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| 1 | Platelets in Kawasaki disease:Is this only a numbers game or something beyond?显示文摘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. | Kanika Arora Sandesh Guleria Ankur Kumar Jindal Amit Rawat Surjit Singh | 2020 | Genes & Diseases2020，7，1： | 9 |
| 2 | Recent advances in chronic granulomatous disease显示文摘Chronic granulomatous disease(CGD)is an inherited defect of phagocyte function due to defective NADPH oxidase.Patients with CGD are not able to effectively clear the infections because of the defect in the phagocyte production of oxygen free radicals and are prone to recurrent bacterial and fungal infections.Inflammatory complications are also noted in CGD such as colitis,non-infective granulomas causing gastrointestinal or urinary tract obstruction,hemophagocytic lymphohistiocytosis,and arthritis.Studies on toll-like receptor pathways and neutrophil extracellular traps in CGD have shed light on the role of NADPH oxidase in the innate immunity and pathogenesis of infections in CGD.Some reports also indicate a reduction of memory B cells and defective production of functional antibodies in CGD.Though the exact mechanisms for non-infective inflammatory complications in CGD are not yet clear,studies on efferocytosis and defective autophagy with inflammasome activation have made a substantial contribution to our understanding of the pathogenesis of inflammation in CGD.We also discuss the clinical and molecular features of p40phox defects and a newer genetic defect,EROS.Clinical phenotypes of X-linked carriers of CYBB are also discussed. | Gummadi Anjani Pandiarajan Vignesh Vibhu Joshi Jitendra Kumar Shandilya Dharmagat Bhattarai Jyoti Sharma Amit Rawat | 2020 | Genes & Diseases2020，7，1： | 6 |
| 3 | An updated review on activated PI3 kinase delta syndrome(APDS)显示文摘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. | Ankita Singh Vibhu Joshi Ankur Kumar Jindal Babu Mathew Amit Rawat | 2020 | Genes & Diseases2020，7，1： | 4 |
| 4 | Recent advances in elucidating the genetics of common variable immunodeficiency显示文摘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. | Vaishali Aggarwal Aaqib Zaffar Banday Ankur Kumar Jindal Jhumki Das Amit Rawat | 2020 | Genes & Diseases2020，7，1： | 4 |
| 5 | An updated review on phenocopies of primary immunodeficiency diseases显示文摘Primary immunodeficiency diseases(PIDs)refer to a heterogenous group of disorders characterized clinically by increased susceptibility to infections,autoimmunity and increased risk of malignancies.These group of disorders present with clinical manifestations similar to PIDs with known genetic defects but have either no genetic defect or have a somatic mutation and thus have been labelled as“Phenocopies of PIDs”.These diseases have been further subdivided into those associated with somatic mutations and those associated with presence of auto-antibodies against various cytokines.In this review,we provide an update on clinical manifestations,diagnosis and management of these diseases. | Ankita Singh Ankur K.Jindal Vibhu Joshi Gummadi Anjani Amit Rawat | 2020 | Genes & Diseases2020，7，1： | 3 |
| 6 | Genetics of severe combined immunodeficiency显示文摘Severe Combined Immunodeficiency(SCID)is an inherited group of rare,lifethreatening disorders due to the defect in T cell development and function.Clinical manifestations are characterised by recurrent and severe bacterial,viral,and fungal opportunistic infections that start from early infancy period.Haematopoietic stem cell transplantation(HSCT)is the treatment of choice.The pattern of inheritance of SCID may be X-linked or autosomal recessive.Though the diagnosis of SCID is usually established by flow cytometry-based tests,genetic diagnosis is often needed for genetic counselling,prognostication,and modification of pre-transplant chemotherapeutic agents.This review aims to highlight the genetic aspects of SCID. | Rajni Kumrah Pandiarajan Vignesh Pratap Patra Ankita Singh Gummadi Anjani Poonam Saini Madhubala Sharma Anit Kaur Amit Rawat | 2020 | Genes & Diseases2020，7，1： | 2 |
