Found: 17
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Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome.
- Published in:
- Human Genetics, 2006, v. 119, n. 3, p. 284, doi. 10.1007/s00439-006-0138-9
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- Article
Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency.
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- Nature, 2002, v. 419, n. 6905, p. 395, doi. 10.1038/nature01063
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- Article
Impaired T<sub>H</sub>17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome.
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- Nature, 2008, v. 452, n. 7188, p. 773, doi. 10.1038/nature06764
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- Article
2888. STAT4 Mutation in Three Generations with Disseminated Coccidioidomycosis (DCM) also Exhibits Increased Susceptibility to Coccidioidal Infection in Transfected Mice.
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- Open Forum Infectious Diseases, 2019, v. 6, p. S77, doi. 10.1093/ofid/ofz359.166
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- Article
806. Immunologic Improvement after Gene Therapy in 3 Preadolescents with X-Linked Severe Combined Immunodeficiency (XSCID).
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- Molecular Therapy, 2006, v. 13, p. S312, doi. 10.1016/j.ymthe.2006.08.1227
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- Article
Bone Density and Fractures in Autosomal Dominant Hyper IgE Syndrome.
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- Journal of Clinical Immunology, 2014, v. 34, n. 2, p. 260, doi. 10.1007/s10875-013-9982-2
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- Article
Lung Parenchyma Surgery in Autosomal Dominant Hyper-IgE Syndrome.
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- Journal of Clinical Immunology, 2013, v. 33, n. 5, p. 896, doi. 10.1007/s10875-013-9890-5
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- Article
A Rapid Ex Vivo Clinical Diagnostic Assay for Fas Receptor-Induced T Lymphocyte Apoptosis.
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- Journal of Clinical Immunology, 2013, v. 33, n. 2, p. 479, doi. 10.1007/s10875-012-9811-z
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- Article
Coronary Artery Abnormalities in Hyper-IgE Syndrome.
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- Journal of Clinical Immunology, 2011, v. 31, n. 3, p. 338, doi. 10.1007/s10875-011-9515-9
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- Article
Use of mycophenolate mofetil for chronic, refractory immune cytopenias in children with autoimmune lymphoproliferative syndrome.
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- British Journal of Haematology, 2005, v. 129, n. 4, p. 534, doi. 10.1111/j.1365-2141.2005.05496.x
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- Article
Mutations of CTSK Result in Pycnodysostosis via a Reduction in Cathepsin K Protein.
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- Journal of Bone & Mineral Research, 1999, v. 14, n. 10, p. 1649, doi. 10.1359/jbmr.1999.14.10.1649
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- Article
Mutant deoxynucleotide carrier is associated with congenital microcephaly.
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- Nature Genetics, 2002, v. 32, n. 1, p. 175, doi. 10.1038/ng948
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- Article
Clinical picture of boys with XSCID and the road to gene therapy.
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- Nursing & Health Sciences, 2005, v. 7, n. 2, p. 144, doi. 10.1111/j.1442-2018.2005.00233_5.x
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- Article
Comprehensive RNAi-based screening of human and mouse TLR pathways identifies species-specific preferences in signaling protein use.
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- Science Signaling, 2016, v. 9, n. 409, p. 1, doi. 10.1126/scisignal.aab2191
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- Article
Use of rituximab for refractory cytopenias associated with autoimmune lymphoproliferative syndrome (ALPS).
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- Pediatric Blood & Cancer, 2009, v. 52, n. 7, p. 847, doi. 10.1002/pbc.21965
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- Article
The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flow.
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- Brain: A Journal of Neurology, 2012, v. 135, n. 8, p. 2440, doi. 10.1093/brain/aws174
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- Article
West Nile virus encephalitis in GATA2 deficiency.
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- Allergy, Asthma & Clinical Immunology, 2019, v. 15, n. 1, p. N.PAG, doi. 10.1186/s13223-019-0321-x
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- Article