Article
X-linked lymphoproliferative syndromes: brothers or distant cousins?
Blood - 4 Nov 2010
Filipovich Alexandra H, Zhang Kejian, Snow Andrew L, Marsh Rebecca A
Abstract excerpt
X-linked lymphoproliferative disease (XLP1), described in the mid-1970s and molecularly defined in 1998, and XLP2, reported in 2006, are prematurely lethal genetic immunodeficiencies that share susceptibility to overwhelming inflammatory responses to certain infectious triggers. Signaling lymphocytic activation molecule-associated protein (SAP; encoded by SH2D1A) is mutated in XLP1, and X-linked inhibitor of...
Topics
- Animals
- Antigens, CD
- Gene Expression Regulation, Neoplastic
- Humans
- Lymphoproliferative Disorders
- Phenotype
- Receptors, Cell Surface
- Signaling Lymphocytic Activation Molecule Family Member 1
- X-Linked Inhibitor of Apoptosis Protein