| 7 | Leukocyte adhesion defect:Where do we stand circa 2019?显示文摘Migration of polymorphonuclear leukocytes from bloodstream to the site of inflammation is an important event required for surveillance of foreign antigens.This trafficking of leukocytes from bloodstream to the tissue occurs in several distinct steps and involves several adhesion molecules.Defect in adhesion of leukocytes to vascular endothelium affecting their subsequent migration to extravascular space gives rise to a group of rare primary immunodeficiency diseases(PIDs)known as Leukocyte Adhesion Defects(LAD).Till date,four classes of LAD are discovered with LAD I being the most common form.LAD I is caused by loss of function of common chain,cluster of differentiation(CD)18 of β2 integrin family.These patients suffer from life-threatening bacterial infections and in its severe form death usually occurs in childhood without bone marrow transplantation.LAD II results from a general defect in fucose metabolism.These patients suffer from less severe bacterial infections and have growth and mental retardation.Bombay blood group phenotype is also observed in these patients.LAD III is caused by abnormal integrin activation.LAD III patients suffer from severe bacterial and fungal infections.Patients frequently show delayed detachment of umbilical cord,impaired wound healing and increased tendency to bleed.LAD IV is the most recently described class.It is caused by defects in β2 and α4β1 integrins which impairs lymphocyte adhesion.LAD IV patients have monogenic defect in cystic-fibrosis-transmembraneconductance-regulator(CFTR)gene,resulting in cystic fibrosis.Pathophysiology and genetic etiology of all LAD syndromes are discussed in detail in this paper. | Jhumki Das Avinash Sharma Ankur Jindal Vaishali Aggarwal Amit Rawat | 2020 | Genes & Diseases2020，7，1： | 2 |
| 8 | Current status and prospects of primary immunodeficiency diseases in Asia显示文摘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. | Rakesh Kumar Pilania Himanshi Chaudhary Ankur Kumar Jindal Amit Rawat Surjit Singh | 2020 | Genes & Diseases2020，7，1： | 1 |
| 9 | An update on the genetics and pathogenesis of hereditary angioedema显示文摘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. | Aaqib Zaffar Banday Anit Kaur Ankur Kumar Jindal Amit Rawat Surjit Singh | 2020 | Genes & Diseases2020，7，1： | 1 |
| 10 | Adipocytokine profile in children with Kawasaki disease at a mean follow-up period of 5.5 years: A study from North India显示文摘BACKGROUND Kawasaki disease(KD)is an acute self-limited vasculitis with a predilection for coronary arteries.Children with KD may have altered lipid metabolism and abnormal lipid profiles that may last for prolonged periods.However,there is a paucity of literature on the role of adipocytokines in KD.AIM To estimate the levels of adipocytokines(adiponectin,leptin and resistin)during the convalescent phase of KD.METHODS Twenty children,who had KD at least three years earlier,were enrolled in this study.In addition,20 healthy controls were also enrolled.Clinical and laboratory profiles of patients were obtained from hospital records.Serum adiponectin,leptin and resistin levels were estimated by enzyme-linked immunosorbent assay.RESULTS Mean age of the patients in the study group was 10.15±3 years and the male:female ratio was 1.5:1.Median serum resistin levels in patients with KD(27.77 ng/mL;[IQR:18.66,48.90])were decreased compared to controls(21.20 ng/mL;[IQR:14.80,27.00])(P=0.04).Median serum leptin levels in cases and controls were 1.83 ng/mL;(IQR:1.13,3.80),and 1.10 ng/mL;(IQR:0.41,2.88),respectively(P=0.09).Median serum adiponectin levels were similar in both cases(12.20μg/mL;[IQR:9.76,17.97])and controls(13.95μg/mL;[IQR:11.17,22.58]);(P=0.18).There was no significant difference in all 3 adipocytokines between children with(4/20)and without coronary artery abnormalities(16/20).CONCLUSION Serum resistin levels were significantly elevated in patients with KD during the convalescent phase compared to controls.Serum leptin levels appeared to be higher in patients with KD,although the difference was not statistically significant.Adiponectin levels were similar in both cases and controls.Raised resistin and leptin levels may partially explain lipid perturbations observed during the convalescent phase of KD. | Dibya Lochan Praharaj Amit Rawat Anju Gupta Kanika Arora Rakesh Kumar Pilania Sagar Bhattad Surjit Singh | 2022 | World Journal of Clinical Pediatrics2022，11，4： | 1 |
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