Cytotoxic T lymphocyte antigen–4 (CTLA-4) is an inhibitory receptor found on immune cells.
The consequences of mutations in CTLA4 in humans are unknown. We identified germline …

Mutations in the LRBA gene (encoding the lipopolysaccharide-responsive and beige-like
anchor protein) cause a syndrome of autoimmunity, lymphoproliferation, and humoral immune …

Germline loss-of-function mutations in the transcription factor signal transducer and
activator of transcription 3 (STAT3) cause immunodeficiency, whereas somatic gain-of-function …

Class IA phosphatidylinositol 3-kinases (PI3K), which generate PIP 3 as a signal for cell
growth and proliferation, exist as an intracellular complex of a catalytic subunit bound to a …

Autoimmune lymphoproliferative syndrome (ALPS) presents in childhood with nonmalignant
lymphadenopathy and splenomegaly associated with a characteristic expansion of mature …

IR research has a strong tradition of laboratory evaluation of systems. Such research is based
on test collections, pre-defined test topics, and standard evaluation metrics. While recent …

MLL2 mutations are detected in 55 to 80% of patients with Kabuki syndrome (KS). In 20 to
45% patients with KS, the genetic basis remains unknown, suggesting possible genetic …

Background Staphylococcus aureus bacteraemia is a common cause of severe community-acquired
and hospital-acquired infection worldwide. We tested the hypothesis that adjunctive …

Background Silver–Russell syndrome (SRS) is characterised by intrauterine growth restriction,
poor postnatal growth, relative macrocephaly, triangular face and asymmetry. Maternal …

Genomic disorders are characterized by the presence of flanking segmental duplications
that predispose these regions to recurrent rearrangement. Based on the duplication …