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The autoimmune regulator (AIRE), which is defective in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients, is expressed in human epidermal and follicular keratinocytes and associates with the intermediate filament protein cytokeratin 17.
Kumar V, Pedroza LA, Mace EM, Seeholzer S, Cotsarelis G, Condino-Neto A, Payne AS, Orange JS. Kumar V, et al. Am J Pathol. 2011 Mar;178(3):983-8. doi: 10.1016/j.ajpath.2010.12.007. Am J Pathol. 2011. PMID: 21356351 Free PMC article.
Autoimmune regulator (AIRE) contributes to Dectin-1-induced TNF-α production and complexes with caspase recruitment domain-containing protein 9 (CARD9), spleen tyrosine kinase (Syk), and Dectin-1.
Pedroza LA, Kumar V, Sanborn KB, Mace EM, Niinikoski H, Nadeau K, Vasconcelos Dde M, Perez E, Jyonouchi S, Jyonouchi H, Banerjee PP, Ruuskanen O, Condino-Neto A, Orange JS. Pedroza LA, et al. J Allergy Clin Immunol. 2012 Feb;129(2):464-72, 472.e1-3. doi: 10.1016/j.jaci.2011.08.027. Epub 2011 Sep 29. J Allergy Clin Immunol. 2012. PMID: 21962774
High-performance liquid chromatography under partially denaturing conditions (dHPLC) is a fast and cost-effective method for screening molecular defects: four novel mutations found in X-linked chronic granulomatous disease.
de Oliveira-Junior EB, Prando C, Lopez JA, Arango JC, Buzolin M, Rehder J, Pedroza LA, Frazão JB, Dantas VM, Roxo-Junior P, Grumach AS, Costa-Carvalho BT, Bustamante J, Condino-Neto A. de Oliveira-Junior EB, et al. Scand J Immunol. 2012 Aug;76(2):158-66. doi: 10.1111/j.1365-3083.2012.02714.x. Scand J Immunol. 2012. PMID: 22540226 Free article.
Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity.
Willmann KL, Klaver S, Doğu F, Santos-Valente E, Garncarz W, Bilic I, Mace E, Salzer E, Conde CD, Sic H, Májek P, Banerjee PP, Vladimer GI, Haskoloğlu S, Bolkent MG, Küpesiz A, Condino-Neto A, Colinge J, Superti-Furga G, Pickl WF, van Zelm MC, Eibel H, Orange JS, Ikincioğulları A, Boztuğ K. Willmann KL, et al. Nat Commun. 2014 Nov 19;5:5360. doi: 10.1038/ncomms6360. Nat Commun. 2014. PMID: 25406581 Free PMC article.
Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations.
Miot C, Imai K, Imai C, Mancini AJ, Kucuk ZY, Kawai T, Nishikomori R, Ito E, Pellier I, Dupuis Girod S, Rosain J, Sasaki S, Chandrakasan S, Pachlopnik Schmid J, Okano T, Colin E, Olaya-Vargas A, Yamazaki-Nakashimada M, Qasim W, Espinosa Padilla S, Jones A, Krol A, Cole N, Jolles S, Bleesing J, Vraetz T, Gennery AR, Abinun M, Güngör T, Costa-Carvalho B, Condino-Neto A, Veys P, Holland SM, Uzel G, Moshous D, Neven B, Blanche S, Ehl S, Döffinger R, Patel SY, Puel A, Bustamante J, Gelfand EW, Casanova JL, Orange JS, Picard C. Miot C, et al. Blood. 2017 Sep 21;130(12):1456-1467. doi: 10.1182/blood-2017-03-771600. Epub 2017 Jul 5. Blood. 2017. PMID: 28679735 Free PMC article.
The Role of AIRE in the Immunity Against Candida Albicans in a Model of Human Macrophages.
de Albuquerque JAT, Banerjee PP, Castoldi A, Ma R, Zurro NB, Ynoue LH, Arslanian C, Barbosa-Carvalho MUW, Correia-Deur JEM, Weiler FG, Dias-da-Silva MR, Lazaretti-Castro M, Pedroza LA, Câmara NOS, Mace E, Orange JS, Condino-Neto A. de Albuquerque JAT, et al. Front Immunol. 2018 Mar 21;9:567. doi: 10.3389/fimmu.2018.00567. eCollection 2018. Front Immunol. 2018. PMID: 29666621 Free PMC article.
The International Alliance of Primary Immune Deficiency Societies.
Gennery AR, Abraham RS, Torgerson TR, Etzioni A, Cant AJ, Meyts I, Chipeta J, Bousfiha AA, Dieye TD, Condino-Neto A, Espinosa F, Besrodnik L, Lau YL, Singh S, Chan GCF, Orange JS; European Society for Immunodeficiencies; Clinical Immunology Society; African Society for Immunodeficiencies; Latin American Society for Immunodeficiencies; Asia Pacific Society for Immunodeficiencies. Gennery AR, et al. J Clin Immunol. 2018 May;38(4):447-449. doi: 10.1007/s10875-018-0517-8. Epub 2018 Jun 5. J Clin Immunol. 2018. PMID: 29872941 No abstract available.
Global systematic review of primary immunodeficiency registries.
Abolhassani H, Azizi G, Sharifi L, Yazdani R, Mohsenzadegan M, Delavari S, Sohani M, Shirmast P, Chavoshzadeh Z, Mahdaviani SA, Kalantari A, Tavakol M, Jabbari-Azad F, Ahanchian H, Momen T, Sherkat R, Sadeghi-Shabestari M, Aleyasin S, Esmaeilzadeh H, Al-Herz W, Bousfiha AA, Condino-Neto A, Seppänen M, Sullivan KE, Hammarström L, Modell V, Modell F, Quinn J, Orange JS, Aghamohammadi A. Abolhassani H, et al. Expert Rev Clin Immunol. 2020 Jul;16(7):717-732. doi: 10.1080/1744666X.2020.1801422. Expert Rev Clin Immunol. 2020. PMID: 32720819
214 results