Publications by authors named "P Vignesh"
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.
Article Synopsis
- X-linked agammaglobulinemia (XLA) is caused by a mutation in the Bruton's tyrosine kinase (BTK) gene, which prevents B cell development, resulting in low antibody levels and increased vulnerability to infections.
- Patients with XLA often suffer from recurrent bacterial infections, but can also face serious and rare fungal infections, as seen in a case involving a 3.5-year-old boy with disseminated aspergillosis who ultimately did not survive despite antifungal treatment.
- Genetic analysis confirmed a specific mutation in the BTK gene, underlining the severe immune system issues associated with XLA that extend beyond just B-cell deficiencies.
Article Synopsis
- Hereditary angioedema (HAE) is a rare genetic disorder that presents differently in children versus adults, and research is limited in developing countries where treatments are often inaccessible.
- In a study of 206 HAE patients, 61 were children under 18, with a median age of symptom onset at 6.2 years and diagnosis at 10.7 years, showing a median diagnostic delay of nearly 5 years.
- The most common symptoms in children included facial swelling and extremity swelling, while gastrointestinal symptoms were less frequent compared to adults; the study represents the largest pediatric HAE cohort from a resource-constrained setting.