Article
Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.
BMC medical genetics - 13 Nov 2009
Alsmadi Osama, Al-Ghonaium Abdulaziz, Al-Muhsen Saleh, Arnaout Rand, Al-Dhekri Hasan, Al-Saud Bandar, Al-Kayal Fadi, Al-Saud Haya, Al-Mousa Hamoud
Abstract excerpt
BACKGROUND: Children with Severe Combined Immunodeficiency (SCID) lack autologous T lymphocytes and present with multiple infections early in infancy. Omenn syndrome is characterized by the sole emergence of oligoclonal auto-reactive T lymphocytes, resulting in erythroderma and enteropathy. Omenn syndrome (OS) shares the genetic aetiology of T-B-NK+ SCID, with mutations in RAG1, RAG2, or DCLRE1C. METHODS:...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.