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American Journal of Human Genetics|March 26, 1999
Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetranceC E Jackson, R E Fischer, A P Hsu, et al.
The American Journal of Pathology|November 12, 1998
Pathological findings in human autoimmune lymphoproliferative syndromeM S Lim, S E Straus, J K Dale, et al.
Molecular Cell|December 14, 2001
Unexpected effects of FERM domain mutations on catalytic activity of Jak3: structural implication for Janus kinasesY J Zhou, M Chen, N A Cusack, et al.
Blood|November 14, 1997
Structural and functional basis for JAK3-deficient severe combined immunodeficiencyF Candotti, S A Oakes, J A Johnston, et al.
Blood|May 9, 2001
Increases in circulating and lymphoid tissue interleukin-10 in autoimmune lymphoproliferative syndrome are associated with disease expressionU Lopatin, X Yao, R K Williams, et al.
Genes and Immunity|January 10, 2002
Unexpected and variable phenotypes in a family with JAK3 deficiencyD M Frucht, M Gadina, G J Jagadeesh, et al.
American Journal of Human Genetics|August 12, 1999
Genetic linkage of hyper-IgE syndrome to chromosome 4B Grimbacher, A A Schäffer, S M Holland, et al.
Advances in Genetics|October 19, 2000
Primary immunodeficiency mutation databasesM Vihinen, F X Arredondo-Vega, J L Casanova, et al.
Blood|June 22, 2001
The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosisS E Straus, E S Jaffe, J M Puck, et al.
Blood|October 24, 2022
Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCTC Schuetz, J Gerke, M Ege, et al.
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