Screening for Wiskott-Aldrich Syndrome in Chronic Idiopathic Thrombocytopenic Purpura.

The clinical spectrum of X-linked thrombocytopenia (XLT)/ Wiskott-Aldrich syndrome (WAS) is broad, ranging from mild, intermittent thrombocytopenia to the classical severe phenotype characterized by eczema, infections, and thrombocytopenia. Patients with XLT often lack the complete triad but manifest with thrombocytopenia-associated bleeding and are hence misdiagnosed as chronic immune thrombocytopenia (ITP). Moreover, the clinical picture is further complicated by the development of autoimmune cytopenia.

Serum Ferritin Levels in Critically Ill Children With Severe Sepsis and Their Relationship With Mortality: A Prospective Observational Study (FerriPedS Study).

Objectives: To determine the serum ferritin levels, single-center prevalence of hyperferritinemia and its association with mortality in critically ill children with severe sepsis.

Methods: This prospective study was conducted in pediatric intensive care unit of a tertiary care teaching hospital in North India over a period of 13 months (June 2023-June 2024), including children 3 months-12 years old with severe sepsis. At admission, blood was collected for estimation of serum ferritin levels.

Cytokine signaling defects in primary atopic diseases-an updated review.

Primary atopic disorders (PADs) are monogenic conditions associated with severe, early-onset atopic diseases. Clinically, they often overlap with polygenic allergic conditions, making specialized laboratory testing necessary to distinguish them from polygenic atopy. Multisystem involvement, such as growth failure, recurrent infections, and autoimmunity, points towards PADs warranting further investigations.

Diagnosis of infected pancreatic necrosis: A review of the role of blood biomarkers.

Infected pancreatic necrosis (IPN) is a serious and critical complication of acute pancreatitis (AP), often arising in the later stages of the disease. Early detection of high-risk individuals with IPN is essential because it may enable clinicians to implement more efficient management strategies. This review explores the key biomarkers currently used to predict and diagnose IPN.

Serial Serum Immunoglobulin G Levels and Correlation with Outcomes in Children with Guillain Barre Syndrome.

Objectives: Guillain-Barré Syndrome (GBS) has variable severity, inconsistent therapy response, and uncertain recovery. Intravenous immunoglobulins (IVIG) are used to treat this immune-mediated disorder. The authors investigated serial IgG levels and outcomes in IVIG-treated GBS patients.

Clinicopathological and Immunogenetic Characterization in 8 Patients with Familial Hemophagocytic Lymphohistiocytosis Type 2: A Study from North India with Literature Review.

Familial hemophagocytic lymphohistiocytosis type 2 (FHL2) is the commonest cause of familial hemophagocytic lymphohistiocytosis (FHLH). In this retrospective study, we analyzed 8 patients with a genetic diagnosis of FHL2 and then examined their clinicopathological and perforin flow cytometry results (< 10% expression). The atypical clinical features in our cohort included tuberculosis, lymphoreticular malignancy, and necrotizing enterocolitis in 3 patients.

Centralized rapid genetic diagnosis of combined immunodeficiency in Japan.

Purpose: Severe combined immunodeficiency (SCID) is a pediatric emergency, and rapid genetic diagnosis is necessary for proper patient management, leading to successful stem cell transplantation and gene therapy. Ataxia telangiectasia (AT) requires early diagnosis to prevent infectious diseases and early detection of cancer. We aimed to diagnose patients with SCID/AT as quickly as possible and link them to the best treatments via the primary immunodeficiency database in Japan (PIDJ) network.

Retinal Vasculitis in Familial Blau Syndrome.

Introduction: Blau syndrome is a rare autosomal dominant condition resulting from mutations in the Nucleotide Oligomerization Domain of 2 ;(NOD2) gene. The disease typically presents in early childhood with a triad of arthritis, dermatitis, and uveitis. In this report, we describe retinal vasculitis as a rare phenotype in a family affected by Blau syndrome.

Markers of T Lymphocyte Activation in Children With Kawasaki Disease: An Experimental Study From North India.

Background: The exact pathogenesis of Kawasaki disease (KD) is unknown despite extensive research in the area. Several studies have also implicated CD8 T lymphocytes in the pathogenesis of KD. However, studies on the activation status of T lymphocytes have shown conflicting results.

Utility of simultaneous quantification of TREC/KREC in patients with common variable immunodeficiency phenotype: an observational study from North India.

Because of its heterogeneity, common variable immunodeficiency (CVID), the commonest symptomatic inborn error of immunity, is difficult to classify. Limited data suggest T-cell receptor excision circles (TREC) and kappa-deleting re-combination excision circles (KREC) may be useful to better classify and prognosticate CVID and CVID phenotype. Thirty-four patients with CVID/CVID phenotype and 30 healthy controls were included in this cross-sectional observational study.

Quality of life in patients with hereditary angioedema correlates with angioedema control: Our experience at Chandigarh, India.

Background: Hereditary angioedema (HAE) is characterized by unpredictable acute attacks that impair the patient's quality of life (QoL) not only due to the impact on functional abilities caused by edema but also due to pain and other symptoms, including fatigue, nausea, and vomiting.

Objectives: QoL studies in patients with HAE have not been carried out in the Indian subcontinent. Hence, we carried out this study to assess the QoL and to identify factors associated with impaired QoL in patients with HAE.

Concurrent infections in children with Kawasaki disease: lessons learned over 26 years.

Etiology of Kawasaki disease (KD) remains an enigma despite more than 50 years of extensive research. There is evidence that concurrent infections may play a role in the pathogenesis of KD. The present study reports various infections identified in a large cohort of patients with KD in Northwest India.

Prevalence of immunological aberrations and 22q11.2 deletion in children with conotruncal anomalies: A cross-sectional study.

Introduction: 22q11.2 deletion is associated with conotruncal anomalies and immunological aberrations. Given the common embryonic origin of conotruncus and thymus, conotruncal anomalies may be associated with immunological aberrations irrespective of 22q11.

Neonatal lupus erythematosus: 24 years of experience from a tertiary centre at Chandigarh, North India.

Objective: To study the clinical features and laboratory parameters of neonatal lupus erythematosus (NLE) from India.

Patients And Methods: We analyzed case records of children diagnosed with NLE in the Pediatric Rheumatology Clinic at tertiary care centre from North India during the period January 1999 - December 2023.

Results: Twenty-four babies are diagnosed with NLE during the study period.

Profile of patients with Juvenile Dermatomyositis and Anti-MDA5 autoantibodies.

Background: Anti-MDA5 autoantibody-positive dermatomyositis (MDA5-DM) is associated with clinically amyopathic forms and rapidly progressive interstitial lung disease (ILD); however, data in children are limited. In this study, we described our cohort of anti-MDA5-positive juvenile DM (MDA5-JDM) from a tertiary care center in North India.

Methods: We performed a retrospective analysis of children with MDA5-JDM who were diagnosed and followed up at our center and compared them with our anti-MDA5-negative cohort.

Incidence of Kawasaki disease among children in Chandigarh, India during 2015-2019: a trend analysis.

Background: Only limited information exists regarding the epidemiology of Kawasaki disease (KD) in low-income and middle-income countries. The present study provides the incidence of KD during 2015-2019 in Chandigarh, north India. Our centre follows the largest KD cohort in India.