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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 |
| 4 | Phospholipid scramblases:an overview显示文摘 | Sahu SK Gummadi SN Manoj N | | 0，，01： | 1 |
| 5 | Purification and biochemical properties of microbial Pectinases- Review 显示文摘 | Gummadi S N Panda T | 2003 | Process Biochemistry2003，38，： | 1 |
| 6 | Low velocity impact damage characteristics of Z-fiber reinforced sandwich panels an experimental study显示文摘 | PALAZOTTO A N GUMMADI L N B VAIDYA U K | 1998 | Composite Structures1998，43，4： | 1 |
| 7 | Measuring user influence in Twitter: The million follower fallacy显示文摘 | Cha M Gummadi K P | 2010 | Artificial Intelligence2010，146，1： | 1 |
| 8 | King: estimating latency between arbitrary internet end hosts 显示文摘 | Gummadi K P Saroiu S Gribble S D | 2002 | A CM SIGCOMM Computer Communication Review2002，32，3： | 1 |
| 9 | Phospholipid scramblases : an overview 显示文摘 | Sahu SK Gummadi SN Manoj N | 2007 | Arch Biochem Biophys2007，462，1： | 1 |
| 10 | Recovery of functionally active recombinant human phospholipid scramblase 1 from inclusion bodies using N-lauroyl sarcosine显示文摘 | Francis V G Majeed M A Gummadi S N | | 0，，07： | 1 |
| 11 | Hydrolysis of starch by amylase from Bacillus sp KCA102:a statistical approach显示文摘 | Pradeepa S Gummadi S N | 2005 | Process Biochemistry2005，40，： | 1 |
| 12 | An analysis of inter- net content delivery systems 显示文摘 | Saroiu S Gummadi K P Dunn R J | 2002 | ACM SIGOPS ~g Systems Review2002，36，1： | 1 |
| 13 | The mystery of phospholipid flip-flop in biogenic membranes显示文摘 | Gummadi SN Kumar KS | 2005 | Cell Mol Biol Lett2005，10，1： | 1 |
| 14 | Finite element analysis of low velocity impact on composite sandwich plates显示文摘 | Palazotto A N Herup E J Gummadi L N B | 2000 | Composite Structures2000，49，2： | 1 |
| 15 | An efficient primary-segmented backup scheme for dependable real-time communication in multihop networks显示文摘 | GUMMADI K P PRADEEP M J MURTHY C S R | 2003 | IEEE/ACM Transactions on Networking2003，11，1： | 1 |
| 16 | Purfication and biochemical properties of microbial pectinases-a review显示文摘 | Sathyanarayana N Gummadi Panda T | 2003 | Process Biochemistry2003，38，： | 1 |
| 17 | High-performance wireless Ethemet显示文摘 | Heegard C Coffey J T Gummadi S | 2001 | IEEE Communications Magazine2001，39，11： | 1 |
| 18 | Measurement, modeling, and analysis of a peer-to-peer file-sharing workload显示文摘 | Krishna P. Gummadi Richard J. Dunn Stefan Saroiu Steven D. Gribble Henry M. Levy John Zahorjan | 2003 | ACM SIGOPS Operating Systems Review2003，，5： | 1 |
| 19 | Measuring and analyzing the characteristics of napster and gnutella hosts显示文摘 | Saroiu S Gummadi K P Gribble S D | 2003 | Multimedia Systems2003，，9： | 1 |
| 20 | Measuring and analyzing the characteristics of napster and gnu- tella hosts显示文摘 | Saroiu S Gummadi K P Gribble S D | 2003 | Multimedia Systems2003，9，2： | 1 |
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