Kawasaki disease(KD)is a medium vessel vasculitis with predilection to cause coronary artery abnormalities.KD is now the most common cause of acquired heart disease in developed countries.Thrombocytosis is consistentl...Kawasaki disease(KD)is a medium vessel vasculitis with predilection to cause coronary artery abnormalities.KD is now the most common cause of acquired heart disease in developed countries.Thrombocytosis is consistently found in patients with KD,usually in 2nd to 3rd week of illness.Thrombocytopenia has occasionally been reported in the acute phase of KD.An increase or decrease in platelet number in patients with KD was initially considered to be a benign phenomenon.However,recent literature on platelet biology in KD has suggested that platelets are not only increasing but are rather activated.This phenomenon has been found to increase the risk of thrombosis in these patients.Similarly a fall in platelet counts during acute stage of KD has also been found to be associated with increased severity of disease.In this review,we update on the current best understanding about pathogenic role of platelets in patients with KD.展开更多
Activated Phosphoinositide 3-kinase d syndrome(APDS)is a newly recognised primary immunodeficiency disease.It has currently been a hot topic of clinical research and new data are emerging regarding its pathogenesis,cl...Activated Phosphoinositide 3-kinase d syndrome(APDS)is a newly recognised primary immunodeficiency disease.It has currently been a hot topic of clinical research and new data are emerging regarding its pathogenesis,clinical manifestations and treatment.Patients with APDS syndrome have significant autoimmune manifestations and lymphoproliferation.It is important to differentiate APDS from the usual polygenic CVID in view of the availability of targeted therapy like mTOR inhibitors such as Rapamycin and selective PI3Kd inhibitors.We provide a comprehensive review on this interesting disorder focusing light on its etiology,genetic research and emerging therapy.展开更多
Common variable immunodeficiency disorders(CVID),a heterogeneous group of inborn errors of immunity,is the most common symptomatic primary immunodeficiency disorder.Patients with CVID have highly variable clinical pre...Common variable immunodeficiency disorders(CVID),a heterogeneous group of inborn errors of immunity,is the most common symptomatic primary immunodeficiency disorder.Patients with CVID have highly variable clinical presentation.With the advent of whole genome sequencing and genome wide association studies(GWAS),there has been a remarkable improvement in understanding the genetics of CVID.This has also helped in understanding the pathogenesis of CVID and has drastically improved the management of these patients.A multiomics approach integrating the DNA sequencing along with RNA sequencing,proteomics,epigenetic and metabolomics profile is the need of the hour to unravel specific CVID associated disease pathways and novel therapeutic targets.In this review,we elaborate various techniques that have helped in understanding the genetics of CVID.展开更多
Primary Immunodeficiency Diseases(PIDs)are increasingly being reported across the World.Several advances have been made in the diagnostic and therapeutic research related to PIDs.With increasing awareness,the field of...Primary Immunodeficiency Diseases(PIDs)are increasingly being reported across the World.Several advances have been made in the diagnostic and therapeutic research related to PIDs.With increasing awareness,the field of PIDs has rapidly evolved in Asia as well.In this review,we summarize the progress that has been made in the field of PIDs in Asian countries;major limitations and challenges faced by the clinicians working in this field in Asia;difference in spectrum of PIDs in Asia from rest of the World;current state of diagnostic and treatment facilities available in various countries in Asia and the future prospects of these diseases in the continent.展开更多
