Mutational Landscape of Patients with Wiskott Aldrich Syndrome: Update from India.

Purpose: Wiskott-Aldrich syndrome (WAS) is an X-linked genetic disorder characterized by distinctive features including microthrombocytopenia, eczema and recurrent infections. In the present study we report clinical, immunological and molecular spectrum of 41 WAS patients diagnosed over last five years.

Methods: Clinical and family history was collected from case records.

Clinical, immunological and molecular findings of patients with DOCK-8 deficiency from India.

DOCK8 deficiency affects various cell subsets belonging to both the innate and adaptive immune systems. Clinical diagnosis is challenging, as many cases present with severe atopic dermatitis as the only initial manifestation. Though flow cytometry helps in the presumptive diagnosis of DOCK8-deficient patients by evaluating their DOCK8 protein expression, it requires subsequent confirmation by molecular genetic analysis.

Gastrointestinal manifestations in children with primary immune deficiencies: A case series.

Gastrointestinal (GI) manifestations are the second most common complications of primary immune deficiencies (PIDs) after pulmonary disease, affecting up to one-half of children with PIDs. Non-infectious GI manifestations such as allergic, autoimmune, and inflammatory disorders can be the predominant manifestations of PIDs. We present a series of five children who presented predominantly with these GI manifestations of PID, not attributable to infections.

CARMIL2 Immunodeficiency with Epstein Barr Virus Associated Smooth Muscle Tumor (EBV-SMT). Report of a Case with Comprehensive Review of Literature.

Primary immunodeficiency (PID) having defects related to lymphocyte cytotoxic pathway or T-cell dysfunction are well known for developing opportunistic infections and Epstein-Barr virus (EBV)-associated diseases. CARMIL2 deficiency is a recently described combined immunodeficiency (CID) disorder characterized by defective CD28-mediated T cell co-stimulation, altered cytoskeletal dynamics, susceptibility to various infections and Epstein Barr Virus smooth muscle tumor (EBV-SMT). We report a homozygous CARMIL2 pathogenic variant presenting with recurrent infections and EBV associated smooth muscle tumor (SMT) in a child.

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.

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.

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 Spectrum of a Large Cohort of Patients With Leukocyte Adhesion Deficiency Type 1 and 3: A Multicentric Study From India.

Leukocyte adhesion deficiency (LAD) syndrome is a group of inborn errors of immunity characterized by a defect in the cascade of the activation and adhesion leading to the failure of leukocyte to migrate to the site of tissue injury. Three different types of LAD have been described. The most common subtype is LAD type 1 (LAD1) caused due to defects in the gene.

Hemophagocytic Lymphohistiocytosis in Children.

Objective: To study the profile of children with Hemophagocytic Lymphohistiocytosis (HLH) in a tertiary care hospital for children.

Methods: A retrospective analysis of case records of 52 children diagnossed with HLH was performed.

Results: Of the 52 children 13% (n = 7) had Familial HLH and 87% (n = 45) had secondary HLH (sHLH).

Haploidentical Stem Cell Transplantation in Children with Benign Disorders: Improved Survival and Cost-Effective Care Over 15 Years from a Single Center in India.

We present our experience in haploidentical stem cell transplantation (haplo SCT) in children with benign disorders. We performed a retrospective study where children aged up to 18 years diagnosed to have benign disorders and underwent haplo SCT from 2002 to September 2017 were included. Of the 54 children, the most common indications were Fanconi anaemia 12 (22%), severe aplastic anaemia 8 (14%) and primary immune deficiency disorders (PID) 25 (46%).

Successful Treatment of Relapsed Isolated Extraocular Retinoblastoma in the Right Fibula With High-dose Chemotherapy and Autologous Stem Cell Transplantation.

Literature on high-dose chemotherapy followed by autologous stem cell rescue in relapsed retinoblastoma is limited to <150 cases reported so far. We present our experience and the challenges faced in the management of a 7-year-old boy with relapsed isolated extraocular retinoblastoma in the right fibula who received salvage chemotherapy followed by high-dose chemotherapy and autologous stem cell rescue. Electrolyte disturbances, renal tubulopathy, and seizures were the most significant transplant-related morbidity.

Haploidentical Stem Cell Transplantation with Post-Transplant Cyclophosphamide for Primary Immune Deficiency Disorders in Children: Challenges and Outcome from a Tertiary Care Center in South India.

Haploidentical stem cell transplantation (haplo SCT) has emerged as an acceptable alternative to matched family donor transplantation for children diagnosed to have primary immune deficiency disorders (PIDs). We present data over 4 years on the challenges and efficacy of unmanipulated T cell replete haplo SCTs with post-transplant cyclophosphamide (PTCy) in children diagnosed to have PIDs. We performed a retrospective study in the pediatric blood and marrow transplantation unit where all children less than 18 years of age diagnosed to have PIDs and who underwent haplo SCT with PTCy from January 2014 to February 2018 were included in the study.

Quality Matters - Hematopoietic Stem Cell Transplantation versus Transfusion and Chelation in Thalassemia Major.

Objective: To compare quality of life of children with thalassemia major who have undergone stem cell transplantation with those on regular transfusion.

Methods: The study included 40 children who underwent transplantation and 40 children and 20 adults on regular transfusion and iron chelation therapy. The quality of life assessment was done using the Pediatric Quality of Life Inventory 4.

Ushering a New Era in the Management of Hepatitis C in Children with Hematological Disorders.

Transfusion-transmitted hepatitis C is a major concern among thalassemia patients. Our aim is to estimate the prevalence of Hepatitis C infection among thalassemia patients and to assess the treatment response, adverse effects of Peg-interferon based regimen and the new direct-acting antiviral drugs. Patients with thalassemia receiving regular blood transfusions with positive anti HCV antibodies during a period from January 2012 to June 2017 were analyzed.

Hematopoietic Stem Cell Transplantation for Primary Immunodeficiency Disorders: Experience from a Referral Center in India.

Objective: To share experience of over 15 years in hematopoietic stem cell transplantation in children with primary immunodeficiency disorders.

Design: Medical record review.

Setting: A referral center for pediatric hemato-oncological disorders.

Affordable and Safe Health Care for All Children: Lessons Learned from the Use of Peg-asparaginase in a Developing Country.

Peg-asparaginase has widely replaced the use of conventional asparaginase in treatment of children with acute lymphoblastic leukaemia in developed countries. In developing countries like India, with financial constraints being a part of clinical challenge to the treatment of cancers, uniform use of Peg-asparaginase in all children is not practically possible. However, we found by a retrospective analysis of 211 children treated for acute lymphoblastic leukaemia, uniform use of this drug was feasible with indigenous techniques like storing the drug with strict cold chain maintenance and sharing the drug amongst 2 or 3 patients to reduce the burden on each family.

Effect of trypan blue staining on the density and viability of lens epithelial cells in white cataract.

Purpose: To assess the effect of anterior capsule staining with trypan blue 0.0125% on the density and viability of the lens epithelial cells (LECs).

Setting: Iladevi Cataract and IOL Research Center, Ahmedabad, India.