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A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency.
IRF4 International Consortium; Fornes O, Jia A, Kuehn HS, Min Q, Pannicke U, Schleussner N, Thouenon R, Yu Z, de Los Angeles Astbury M, Biggs CM, Galicchio M, Garcia-Campos JA, Gismondi S, Gonzalez Villarreal G, Hildebrand KJ, Hönig M, Hou J, Moshous D, Pittaluga S, Qian X, Rozmus J, Schulz AS, Staines-Boone AT, Sun B, Sun J, Uwe S, Venegas-Montoya E, Wang W, Wang X, Ying W, Zhai X, Zhou Q, Akalin A, André I, Barth TFE, Baumann B, Brüstle A, Burgio G, Bustamante JC, Casanova JL, Casarotto MG, Cavazzana M, Chentout L, Cockburn IA, Costanza M, Cui C, Daumke O, Del Bel KL, Eibel H, Feng X, Franke V, Gebhardt JCM, Götz A, Grunwald S, Hoareau B, Hughes TR, Jacobsen EM, Janz M, Jolma A, Lagresle-Peyrou C, Lai N, Li Y, Lin S, Lu HY, Lugo-Reyes SO, Meng X, Möller P, Moreno-Corona N, Niemela JE, Novakovsky G, Perez-Caraballo JJ, Picard C, Poggi L, Puig-Lombardi ME, Randall KL, Reisser A, Schmitt Y, Seneviratne S, Sharma M, Stoddard J, Sundararaj S, Sutton H, Tran LQ, Wang Y, Wasserman WW, Wen Z, Winkler W, Xiong E, Yang AWH, Yu M, Zhang L, Zhang H, Zhao Q, Zhen X, Enders A, Kracker S, Martinez-Barricarte R, Mathas S, Rosenzweig SD, Schwarz K, Turvey SE, Wang JY. IRF4 International Consortium, et al. Among authors: sharma m. Sci Immunol. 2023 Jan 20;8(79):eade7953. doi: 10.1126/sciimmunol.ade7953. Epub 2023 Jan 20. Sci Immunol. 2023. PMID: 36662884 Free PMC article.
Germline CBM-opathies: From immunodeficiency to atopy.
Lu HY, Biggs CM, Blanchard-Rohner G, Fung SY, Sharma M, Turvey SE. Lu HY, et al. Among authors: sharma m. J Allergy Clin Immunol. 2019 May;143(5):1661-1673. doi: 10.1016/j.jaci.2019.03.009. J Allergy Clin Immunol. 2019. PMID: 31060714 Review.
A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases.
Novice T, Kariminia A, Del Bel KL, Lu H, Sharma M, Lim CJ, Read J, Lugt MV, Hannibal MC, O'Dwyer D, Hosler M, Scharnitz T, Rizzo JM, Zacur J, Priatel J, Abdossamadi S, Bohm A, Junker A, Turvey SE, Schultz KR, Rozmus J. Novice T, et al. Among authors: sharma m. J Clin Immunol. 2020 Feb;40(2):267-276. doi: 10.1007/s10875-019-00731-3. Epub 2019 Dec 19. J Clin Immunol. 2020. PMID: 31853824 Free PMC article.
Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy.
Modi BP, Del Bel KL, Lin S, Sharma M, Richmond PA, van Karnebeek CDM, Chan ES, Avinashi V, Rehmus WE, Biggs CM, Wasserman WW, Turvey SE. Modi BP, et al. Among authors: sharma m. Allergy Asthma Clin Immunol. 2021 Jan 14;17(1):9. doi: 10.1186/s13223-021-00510-z. Allergy Asthma Clin Immunol. 2021. PMID: 33446255 Free PMC article.
Idiopathic splenomegaly in childhood and the spectrum of RAS-associated lymphoproliferative disease: a case report.
Blanchard-Rohner G, Ragotte RJ, Junker AK, Sharma M, Del Bel KL, Lu HY, Erdle S, Chomyn A, Gill H, Tucker LB, Schreiber RA, Rozmus J, Biggs CM, Hildebrand KJ, Wu J, Stockler-Ipsiroglu S, Turvey SE. Blanchard-Rohner G, et al. Among authors: sharma m. BMC Pediatr. 2021 Jan 21;21(1):45. doi: 10.1186/s12887-021-02508-3. BMC Pediatr. 2021. PMID: 33472608 Free PMC article.
Mechanistic understanding of the combined immunodeficiency in complete human CARD11 deficiency.
Lu HY, Sharma M, Sharma AA, Lacson A, Szpurko A, Luider J, Dharmani-Khan P, Shameli A, Bell PA, Guilcher GMT, Lewis VA, Vasquez MR, Desai S, McGonigle L, Murguia-Favela L, Wright NAM, Sergi C, Wine E, Overall CM, Suresh S, Turvey SE. Lu HY, et al. Among authors: sharma m, sharma aa. J Allergy Clin Immunol. 2021 Dec;148(6):1559-1574.e13. doi: 10.1016/j.jaci.2021.04.006. Epub 2021 Apr 17. J Allergy Clin Immunol. 2021. PMID: 33872653
Inborn errors of immunity manifesting as atopic disorders.
Vaseghi-Shanjani M, Smith KL, Sara RJ, Modi BP, Branch A, Sharma M, Lu HY, James EL, Hildebrand KJ, Biggs CM, Turvey SE. Vaseghi-Shanjani M, et al. Among authors: sharma m. J Allergy Clin Immunol. 2021 Nov;148(5):1130-1139. doi: 10.1016/j.jaci.2021.08.008. Epub 2021 Aug 21. J Allergy Clin Immunol. 2021. PMID: 34428518
9,568 results