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 ITGβ2 gene. LAD type 2 (LAD2) is caused by mutations in the SLC35C1 gene leading to a generalized loss of expression of fucosylated glycans on the cell surface and LAD type 3 (LAD3) is caused by mutations in the FERMT3 gene resulting in platelet function defects along with immunodeficiency. There is a paucity of data available from India on LAD syndromes. The present study is a retrospective analysis of patients with LAD collated from 28 different centers across India. For LAD1, the diagnosis was based on clinical features and flow cytometric expression of CD18 on peripheral blood leukocytes and molecular confirmation by Sanger sequencing. For patients with LAD3 diagnosis was largely based on clinical manifestations and identification of the pathogenic mutation in the FERMT3 gene by next-generation Sequencing. Of the total 132 cases diagnosed with LAD, 127 were LAD1 and 5 were LAD3. The majority of our patients (83%) had CD18 expression less than 2% on neutrophils (LAD1°) and presented within the first three months of life with omphalitis, skin and soft tissue infections, delayed umbilical cord detachment, otitis media, and sepsis. The patients with CD18 expression of more than 30% (LAD1+) presented later in life with skin ulcers being the commonest manifestation. Bleeding manifestations were common in patients with LAD3. Persistent neutrophilic leukocytosis was the characteristic finding in all patients. 35 novel mutations were detected in the ITGβ2 gene, and 4 novel mutations were detected in the FERMT3 gene. The study thus presents one of the largest cohorts of patients from India with LAD, focusing on clinical features, immunological characteristics, and molecular spectrum.

Background: Neonatal outcome is a sensitive indicator of availability, utilization and effectiveness of obstetrics and neonatal health care in the community. Review of hospital based mortality and morbidity pattern is critical to improve the quality of health care delivery system in that hospital. Objectives: To study the morbidity and mortality pattern of neonates admitted to neonatal intensive care unit (NICU) of a rural medical college hospital. Material and methods: All the neonates admitted to NICU from July 2013 to June 2015 were retrospectively analysed for demographic profile, short term morbidity and outcome. Results: 1580 neonates were admitted in the study period. 59.5% were Males, 63% were inborn, 75% were term babies and 59.5% had normal birth weight. 89.8% were admitted in early neonatal period. Important causes for admission were sepsis (24%)), birth asphyxia (23.6%), prematurity and low birth weight care (18.5%), Respiratory problems (13.9%) and hyperbilirubinemia (10.3%). The outcome of the admitted babies showed 83% discharges, 3.7% deaths, 12.2% discharge against medical advice and 1.96% referred to another centre. The major causes of mortality were birth asphyxia including hypoxic ischemic encephalopathy (45%), sepsis (27.5%) and respiratory problems (27.5%). The survival of term as well as inborn babies was better than that of preterm and out born neonates respectively. Conclusion: Birth asphyxia, neonatal sepsis, prematurity and respiratory problems were major causes of both mortality and morbidity. There is need to strengthen services to address these problems more effectively.

BACKGROUND: India houses highest number of malnourished children next to African countries. Malnutrition is lethal in combination with Tuberculosis. Efficacy of BCG vaccination, a part of Universal Immunization Programme in preventing TB infection and utility of TST in detection of TB infection in malnourished children needs to be studied. OBJECTIVE: 1. To obtain the morbidity pattern of tuberculosis. 2. To study the role of BCG vaccination and reliability of TST in under five children with severe acute malnutrition. MATERIAL AND METHODS: DESIGN: A prospective study. SETTING: Severe malnutrition unit in a tertiary level referral hospital in central India. PARTICIPANTS: Under five children with severe acute malnutrition in SMTU. OUTCOME MEASURES: 1. Presence of tuberculosis in SAM children. 2. Morbidity pattern of tuberculosis in SAM children. 3. Presence of BCG scar in diseased children. 4. Reactivity status of TST in diseased children. RESULTS: Tuberculosis was diagnosed in 22% of severe acute malnutrition cases. Seventy eight percent (78.50%) of the pulmonary tuberculosis cases were younger than 1 year. In children of 13-26 months of age, 50% of cases were pulmonary tuberculosis while neuro-tuberculosis and disseminated tuberculosis contributed 25% each. BCG scar was present in 86.6% of malnourished children with pulmonary tuberculosis while only 28.4% of extra pulmonary seriously ill cases had BCG scar. Positive tuberculin reaction was seen in only 8.0% children, 50% of them had 10-15mm induration. CONCLUSION: Tuberculosis is one of the treatable causes of malnutrition and there is high prevalence of tuberculosis infection among SAM children. Identifying adult cases and giving proper treatment as well as screening their malnourished children will help in early identification and preventing spread of pulmonary TB among children.

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