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Cell|July 21, 1999
Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type IIJ Wang, L Zheng, A Lobito, et al.
The Journal of Pediatrics|March 1, 1997
Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infantsR H Buckley, R I Schiff, S E Schiff, et al.
Clinical Immunology (Orlando, Fla.)|August 22, 2001
TcR-alpha/beta(+) CD4(-)CD8(-) T cells in humans with the autoimmune lymphoproliferative syndrome express a novel CD45 isoform that is analogous to murine B220 and represents a marker of altered O-glycan biosynthesisJ J Bleesing, M R Brown, J K Dale, et al.
Radiology|July 16, 1999
Autoimmune lymphoproliferative syndrome: a syndrome associated with inherited genetic defects that impair lymphocytic apoptosis--CT and US featuresN A Avila, A J Dwyer, J K Dale, et al.
Human Genetics|September 12, 2000
Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphismR F Schumacher, P Mella, R Badolato, et al.
The New England Journal of Medicine|March 4, 1999
Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorderB Grimbacher, S M Holland, J I Gallin, et al.
Human Molecular Genetics|November 1, 1995
Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNAI Santisteban, F X Arredondo-Vega, S Kelly, et al.
Cell|June 16, 1995
Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndromeG H Fisher, F J Rosenberg, S E Straus, et al.
Blood|October 6, 2001
Immunophenotypic profiles in families with autoimmune lymphoproliferative syndromeJ J Bleesing, M R Brown, S E Straus, et al.
British Journal of Haematology|September 30, 1998
Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatmentF Bozzi, G Lefranc, A Villa, et al.
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