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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.
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.
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
Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy.
Sharma M, Fu MP, Lu HY, Sharma AA, Modi BP, Michalski C, Lin S, Dalmann J, Salman A, Del Bel KL, Waqas M, Terry J, Setiadi A, Lavoie PM, Wasserman WW, Mwenifumbo J, Kobor MS, Lee AF, Kuchenbauer F, Lehman A, Cheng S, Cooper A, Patel MS, Turvey SE. Sharma M, et al. Among authors: sharma aa. Blood. 2022 Oct 27;140(17):1858-1874. doi: 10.1182/blood.2022015674. Blood. 2022. PMID: 35789258 Free article.
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