Clinical features of patients with homozygous complement C4A or C4B deficiency

Introduction Homozygous deficiencies of complement C4A or C4B are detected in 1-10% of populations. In genome-wide association studies C4 deficiencies are missed because the genetic variation of C4 is complex. There are no studies where the clinical presentation of these patients is analyzed. This study was aimed to characterize the clinical features of patients with homozygous C4A or C4B deficiency. Material and methods Thirty-two patients with no functional C4A, 87 patients with no C4B and 120 with normal amount of C4 genes were included. C4A and C4B numbers were assessed with genomic quantitative real-time PCR. Medical history was studied retrospectively from patients' files. Results Novel associations between homozygous C4A deficiency and lymphoma, coeliac disease and sarcoidosis were detected. These conditions were present in 12.5%, (4/32 in patients vs. 0.8%, 1/120, in controls, OR = 17.00, 95%Cl = 1.83-158.04, p = 0.007), 12.5% (4/32 in patients vs. 0%, 0/120 in controls, OR = 1.14, 95%Cl = 1.00-1.30, p = 0.002) and 12.5%, respectively (4/32 in patients vs. 2.5%, 3/120 in controls, OR = 5.571, 95%Cl = 1.79-2.32, p = 0.036). In addition, C4A and C4B deficiencies were both associated with adverse drug reactions leading to drug discontinuation (34.4%, 11/32 in C4A-deficient patients vs. 14.2%, 17/120 in controls, OR = 3.174, 95%Cl = 1.30-7.74, p = 0.009 and 28.7%, 25/87 in C4B-deficient patients, OR = 2.44, 95%Cl = 1.22-4.88, p = 0.010). Conclusion This reported cohort of homozygous deficiencies of C4A or C4B suggests that C4 deficiencies may have various unrecorded disease associations. C4 gene should be considered as a candidate gene in studying these selected disease associations.Peer reviewe

Comparison of Health and Risk Factors of Older, Working-age Australians, Italians and Italian-born Migrants to Australia, with Data from an Italian (PASSI), and an Australian (SAMSS) Risk Factor Surveillance System

Italian-born migrants (post-WWII) are the largest non-English-speaking background migrant group in South Australia. A cross-sectional, inter-country comparison using independent samples (40â\u80\u9369 years of age) from two (one in Australia, one in Italy) similar risk factor and chronic disease surveillance systems. None of the three groups (Italians, Australian-born and Italian-born Australians) had definitively worse health although the Italians had high rates for four of the seven risk factors reported (current high blood pressure, current high cholesterol, current smoking, eating less than five fruit and/or vegetables per day) than Australian-born and Italian-born Australians. Italian-born Australians had higher rates for insufficient physical activity, overweight/obese, poor self-reported health and diabetes. Australian respondents were more likely to report having two or more drinks of alcohol per day. Issues facing an ageing population require appropriate health care needs and an assessment of structural or cultural barriers to health services

Migrant health in Italy: a better health status difficult to maintain-country of origin and assimilation effects studied from the Italian risk factor surveillance data

Many studies on migrant health have focused on aspects of morbidity and mortality, but very few approach the relevant issues of migrants' health considering behavioral risk factors. Previous studies have often been limited methodologically because of sample size or lack of information on migrant country of origin. Information about risk factors is fundamental to direct any intervention, particularly with regard to non-communicable diseases that are leading causes of death and disease. Thus, the main focus of our analysis is the influence of country of origin and the assimilation process