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A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency.
Kuehn HS, Bernasconi A, Niemela JE, Almejun MB, Gallego WAF, Goel S, Stoddard JL, Sánchez RGP, Franco CAA, Oleastro M, Grunebaum E, Ballas Z, Cunningham-Rundles C, Fleisher TA, Franco JL, Danielian S, Rosenzweig SD. Kuehn HS, et al. Among authors: bernasconi a. J Clin Immunol. 2020 Nov;40(8):1093-1101. doi: 10.1007/s10875-020-00842-2. Epub 2020 Aug 19. J Clin Immunol. 2020. PMID: 32813180 Free PMC article.
Correction to: A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency.
Kuehn HS, Bernasconi A, Niemela JE, Almejun MB, Gallego WAF, Goel S, Stoddard JL, Sánchez RGP, Franco CAA, Oleastro M, Grunebaum E, Ballas Z, Cunningham-Rundles C, Fleisher TA, Franco JL, Danielian S, Rosenzweig SD. Kuehn HS, et al. Among authors: bernasconi a. J Clin Immunol. 2020 Nov;40(8):1102. doi: 10.1007/s10875-020-00860-0. J Clin Immunol. 2020. PMID: 32901356 Free PMC article.
Germline hypomorphic CARD11 mutations in severe atopic disease.
Ma CA, Stinson JR, Zhang Y, Abbott JK, Weinreich MA, Hauk PJ, Reynolds PR, Lyons JJ, Nelson CG, Ruffo E, Dorjbal B, Glauzy S, Yamakawa N, Arjunaraja S, Voss K, Stoddard J, Niemela J, Zhang Y, Rosenzweig SD, McElwee JJ, DiMaggio T, Matthews HF, Jones N, Stone KD, Palma A, Oleastro M, Prieto E, Bernasconi AR, Dubra G, Danielian S, Zaiat J, Marti MA, Kim B, Cooper MA, Romberg N, Meffre E, Gelfand EW, Snow AL, Milner JD. Ma CA, et al. Among authors: bernasconi ar. Nat Genet. 2017 Aug;49(8):1192-1201. doi: 10.1038/ng.3898. Epub 2017 Jun 19. Nat Genet. 2017. PMID: 28628108 Free PMC article.
Pulmonary Alveolar Proteinosis and Multiple Infectious Diseases in a Child with Autosomal Recessive Complete IRF8 Deficiency.
Rosain J, Bernasconi A, Prieto E, Caputi L, Le Voyer T, Buda G, Marti M, Bohlen J, Neehus AL, Castaños C, Gallagher R, Dorgham K, Oleastro M, Perez L, Danielian S, Dipierri JE, Casanova JL, Bustamante J, Villa M. Rosain J, et al. Among authors: bernasconi a. J Clin Immunol. 2022 Jul;42(5):975-985. doi: 10.1007/s10875-022-01250-4. Epub 2022 Mar 26. J Clin Immunol. 2022. PMID: 35338423 Free PMC article.
Inherited p40phox deficiency differs from classic chronic granulomatous disease.
van de Geer A, Nieto-Patlán A, Kuhns DB, Tool AT, Arias AA, Bouaziz M, de Boer M, Franco JL, Gazendam RP, van Hamme JL, van Houdt M, van Leeuwen K, Verkuijlen PJ, van den Berg TK, Alzate JF, Arango-Franco CA, Batura V, Bernasconi AR, Boardman B, Booth C, Burns SO, Cabarcas F, Bensussan NC, Charbit-Henrion F, Corveleyn A, Deswarte C, Azcoiti ME, Foell D, Gallin JI, Garcés C, Guedes M, Hinze CH, Holland SM, Hughes SM, Ibañez P, Malech HL, Meyts I, Moncada-Velez M, Moriya K, Neves E, Oleastro M, Perez L, Rattina V, Oleaga-Quintas C, Warner N, Muise AM, López JS, Trindade E, Vasconcelos J, Vermeire S, Wittkowski H, Worth A, Abel L, Dinauer MC, Arkwright PD, Roos D, Casanova JL, Kuijpers TW, Bustamante J. van de Geer A, et al. Among authors: bernasconi ar. J Clin Invest. 2018 Aug 31;128(9):3957-3975. doi: 10.1172/JCI97116. Epub 2018 Aug 6. J Clin Invest. 2018. PMID: 29969437 Free PMC article.
A 475 years-old founder effect involving IL12RB1: a highly prevalent mutation conferring Mendelian Susceptibility to Mycobacterial Diseases in European descendants.
Yancoski J, Rocco C, Bernasconi A, Oleastro M, Bezrodnik L, Vrátnica C, Haerynck F, Rosenzweig SD. Yancoski J, et al. Among authors: bernasconi a. Infect Genet Evol. 2009 Jul;9(4):574-80. doi: 10.1016/j.meegid.2009.02.010. Epub 2009 Mar 9. Infect Genet Evol. 2009. PMID: 19460324 Free PMC article.
475 results