Ontology highlight
ABSTRACT:
SUBMITTER: Al Balwi M
PROVIDER: S-EPMC2740248 | biostudies-literature | 2009 Jul
REPOSITORIES: biostudies-literature
Al Balwi Mohammed M Al Ajaji Sulaiman S Al Abdulkareem Ibrahim I Hajeer Ali A
Cases journal 20090730
<h4>Introduction</h4>The V(D)J rearrangement of B and T cell lymphocytes during the recombination process, which is essential for the development of normal immune system function, depends critically on the presence of the recombination activating enzymes, RAG1 and RAG2. Mutations in RAG1 or RAG2 can lead to a spectrum of disorders, ranging from typical B-T-severe combined immunodeficiency to Omenn's syndrome.<h4>Case presentation</h4>A two-month-old Saudi baby girl presented with fever, respirat ...[more]