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. 2019 Dec 11;40(1):203–210. doi: 10.1007/s10875-019-00714-4

Table 3.

Reported healthy individuals with MASP-2 deficiency due to homozygosity for the p.D120G mutation

Reported MASP2 p.D120G homozygous individuals Year Ref
1. Adult British individual (from a study of 314 family-based trios with offspring affected with psoriasis) 2005 [19]
2. Adult Spanish individual (from a control group of 868 healthy adults in a study of adult CAP patients, adult SLE patients, and children with RRI) 2006 [9]
3. Adult Spanish individual (from a control group of 868 healthy adults in a study of adult CAP patients, adult SLE patients, and children with RRI) 2006 [9]
4. Adult Spanish individual (from a control group of 805 healthy adults in a study of adult CAP patients and patients without relevant infectious diseases) 2008 [7]
5. Adult Italian individual (from a control group of 162 healthy individuals for a study of adult patients with HC) 2008 [17]
6. Adult Polish individual (from a study of 179 children with dental caries) 2014 [20]
7. Adult Polish individual (from a control group of 276 healthy individuals for a study of TB patients) 2015 [13]
8. Pre-term Polish newborn (from a control group of 273 healthy newborns for a study of children with sepsis and non-septic infected babies) 2016 [21]
9. Pediatric Spanish individual (from a control group of children with no history of respiratory diseases) (current study)

CAP community-acquired pneumonia, SLE systemic lupus erythematosus, RRI recurrent respiratory infection, HC hepatocellular carcinoma, TB tuberculosis