Discovery and Validation of a Three-Cytokine Plasma Signature as a Biomarker for Diagnosis of Pediatric Tuberculosis.

Pediatric TB poses challenge in diagnosis due to the paucibacillary nature of the disease. We conducted a prospective diagnostic study to identify immune biomarkers of pediatric TB and controls (discovery cohort) and obtained a separate "validation" cohort of confirmed cases of pediatric TB and controls. Multiplex ELISA was performed to examine the plasma levels of cytokines.

Impact of COVID-19 on routine immunisation in South-East Asia and Western Pacific: Disruptions and solutions.

Background: Data on COVID-19-induced disruption to routine vaccinations in the South-East Asia and Western Pacific regions (SEAR/WPR) have been sparse. This study aimed to quantify the impact of COVID-19 on routine vaccinations by country, antigen, and sector (public or private), up to 1 June 2020, and to identify the reasons for disruption and possible solutions.

Methods: Sanofi Pasteur teams from 19 countries in SEAR/WPR completed a structured questionnaire reporting on COVID-19 disruptions for 13-19 routinely delivered antigens per country, based on sales data, government reports, and regular physician interactions.

Pharmacogenetic evaluation of 6-mercaptopurine-mediated toxicity in pediatric acute lymphoblastic leukemia patients from a South Indian population.

To evaluate the variants in the genes coding for the proteins involved in thiopurine and folate metabolism with treatment related adverse effects (TRAEs). Eleven variants in seven candidate genes were genotyped in 127 pediatric acute lymphoblastic leukemia patients under 6-mercaptopurine (6-MP) treatment to infer the association of selected genotypes with TRAEs. Among the genotypes inspected, (c.

Prognostic Value of Amplitude-Integrated Electroencephalography in Term Neonates With Encephalopathy.

Objective: To evaluate the prognostic value of amplitude-integrated EEG in term neonates with encephalopathy.

Methods: In this prospective observational study we enrolled 58 term neonates with encephalopathy from March, 2019 to March, 2020. Level of alertness was ascertained as per Volpe's classification and tone as per Amiel-Tison scale of tone assessment.

Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling.

Bone formation represents a heritable trait regulated by many signals and complex mechanisms. Its abnormalities manifest themselves in various diseases, including sclerosing bone disorder (SBD). Exploration of genes that cause SBD has significantly improved our understanding of the mechanisms that regulate bone formation.

Plasma biomarker profiling of PIMS-TS, COVID-19 and SARS-CoV2 seropositive children - a cross-sectional observational study from southern India.

Background: SARS-CoV-2 infection in children can present with varied clinical phenotypes and understanding the pathogenesis is essential, to inform about the clinical trajectory and management.

Methods: We performed a multiplex immune assay analysis and compared the plasma biomarkers of Paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 infection (PIMS-TS), acute COVID-19 infection (COVID-19), SARS-CoV-2 seropositive and control children admitted to a tertiary care children's hospital in Chennai, India. Pro-inflammatory cytokines, chemokines and growth factors were correlated with SARS-CoV-2 clinical phenotypes.

Safety and Feasibility of Antibiotic De-escalation in Critically Ill Children With Sepsis - A Prospective Analytical Study From a Pediatric ICU.

De-escalation is the key to balance judicious antibiotic usage for life-threatening infections and reducing the emergence of antibiotic resistance caused by antibiotic overuse. Robust evidence is lacking regarding the safety of antibiotic de-escalation in culture negative sepsis. Children admitted to the PICU during the first 6 months of 2019 with suspected infection were included.

Recurrent Intestinal Perforation After Cessation of Immunosuppression in Posttransplant Lymphoproliferative Disease in Pediatric Liver Transplant Recipient.

Posttransplant lymphoproliferative disease (PTLD) is the most common malignant complication after solid organ transplantation. Gastrointestinal involvement as the presentation in early PTLD can occur in 25-30% of pediatric liver transplant recipients and can be the only system involved in 20%. Recurrent gastrointestinal perforation due to resolution of PTLD is an extremely rare complication.

