Clinical, Immunological, and Molecular Findings of Patients with p47 Defect Chronic Granulomatous Disease (CGD) in Indian Families.

Chronic granulomatous disease (CGD) is a group of inherited disorder of phagocytes, resulting from mutations in the components of the NADPH oxidase complex. Reduced or absent oxygen radical synthesis seen in these patients leads to impaired killing of intracellular bacteria and fungi. CGD clinically presents with recurrent and life-threatening infections as well as granulomatous inflammatory responses.

Neonatal diabetes mellitus due to L233F mutation in the KCNJ11 gene.

Background: Neonatal diabetes mellitus (NDM) due to KCNJ11 gene mutation presents with diabetes in the first 3 months of life and sometimes with neurological features like developmental delay, muscle weakness and epilepsy.

Methods: A 5-week-old boy presented with diabetic ketoacidosis. Molecular genetic analysis of the patient revealed heterozygous missense mutation, L233F in the KCNJ11 gene, while his mother was mosaic for the same mutation.

Response of HIV-associated proteinuria to antiretroviral therapy in HIV-1-infected children.

HIV-associated nephropathy has been found in children with HIV-1 infection as a late manifestation of this disease; it is associated with nephrotic syndrome with focal segmental glomerulosclerosis and/or mesangial hyperplasia with microcystic tubular dilatation. This is quite rare in children and no cases have been reported from India. Several mechanisms have been hypothesized for the HIV-induced renal damage.