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Page 1
Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome.
Aird A, Lagos M, Vargas-Hernández A, Posey JE, Coban-Akdemir Z, Jhangiani S, Mace EM, Reyes A, King A, Cavagnaro F, Forbes LR, Chinn IK, Lupski JR, Orange JS, Poli MC. Aird A, et al. Among authors: king a. Front Pediatr. 2019 Jul 30;7:303. doi: 10.3389/fped.2019.00303. eCollection 2019. Front Pediatr. 2019. PMID: 31417880 Free PMC article.
[Severe combined immunodeficiency, report of chilean patients diagnosed during the 1999-2020 period].
Hoyos-Bachiloglu R, Rojas J, Borzutzky A, Hernández P, Vinet AM, Bustos P, Fernández F, Lagos M, Strickler A, Marinovic MA, Casado C, Poli MC, King A. Hoyos-Bachiloglu R, et al. Among authors: king a. Rev Chil Pediatr. 2020 Dec;91(6):908-916. doi: 10.32641/rchped.vi91i6.2580. Epub 2020 Oct 21. Rev Chil Pediatr. 2020. PMID: 33861827 Free article. Spanish.
First report of the Hyper-IgM syndrome Registry of the Latin American Society for Immunodeficiencies: novel mutations, unique infections, and outcomes.
Cabral-Marques O, Klaver S, Schimke LF, Ascendino ÉH, Khan TA, Pereira PV, Falcai A, Vargas-Hernández A, Santos-Argumedo L, Bezrodnik L, Moreira I, Seminario G, Di Giovanni D, Raccio AG, Porras O, Weber CW, Ferreira JF, Tavares FS, de Carvalho E, Valente CF, Kuntze G, Galicchio M, King A, Rosário-Filho NA, Grota MB, dos Santos Vilela MM, Di Gesu RS, Lima S, de Souza Moura L, Talesnik E, Mansour E, Roxo-Junior P, Aldave JC, Goudouris E, Pinto-Mariz F, Berrón-Ruiz L, Staines-Boone T, Calderón WO, del Carmen Zarate-Hernández M, Grumach AS, Sorensen R, Durandy A, Torgerson TR, Carvalho BT, Espinosa-Rosales F, Ochs HD, Condino-Neto A. Cabral-Marques O, et al. Among authors: king a. J Clin Immunol. 2014 Feb;34(2):146-56. doi: 10.1007/s10875-013-9980-4. Epub 2014 Jan 9. J Clin Immunol. 2014. PMID: 24402618
Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content.
Dobbs K, Tabellini G, Calzoni E, Patrizi O, Martinez P, Giliani SC, Moratto D, Al-Herz W, Cancrini C, Cowan M, Bleesing J, Booth C, Buchbinder D, Burns SO, Chatila TA, Chou J, Daza-Cajigal V, Ott de Bruin LM, de la Morena M, Di Matteo G, Finocchi A, Geha R, Goyal RK, Hayward A, Holland S, Huang CH, Kanariou MG, King A, Kaplan B, Kleva A, Kuijpers TW, Lee BW, Lougaris V, Massaad M, Meyts I, Morsheimer M, Neven B, Pai SY, Parvaneh N, Plebani A, Prockop S, Reisli I, Soh JY, Somech R, Torgerson TR, Kim YJ, Walter JE, Gennery AR, Keles S, Manis JP, Marcenaro E, Moretta A, Parolini S, Notarangelo LD. Dobbs K, et al. Among authors: king a. Front Immunol. 2017 Jul 17;8:798. doi: 10.3389/fimmu.2017.00798. eCollection 2017. Front Immunol. 2017. PMID: 28769923 Free PMC article.
Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades.
Lacassie Y, Johnson B, Lay-Son G, Quintana R, King A, Cortes F, Alvarez C, Gomez R, Vargas A, Chalew S, King A, Guardia S, Sorensen RU, Aradhya S. Lacassie Y, et al. Among authors: king a. Am J Med Genet A. 2020 Jul;182(7):1767-1775. doi: 10.1002/ajmg.a.61597. Epub 2020 Apr 16. Am J Med Genet A. 2020. PMID: 32297715
Critical issues and needs in management of primary immunodeficiency diseases in Latin America.
Condino-Neto A, Franco JL, Trujillo-Vargas C, Espinosa-Rosales FJ, Leiva LE, Rodriguez-Quiroz F, King A, Lagos M, Oleastro M, Bezrodnik L, Grumach AS, Costa-Carvalho BT, Sorensen RU. Condino-Neto A, et al. Among authors: king a. Allergol Immunopathol (Madr). 2011 Jan-Feb;39(1):45-51. doi: 10.1016/j.aller.2010.09.001. Epub 2010 Dec 16. Allergol Immunopathol (Madr). 2011. PMID: 21167629
Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content.
Dobbs K, Tabellini G, Calzoni E, Patrizi O, Martinez P, Giliani SC, Moratto D, Al-Herz W, Cancrini C, Cowan M, Bleesing J, Booth C, Buchbinder D, Burns SO, Chatila TA, Chou J, Daza-Cajigal V, Ott de Bruin LM, de la Morena MT, Di Matteo G, Finocchi A, Geha R, Goyal RK, Hayward A, Holland S, Huang CH, Kanariou MG, King A, Kaplan B, Kleva A, Kuijpers TW, Lee BW, Lougaris V, Massaad M, Meyts I, Morsheimer M, Neven B, Pai SY, Parvaneh N, Plebani A, Prockop S, Reisli I, Soh JY, Somech R, Torgerson TR, Kim YJ, Walter JE, Gennery AR, Keles S, Manis JP, Marcenaro E, Moretta A, Parolini S, Notarangelo LD. Dobbs K, et al. Among authors: king a. Front Immunol. 2017 Oct 10;8:1244. doi: 10.3389/fimmu.2017.01244. eCollection 2017. Front Immunol. 2017. PMID: 29042861 Free PMC article.
Latin American consensus on the supportive management of patients with severe combined immunodeficiency.
Bustamante Ogando JC, Partida Gaytán A, Aldave Becerra JC, Álvarez Cardona A, Bezrodnik L, Borzutzky A, Blancas Galicia L, Cabanillas D, Condino-Neto A, De Colsa Ranero A, Espinosa Padilla S, Fernandes JF, García Campos JA, Gómez Tello H, González Serrano ME, Gutiérrez Hernández A, Hernández Bautista VM, Ivankovich Escoto G, King A, Lessa Mazzucchelli J, Llamas Guillén BA, Lugo Reyes SO, Moreno Espinosa S, Oleastro M, Otero Mendoza F, Poli Harlowe MC, Porras O, Ramirez Uribe N, Regairaz L, Rivas Larrauri F, Saracho Weber FJ, Grumach AS, Staines Boone T, Tavares Costa-Carvalho B, Yamazaki Nakashimada MA, Espinosa Rosales FJ. Bustamante Ogando JC, et al. Among authors: king a. J Allergy Clin Immunol. 2019 Oct;144(4):897-905. doi: 10.1016/j.jaci.2019.08.002. Epub 2019 Aug 13. J Allergy Clin Immunol. 2019. PMID: 31419546
6,206 results