Hereditary angioedema(HAE)is an uncommon genetic disorder characterized by recurrent episodes of edema involving subcutaneous tissue and submucosa.The pathogenesis of HAE reflects an intricate coordinated regulation o...Hereditary angioedema(HAE)is an uncommon genetic disorder characterized by recurrent episodes of edema involving subcutaneous tissue and submucosa.The pathogenesis of HAE reflects an intricate coordinated regulation of components of complement,kinin and hemostatic pathway.Till date,mutations in 4 different genes have been identified to cause HAE which includes serine protease inhibitor G1(SERPING1),factor XII(F12),plasminogen(PLG)and angiopoietin 1(ANGPT 1).These mutations lead to increased bradykinin 2 receptor mediated signalling via increased production of bradykinin except mutations in ANGPT1 gene that disturbs the cytoskeletal assembly of vascular endothelial cells.In this review we aim to summarize the recent advances in the pathogenesis and genetics of HAE.We also provide an overview of possible future prospects in the identification of new genetic defects in HAE.展开更多
文摘Kawasaki disease(KD)is a medium vessel vasculitis with predilection to cause coronary artery abnormalities.KD is now the most common cause of acquired heart disease in developed countries.Thrombocytosis is consistently found in patients with KD,usually in 2nd to 3rd week of illness.Thrombocytopenia has occasionally been reported in the acute phase of KD.An increase or decrease in platelet number in patients with KD was initially considered to be a benign phenomenon.However,recent literature on platelet biology in KD has suggested that platelets are not only increasing but are rather activated.This phenomenon has been found to increase the risk of thrombosis in these patients.Similarly a fall in platelet counts during acute stage of KD has also been found to be associated with increased severity of disease.In this review,we update on the current best understanding about pathogenic role of platelets in patients with KD.
文摘Activated Phosphoinositide 3-kinase d syndrome(APDS)is a newly recognised primary immunodeficiency disease.It has currently been a hot topic of clinical research and new data are emerging regarding its pathogenesis,clinical manifestations and treatment.Patients with APDS syndrome have significant autoimmune manifestations and lymphoproliferation.It is important to differentiate APDS from the usual polygenic CVID in view of the availability of targeted therapy like mTOR inhibitors such as Rapamycin and selective PI3Kd inhibitors.We provide a comprehensive review on this interesting disorder focusing light on its etiology,genetic research and emerging therapy.
文摘Common variable immunodeficiency disorders(CVID),a heterogeneous group of inborn errors of immunity,is the most common symptomatic primary immunodeficiency disorder.Patients with CVID have highly variable clinical presentation.With the advent of whole genome sequencing and genome wide association studies(GWAS),there has been a remarkable improvement in understanding the genetics of CVID.This has also helped in understanding the pathogenesis of CVID and has drastically improved the management of these patients.A multiomics approach integrating the DNA sequencing along with RNA sequencing,proteomics,epigenetic and metabolomics profile is the need of the hour to unravel specific CVID associated disease pathways and novel therapeutic targets.In this review,we elaborate various techniques that have helped in understanding the genetics of CVID.
文摘Primary Immunodeficiency Diseases(PIDs)are increasingly being reported across the World.Several advances have been made in the diagnostic and therapeutic research related to PIDs.With increasing awareness,the field of PIDs has rapidly evolved in Asia as well.In this review,we summarize the progress that has been made in the field of PIDs in Asian countries;major limitations and challenges faced by the clinicians working in this field in Asia;difference in spectrum of PIDs in Asia from rest of the World;current state of diagnostic and treatment facilities available in various countries in Asia and the future prospects of these diseases in the continent.
文摘Hereditary angioedema(HAE)is an uncommon genetic disorder characterized by recurrent episodes of edema involving subcutaneous tissue and submucosa.The pathogenesis of HAE reflects an intricate coordinated regulation of components of complement,kinin and hemostatic pathway.Till date,mutations in 4 different genes have been identified to cause HAE which includes serine protease inhibitor G1(SERPING1),factor XII(F12),plasminogen(PLG)and angiopoietin 1(ANGPT 1).These mutations lead to increased bradykinin 2 receptor mediated signalling via increased production of bradykinin except mutations in ANGPT1 gene that disturbs the cytoskeletal assembly of vascular endothelial cells.In this review we aim to summarize the recent advances in the pathogenesis and genetics of HAE.We also provide an overview of possible future prospects in the identification of new genetic defects in HAE.
