Article
The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis.
The Journal of pediatrics - 1 Nov 1998
Infante A J, Britton H A, DeNapoli T, Middelton L A, Lenardo M J, Jackson C E, Wang J, Fleisher T, Straus S E, Puck J M
Abstract excerpt
Autoimmune lymphoproliferative syndrome (ALPS) is characterized by chronic, histologically benign splenomegaly and generalized lymphadenopathy, hypergammaglobulinemia, and autoantibody formation. ALPS has been attributed to defective programmed cell death of lymphocytes, most often arising as a r...
Topics
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Apoptosis
- Autoimmune Diseases
- CD4-CD8 Ratio
- Child
- Child, Preschool
- DNA Mutational Analysis
- Female
- Genetic Carrier Screening
- Humans
- Lymphoproliferative Disorders
- Male