Autoimmunity and immunodeficiency were previously considered to be mutually exclusive conditions.However,an increased understanding of the complex immune regulatory systems and signaling mechanisms,coupled with the ap...Autoimmunity and immunodeficiency were previously considered to be mutually exclusive conditions.However,an increased understanding of the complex immune regulatory systems and signaling mechanisms,coupled with the application of genetic analysis,has demonstrated the complex relationships between the two kinds of diseases.1 In recent years,several mild forms of primary immunodeficiencies have been discovered,presenting with opportunistic infections overlapping autoimmunity and/or allergy late in life.展开更多
Here we reported a SYNC nonsense variant in a Chinese family with hypertrophic cardiomyopathy(HCM)and firstly linked syncoilin(SYNC)to HCM.HCM is an inherited cardiovascular disease,affecting approximately 1:500 peopl...Here we reported a SYNC nonsense variant in a Chinese family with hypertrophic cardiomyopathy(HCM)and firstly linked syncoilin(SYNC)to HCM.HCM is an inherited cardiovascular disease,affecting approximately 1:500 people,that is characterized by thickening of left ventricle(LV),especially the interventricular septum(IVS),and diastolic ventricular failure.1 To date,more than 15 genes of two groups underlying HCM have been identified.1 About 35%e60%HCM patients present autosomal dominant inheritance and carry a pathogenic variant in sarcomeric protein genes,such as b-myosin heavy chain(MYH7),myosin binding protein C(MYBPC3),and Troponin T(TNNT2).1 In addition,non-sarcomeric genetic causes of disease have also been observed in about 25%HCM patients,mainly related to metabolic storage diseases,mitochondrial cardiomyopathies,inborn errors of metabolism etc.展开更多
基金This study was supported by the National Natural Science Foundation of China(81770002 to HL,81470445 to Z-p.T.,81900002 to T.G.,and 81570288 to Y-f.Y.)the Planned Science and Technology Project of Hunan Province,China(2015JC3032 to Y-f.Y.)+1 种基金the Science and Technology Program of Changsha,China(kq1901120 to H.L.)the National Key Clinical Specialty Construction Projects of China.
文摘Autoimmunity and immunodeficiency were previously considered to be mutually exclusive conditions.However,an increased understanding of the complex immune regulatory systems and signaling mechanisms,coupled with the application of genetic analysis,has demonstrated the complex relationships between the two kinds of diseases.1 In recent years,several mild forms of primary immunodeficiencies have been discovered,presenting with opportunistic infections overlapping autoimmunity and/or allergy late in life.
基金This study was supported by National Natural Science Foundation of China(No.82000427,81970268 and 81470445)Natural Science Foundation of Hunan province(No.2020JJ5785)。
文摘Here we reported a SYNC nonsense variant in a Chinese family with hypertrophic cardiomyopathy(HCM)and firstly linked syncoilin(SYNC)to HCM.HCM is an inherited cardiovascular disease,affecting approximately 1:500 people,that is characterized by thickening of left ventricle(LV),especially the interventricular septum(IVS),and diastolic ventricular failure.1 To date,more than 15 genes of two groups underlying HCM have been identified.1 About 35%e60%HCM patients present autosomal dominant inheritance and carry a pathogenic variant in sarcomeric protein genes,such as b-myosin heavy chain(MYH7),myosin binding protein C(MYBPC3),and Troponin T(TNNT2).1 In addition,non-sarcomeric genetic causes of disease have also been observed in about 25%HCM patients,mainly related to metabolic storage diseases,mitochondrial cardiomyopathies,inborn errors of metabolism etc.
