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413 results

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Deep immune profiling uncovers novel associations with clinical phenotypes of Multisystem Inflammatory Syndrome in Children (MIS-C).
Redmond C, Kitakule MM, Son A, Sylvester M, Sacco K, Delmonte O, Licciardi F, Castagnoli R, Poli C, Espinoza Y, Astudillo C, Weber SE, Sanchez GAM, Barron K, Magliocco M, Dobbs K, Zhang Y, Matthews H, Oguz C, Su HC, Notarangelo LD, Frischmeyer-Guerrerio PA, Schwartz DM. Redmond C, et al. Among authors: su hc. medRxiv [Preprint]. 2022 Sep 2:2022.08.31.22279265. doi: 10.1101/2022.08.31.22279265. medRxiv. 2022. Update in: Ann Rheum Dis. 2023 Mar;82(3):442-445. doi: 10.1136/ard-2022-223269 PMID: 36093351 Free PMC article. Updated. Preprint.
Second messenger role for Mg2+ revealed by human T-cell immunodeficiency.
Li FY, Chaigne-Delalande B, Kanellopoulou C, Davis JC, Matthews HF, Douek DC, Cohen JI, Uzel G, Su HC, Lenardo MJ. Li FY, et al. Among authors: su hc. Nature. 2011 Jul 27;475(7357):471-6. doi: 10.1038/nature10246. Nature. 2011. PMID: 21796205 Free PMC article.
Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.
Zhang Y, Yu X, Ichikawa M, Lyons JJ, Datta S, Lamborn IT, Jing H, Kim ES, Biancalana M, Wolfe LA, DiMaggio T, Matthews HF, Kranick SM, Stone KD, Holland SM, Reich DS, Hughes JD, Mehmet H, McElwee J, Freeman AF, Freeze HH, Su HC, Milner JD. Zhang Y, et al. Among authors: su hc. J Allergy Clin Immunol. 2014 May;133(5):1400-9, 1409.e1-5. doi: 10.1016/j.jaci.2014.02.013. Epub 2014 Feb 28. J Allergy Clin Immunol. 2014. PMID: 24589341 Free PMC article. Clinical Trial.
Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype.
Jing H, Zhang Q, Zhang Y, Hill BJ, Dove CG, Gelfand EW, Atkinson TP, Uzel G, Matthews HF, Mustillo PJ, Lewis DB, Kavadas FD, Hanson IC, Kumar AR, Geha RS, Douek DC, Holland SM, Freeman AF, Su HC. Jing H, et al. Among authors: su hc. J Allergy Clin Immunol. 2014 Jun;133(6):1667-75. doi: 10.1016/j.jaci.2014.03.025. Epub 2014 May 3. J Allergy Clin Immunol. 2014. PMID: 24797421 Free PMC article.
Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K.
Lucas CL, Zhang Y, Venida A, Wang Y, Hughes J, McElwee J, Butrick M, Matthews H, Price S, Biancalana M, Wang X, Richards M, Pozos T, Barlan I, Ozen A, Rao VK, Su HC, Lenardo MJ. Lucas CL, et al. Among authors: su hc. J Exp Med. 2014 Dec 15;211(13):2537-47. doi: 10.1084/jem.20141759. Epub 2014 Dec 8. J Exp Med. 2014. PMID: 25488983 Free PMC article.
Novel PIK3CD mutations affecting N-terminal residues of p110δ cause activated PI3Kδ syndrome (APDS) in humans.
Takeda AJ, Zhang Y, Dornan GL, Siempelkamp BD, Jenkins ML, Matthews HF, McElwee JJ, Bi W, Seeborg FO, Su HC, Burke JE, Lucas CL. Takeda AJ, et al. Among authors: su hc. J Allergy Clin Immunol. 2017 Oct;140(4):1152-1156.e10. doi: 10.1016/j.jaci.2017.03.026. Epub 2017 Apr 13. J Allergy Clin Immunol. 2017. PMID: 28414062 Free PMC article. No abstract available.
A Unique Heterozygous CARD11 Mutation Combines Pathogenic Features of Both Gain- and Loss-of-Function Patients in a Four-Generation Family.
Desjardins M, Arjunaraja S, Stinson JR, Dorjbal B, Sundaresan J, Niemela J, Raffeld M, Matthews HF, Wang A, Angelus P, Su HC, Mazer BD, Snow AL. Desjardins M, et al. Among authors: su hc. Front Immunol. 2018 Dec 12;9:2944. doi: 10.3389/fimmu.2018.02944. eCollection 2018. Front Immunol. 2018. PMID: 30619304 Free PMC article.
413 results