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The Journal of Pediatrics|November 20, 1998
The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosisA J Infante, H A Britton, T DeNapoli, et al.
Molecular and Cellular Biology|May 29, 2000
Hierarchy of protein tyrosine kinases in interleukin-2 (IL-2) signaling: activation of syk depends on Jak3; however, neither Syk nor Lck is required for IL-2-mediated STAT activationY J Zhou, K S Magnuson, T P Cheng, et al.
Immunobiology|September 19, 2000
Combined immunodeficiencies due to defects in signal transduction: defects of the gammac-JAK3 signaling pathway as a modelL D Notarangelo, S Giliani, P Mella, et al.
Prenatal Diagnosis|March 12, 1999
Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysisS Giliani, M Fiorini, P Mella, et al.
Clinical Immunology (Orlando, Fla.)|May 4, 2000
Development of autologous T lymphocytes in two males with X-linked severe combined immune deficiency: molecular and cellular characterizationP Mella, L Imberti, D Brugnoni, et al.
Blood|February 3, 1998
Development of autologous, oligoclonal, poorly functioning T lymphocytes in a patient with autosomal recessive severe combined immunodeficiency caused by defects of the Jak3 tyrosine kinaseD Brugnoni, L D Notarangelo, A Sottini, et al.
Immunological Reviews|February 24, 2001
Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a modelL D Notarangelo, S Giliani, C Mazza, et al.
Immunity|December 1, 1996
Signaling via IL-2 and IL-4 in JAK3-deficient severe combined immunodeficiency lymphocytes: JAK3-dependent and independent pathwaysS A Oakes, F Candotti, J A Johnston, et al.
Blood|February 15, 1997
Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosisM C Sneller, J Wang, J K Dale, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 14, 1999
Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type IaD A Martin, L Zheng, R M Siegel, et al.
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