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The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency.
IL-21 restricts T follicular regulatory T cell proliferation through Bcl-6 mediated inhibition of responsiveness to IL-2
A mechanism by which IL-21 reinforces humoral immunity by restricting Tfr cell proliferation is identified, which is cell intrinsic and associated with decreased expression of the high affinity IL-2 receptor (CD25).
Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study
Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome
- P. Stepensky, Montserrat Chacón-Flores, O. Elpeleg
- Biology, MedicineJournal of Medical Genetics
- 22 March 2017
Similar to the molecular pathology of SDS, mutant EFL1 proteins do not promote the release of cytoplasmic Tif6 from the 60S subunit, likely preventing the formation of mature ribosomes.
The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy.
This is the first report of a Vps45-related disease in humans, manifesting by neutropenia, thrombasthenia, myelofibrosis, and progressive bone marrow failure.
The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis
An international survey with a literature search identified 63 patients with primary immunodeficiencies other than cytotoxicity defects or X-linked lymphoproliferative disorders, presenting with conditions fulfilling current criteria for hemophagocytic lymphohistiocytosis, and found this syndrome can develop despite severe deficiency of T and NK cells.
Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency.
Autoimmune cytopenia is a frequent manifestation of primary immunodeficiencies. Two siblings presented with Evans syndrome, viral infections, and progressive leukopenia. DNA available from one…
STAT3 is a critical cell-intrinsic regulator of human unconventional T cell numbers and function
- R. Wilson, Megan L. Ives, E. Deenick
- Biology, MedicineThe Journal of experimental medicine
- 1 June 2015
Wilson et al. show that individuals with loss-of-function mutations in STAT3 have reduced numbers of peripheral blood MAIT and NKT cells, but not γδ T cells. Residual MAIT cells had normal expression…
Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency.
This investigation investigated the medium-term outcome of gene therapy (GT) in 18 patients with ADA-SCID for whom an HLA-identical family donor was not available; most were not responding well to ERT.
Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia
Somatic mutations affecting ETV6 often occur in acute lymphoblastic leukemia (ALL), the most common childhood malignancy. The genetic factors that predispose to ALL remain poorly understood. Here we…