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An updated review on phenocopies of primary immunodeficiency diseases

Genes & Diseases 2020年第1期7卷 12-25页

作者： Ankita Singh Ankur K.Jindal Vibhu Joshi gummadi anjani Amit Rawat Allergy Immunology Unit Department of PediatricsAdvanced Pediatrics CentrePostgraduate Institute of Medical Education and ResearchChandigarhIndia

Primary immunodeficiency diseases(PIDs)refer to a heterogenous group of disorders characterized clinically by increased susceptibility to infections,autoimmunity and increased risk of *** 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 *** this review,we provide an update on clinical manifestations,diagnosis and management of these diseases.

关键词： Anti-cytokine antibodies Phenocopies Primary immunodeficiency diseases Somatic mutations

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Recent advances in chronic granulomatous disease

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Genes & Diseases 2020年第1期7卷 84-92页

作者： gummadi anjani Pandiarajan Vignesh Vibhu Joshi Jitendra Kumar Shandilya Dharmagat Bhattarai Jyoti Sharma Amit Rawat Allergy Immunology Unit Department of PediatricsAdvanced Pediatrics CentrePostgraduate Institute of Medical Education and ResearchChandigarhIndia

Chronic granulomatous disease(CGD)is an inherited defect of phagocyte function due to defective NADPH *** 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 *** complications are also noted in CGD such as colitis,non-infective granulomas causing gastrointestinal or urinary tract obstruction,hemophagocytic lymphohistiocytosis,and *** 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 *** reports also indicate a reduction of memory B cells and defective production of functional antibodies in *** 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 *** also discuss the clinical and molecular features of p40phox defects and a newer genetic defect,*** phenotypes of X-linked carriers of CYBB are also discussed.

关键词： Chronic granulomatous disease Colitis EROS Genetics Infections Inflammation p40phox

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Genetics of severe combined immunodeficiency

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Genes & Diseases 2020年第1期7卷 52-61页

作者： Rajni Kumrah Pandiarajan Vignesh Pratap Patra Ankita Singh gummadi anjani Poonam Saini Madhubala Sharma Anit Kaur Amit Rawat Allergy Immunology Unit Department of PediatricsAdvanced Pediatrics CentrePostgraduate Institute of Medical Education and ResearchChandigarhIndia

Severe Combined Immunodeficiency(SCID)is an inherited group of rare,lifethreatening disorders due to the defect in T cell development and *** manifestations are characterised by recurrent and severe bacterial,viral,and fungal opportunistic infections that start from early infancy *** stem cell transplantation(HSCT)is the treatment of *** pattern of inheritance of SCID may be X-linked or autosomal *** 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 *** review aims to highlight the genetic aspects of SCID.

关键词： Adenosine deaminase Flow cytometry Genetics Newborn screening Severe combined immunodeficiency

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