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您的检索式：作者名="Gummadi Anjani"
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| 1 | 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 |
| 2 | 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 |
| 3 | 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 |
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