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Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant.
Boisson-Dupuis S, Ramirez-Alejo N, Li Z, Patin E, Rao G, Kerner G, Lim CK, Krementsov DN, Hernandez N, Ma CS, Zhang Q, Markle J, Martinez-Barricarte R, Payne K, Fisch R, Deswarte C, Halpern J, Bouaziz M, Mulwa J, Sivanesan D, Lazarov T, Naves R, Garcia P, Itan Y, Boisson B, Checchi A, Jabot-Hanin F, Cobat A, Guennoun A, Jackson CC, Pekcan S, Caliskaner Z, Inostroza J, Costa-Carvalho BT, de Albuquerque JAT, Garcia-Ortiz H, Orozco L, Ozcelik T, Abid A, Rhorfi IA, Souhi H, Amrani HN, Zegmout A, Geissmann F, Michnick SW, Muller-Fleckenstein I, Fleckenstein B, Puel A, Ciancanelli MJ, Marr N, Abolhassani H, Balcells ME, Condino-Neto A, Strickler A, Abarca K, Teuscher C, Ochs HD, Reisli I, Sayar EH, El-Baghdadi J, Bustamante J, Hammarström L, Tangye SG, Pellegrini S, Quintana-Murci L, Abel L, Casanova JL. Boisson-Dupuis S, et al. Among authors: ochs hd. Sci Immunol. 2018 Dec 21;3(30):eaau8714. doi: 10.1126/sciimmunol.aau8714. Sci Immunol. 2018. PMID: 30578352 Free PMC article.
Paracoccidioidomycosis Associated With a Heterozygous STAT4 Mutation and Impaired IFN-γ Immunity.
Schimke LF, Hibbard J, Martinez-Barricarte R, Khan TA, de Souza Cavalcante R, Borges de Oliveira Junior E, Takahashi França T, Iqbal A, Yamamoto G, Arslanian C, Feriotti C, Costa TA, Bustamante J, Boisson-Dupuis S, Casanova JL, Marzagao Barbuto JA, Zatz M, Poncio Mendes R, Garcia Calich VL, Ochs HD, Torgerson TR, Cabral-Marques O, Condino-Neto A. Schimke LF, et al. Among authors: ochs hd. J Infect Dis. 2017 Dec 19;216(12):1623-1634. doi: 10.1093/infdis/jix522. J Infect Dis. 2017. PMID: 29029192
A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy.
Schimke LF, Rieber N, Rylaarsdam S, Cabral-Marques O, Hubbard N, Puel A, Kallmann L, Sombke SA, Notheis G, Schwarz HP, Kammer B, Hökfelt T, Repp R, Picard C, Casanova JL, Belohradsky BH, Albert MH, Ochs HD, Renner ED, Torgerson TR. Schimke LF, et al. Among authors: ochs hd. J Clin Immunol. 2013 Aug;33(6):1088-99. doi: 10.1007/s10875-013-9906-1. Epub 2013 May 25. J Clin Immunol. 2013. PMID: 23708964
Dendritic cells from X-linked hyper-IgM patients present impaired responses to Candida albicans and Paracoccidioides brasiliensis.
Cabral-Marques O, Arslanian C, Ramos RN, Morato M, Schimke L, Soeiro Pereira PV, Jancar S, Ferreira JF, Weber CW, Kuntze G, Rosario-Filho NA, Costa Carvalho BT, Bergami-Santos PC, Hackett MJ, Ochs HD, Torgerson TR, Barbuto JA, Condino-Neto A. Cabral-Marques O, et al. Among authors: ochs hd. J Allergy Clin Immunol. 2012 Mar;129(3):778-86. doi: 10.1016/j.jaci.2011.10.026. Epub 2011 Dec 10. J Allergy Clin Immunol. 2012. PMID: 22154528
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. Among authors: ochs hd. 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.
Human CD40 ligand deficiency dysregulates the macrophage transcriptome causing functional defects that are improved by exogenous IFN-γ.
Cabral-Marques O, Ramos RN, Schimke LF, Khan TA, Amaral EP, Barbosa Bomfim CC, Junior OR, França TT, Arslanian C, Carola Correia Lima JD, Weber CW, Ferreira JF, Tavares FS, Sun J, D'Imperio Lima MR, Seelaender M, Garcia Calich VL, Marzagão Barbuto JA, Costa-Carvalho BT, Riemekasten G, Seminario G, Bezrodnik L, Notarangelo L, Torgerson TR, Ochs HD, Condino-Neto A. Cabral-Marques O, et al. Among authors: ochs hd. J Allergy Clin Immunol. 2017 Mar;139(3):900-912.e7. doi: 10.1016/j.jaci.2016.07.018. Epub 2016 Aug 20. J Allergy Clin Immunol. 2017. PMID: 27554817
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. Among authors: ochs hd. 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.
490 results