The Spectrum of Clinical, Immunological, and Molecular Findings in Familial Hemophagocytic Lymphohistiocytosis: Experience From India.

Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of immune dysregulation characterized by hyperactivation of the immune system, excessive cytokine secretion and severe systemic inflammation. HLH is classified as familial (FHL) when associated with mutations in , and genes. There is limited information available about the clinical and mutational spectrum of FHL patients in Indian population.

Outcomes of Neonates Born to Mothers With Coronavirus Disease 2019 (COVID-19) - National Neonatology Forum (NNF) India COVID-19 Registry.

Background: Limited evidence exists on perinatal transmission and outcomes of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection in neonates.

Objective: To describe clinical outcomes and risk factors for transmission in neonates born to mothers with perinatal SARS-CoV-2 infection.

Design: Prospective cohort of suspected and confirmed SARS-CoV-2 infected neonates entered in National Neonatology Forum (NNF) of India registry.

Clinical, Immunological, and Molecular Profile of Chronic Granulomatous Disease: A Multi-Centric Study of 236 Patients From India.

Background: Chronic granulomatous disease (CGD) is an inherited defect in phagocytic respiratory burst that results in severe and life-threatening infections in affected children. Single center studies from India have shown that proportion of autosomal recessive (AR) CGD is more than that reported from the West. Further, affected patients have high mortality rates due to late referrals and difficulties in accessing appropriate treatment.

Diagnostic Spectrum and Clinical Profile of Primary Immunodeficiency Disorders at a Tertiary Care Children Hospital in Southern India.

Background: Primary immunodeficiency disorders are genetically heterogeneous immune disorders with a wide range of infectious and non-infectious manifestations.

Objective: To describe a single-center experience of primary immunodeficiency disorders.

Design: Retrospective analysis from January 2015 to January 2020.

Non Malignant Lymphoproliferative Disorders in Children: A Case Series.

Lymphoproliferative disorders occurs due to uncontrolled proliferation of lymphocytes that causes lymphocytosis, lymphadenopathy, and involvement of extra nodal sites (bone marrow, liver and spleen) and occur primarily due to immune dysfunction. We describe series of cases with non malignant LPD encountered in our practice and their varied clinical presentation, difficulties in diagnosis, underlying etiology, treatment and outcome. Many of these disorders are self limiting, however some are associated with significant morbidity, hence treatment must be tailored based on the underlying immune dysfunction and aggressiveness of the clone.

Correlation of SARS-CoV-2 Serology and Clinical Phenotype Amongst Hospitalised Children in a Tertiary Children's Hospital in India.

Introduction: Children usually present with minimal or no symptoms of COVID-19 infection. Antibody responses to SARS-CoV-2 in children from low- and middle-income countries (LMIC) have not been well described. We describe the prevalence of anti-SARS-CoV-2 antibodies and clinical phenotype of seropositive children admitted to a tertiary children's hospital in South India.

Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India.

Background: Severe Combined Immune Deficiency (SCID) is an inherited defect in lymphocyte development and function that results in life-threatening opportunistic infections in early infancy. Data on SCID from developing countries are scarce.

Objective: To describe clinical and laboratory features of SCID diagnosed at immunology centers across India.

Clinical and Genetic Profile of X-Linked Agammaglobulinemia: A Multicenter Experience From India.

Background: There is paucity of literature on XLA from developing countries. Herein we report the clinical and molecular profile and outcome in a multicenter cohort of patients with XLA from India.

Methods: Data on XLA from all regional centers supported by the Foundation for Primary Immunodeficiency Diseases (FPID), USA and other institutions providing care to patients with PIDs were collated.

Clinical and molecular characterization of four patients with Robinow syndrome from different families.

Robinow syndrome (RS) is a rare heterogeneous disorder characterized by short stature, short-limbs, craniofacial, oro-dental abnormalities, vertebral segmentation defects, and frequently genital hypoplasia. Both autosomal dominant and recessive patterns of inheritance are observed with many causative genes. Here, we present the phenotypes and genotypes of four children with RS from different Indian families.