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Primary immunodeficiency mutation databases.
Vihinen M, Arredondo-Vega FX, Casanova JL, Etzioni A, Giliani S, Hammarström L, Hershfield MS, Heyworth PG, Hsu AP, Lähdesmäki A, Lappalainen I, Notarangelo LD, Puck JM, Reith W, Roos D, Schumacher RF, Schwarz K, Vezzoni P, Villa A, Väliaho J, Smith CI. Vihinen M, et al. Among authors: puck jm. Adv Genet. 2001;43:103-88. doi: 10.1016/s0065-2660(01)43005-7. Adv Genet. 2001. PMID: 11037300 Review.
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarström L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J; International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. Geha RS, et al. Among authors: puck jm. J Allergy Clin Immunol. 2007 Oct;120(4):776-94. doi: 10.1016/j.jaci.2007.08.053. J Allergy Clin Immunol. 2007. PMID: 17952897 Free PMC article.
Primary immunodeficiency diseases: an update.
Notarangelo L, Casanova JL, Fischer A, Puck J, Rosen F, Seger R, Geha R; International Union of Immunological Societies Primary Immunodeficiency diseases classification committee. Notarangelo L, et al. J Allergy Clin Immunol. 2004 Sep;114(3):677-87. doi: 10.1016/j.jaci.2004.06.044. J Allergy Clin Immunol. 2004. PMID: 15356576
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005.
Notarangelo L, Casanova JL, Conley ME, Chapel H, Fischer A, Puck J, Roifman C, Seger R, Geha RS; International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. Notarangelo L, et al. J Allergy Clin Immunol. 2006 Apr;117(4):883-96. doi: 10.1016/j.jaci.2005.12.1347. J Allergy Clin Immunol. 2006. PMID: 16680902
Primary immunodeficiencies: 2009 update.
International Union of Immunological Societies Expert Committee on Primary Immunodeficiencies; Notarangelo LD, Fischer A, Geha RS, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C, Etzioni A, Hammartröm L, Nonoyama S, Ochs HD, Puck J, Roifman C, Seger R, Wedgwood J. International Union of Immunological Societies Expert Committee on Primary Immunodeficiencies, et al. J Allergy Clin Immunol. 2009 Dec;124(6):1161-78. doi: 10.1016/j.jaci.2009.10.013. J Allergy Clin Immunol. 2009. PMID: 20004777 Free PMC article.
International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity.
Picard C, Bobby Gaspar H, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Crow YJ, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Tang MLK, Tangye SG, Torgerson TR, Sullivan KE. Picard C, et al. J Clin Immunol. 2018 Jan;38(1):96-128. doi: 10.1007/s10875-017-0464-9. Epub 2017 Dec 11. J Clin Immunol. 2018. PMID: 29226302 Free PMC article.
The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies.
Bousfiha A, Jeddane L, Picard C, Ailal F, Bobby Gaspar H, Al-Herz W, Chatila T, Crow YJ, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Tang MLK, Tangye SG, Torgerson TR, Casanova JL, Sullivan KE. Bousfiha A, et al. J Clin Immunol. 2018 Jan;38(1):129-143. doi: 10.1007/s10875-017-0465-8. Epub 2017 Dec 11. J Clin Immunol. 2018. PMID: 29226301 Free PMC article.
Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification.
Bousfiha A, Jeddane L, Picard C, Al-Herz W, Ailal F, Chatila T, Cunningham-Rundles C, Etzioni A, Franco JL, Holland SM, Klein C, Morio T, Ochs HD, Oksenhendler E, Puck J, Torgerson TR, Casanova JL, Sullivan KE, Tangye SG. Bousfiha A, et al. J Clin Immunol. 2020 Jan;40(1):66-81. doi: 10.1007/s10875-020-00758-x. Epub 2020 Feb 11. J Clin Immunol. 2020. PMID: 32048120 Free PMC article.
298 results