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Hermansky-Pudlak syndrome type 1 causes impaired anti-microbial immunity and inflammation due to dysregulated immunometabolism.
Cavounidis A, Pandey S, Capitani M, Friedrich M, Cross A, Gartner L, Aschenbrenner D, Kim-Schulze S, Lam YK, Berridge G, McGovern DPB, Kessler B, Fischer R, Klenerman P, Hester J, Issa F, Torres EA, Powrie F, Gochuico BR, Gahl WA, Cohen L, Uhlig HH. Cavounidis A, et al. Among authors: gartner l. Mucosal Immunol. 2022 Jun;15(6):1431-1446. doi: 10.1038/s41385-022-00572-1. Epub 2022 Oct 27. Mucosal Immunol. 2022. PMID: 36302964 Free PMC article.
Pathogenic Interleukin-10 Receptor Alpha Variants in Humans - Balancing Natural Selection and Clinical Implications.
Aschenbrenner D, Ye Z, Zhou Y, Hu W, Brooks I, Williams I, Capitani M, Gartner L, Kotlarz D, Snapper SB, Klein C, Muise AM, Marsden BD, Huang Y, Uhlig HH. Aschenbrenner D, et al. Among authors: gartner l. J Clin Immunol. 2023 Feb;43(2):495-511. doi: 10.1007/s10875-022-01366-7. Epub 2022 Nov 12. J Clin Immunol. 2023. PMID: 36370291 Free PMC article.
Biallelic TLR4 deficiency in humans.
Capitani M, Al-Shaibi AA, Pandey S, Gartner L, Taylor H, Hubrack SZ, Agrebi N, Al-Mohannadi MJ, Al Kaabi S, Vogl T, Roth J, Kotlarz D, Klein C, Charles AK, Vijayakumar V, Karim MY, George B, Travis SP, Elawad M, Lo B, Uhlig HH. Capitani M, et al. Among authors: gartner l. J Allergy Clin Immunol. 2023 Mar;151(3):783-790.e5. doi: 10.1016/j.jaci.2022.08.030. Epub 2022 Nov 30. J Allergy Clin Immunol. 2023. PMID: 36462956 Free article.
Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome.
Chen YH, Zastrow DB, Metcalfe RD, Gartner L, Krause F, Morton CJ, Marwaha S, Fresard L, Huang Y, Zhao C, McCormack C, Bick D, Worthey EA, Eng CM, Gold J, Undiagnosed Diseases Network, Montgomery SB, Fisher PG, Ashley EA, Wheeler MT, Parker MW, Shanmugasundaram V, Putoczki TL, Schmidt-Arras D, Laurence A, Bernstein JA, Griffin MDW, Uhlig HH. Chen YH, et al. Among authors: gartner l. J Allergy Clin Immunol. 2021 Aug;148(2):585-598. doi: 10.1016/j.jaci.2021.02.044. Epub 2021 Mar 23. J Allergy Clin Immunol. 2021. PMID: 33771552 Clinical Trial.
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.
Béziat V, Tavernier SJ, Chen YH, Ma CS, Materna M, Laurence A, Staal J, Aschenbrenner D, Roels L, Worley L, Claes K, Gartner L, Kohn LA, De Bruyne M, Schmitz-Abe K, Charbonnier LM, Keles S, Nammour J, Vladikine N, Maglorius Renkilaraj MRL, Seeleuthner Y, Migaud M, Rosain J, Jeljeli M, Boisson B, Van Braeckel E, Rosenfeld JA, Dai H, Burrage LC, Murdock DR, Lambrecht BN, Avettand-Fenoel V, Vogel TP; Undiagnosed Diseases Network; Esther CR, Haskologlu S, Dogu F, Ciznar P, Boutboul D, Ouachée-Chardin M, Amourette J, Lebras MN, Gauvain C, Tcherakian C, Ikinciogullari A, Beyaert R, Abel L, Milner JD, Grimbacher B, Couderc LJ, Butte MJ, Freeman AF, Catherinot É, Fieschi C, Chatila TA, Tangye SG, Uhlig HH, Haerynck F, Casanova JL, Puel A. Béziat V, et al. Among authors: gartner l. J Exp Med. 2020 Jun 1;217(6):e20191804. doi: 10.1084/jem.20191804. J Exp Med. 2020. PMID: 32207811 Free PMC article.
The Childhood Acute Illness and Nutrition (CHAIN) network nested case-cohort study protocol: a multi-omics approach to understanding mortality among children in sub-Saharan Africa and South Asia.
Njunge JM, Tickell K, Diallo AH, Sayeem Bin Shahid ASM, Gazi MA, Saleem A, Kazi Z, Ali S, Tigoi C, Mupere E, Lancioni CL, Yoshioka E, Chisti MJ, Mburu M, Ngari M, Ngao N, Gichuki B, Omer E, Gumbi W, Singa B, Bandsma R, Ahmed T, Voskuijl W, Williams TN, Macharia A, Makale J, Mitchel A, Williams J, Gogain J, Janjic N, Mandal R, Wishart DS, Wu H, Xia L, Routledge M, Gong YY, Espinosa C, Aghaeepour N, Liu J, Houpt E, Lawley TD, Browne H, Shao Y, Rwigi D, Kariuki K, Kaburu T, Uhlig HH, Gartner L, Jones K, Koulman A, Walson J, Berkley J. Njunge JM, et al. Among authors: gartner l. Gates Open Res. 2022 Nov 3;6:77. doi: 10.12688/gatesopenres.13635.2. eCollection 2022. Gates Open Res. 2022. PMID: 36415883 Free PMC article.
Correction: Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.
Béziat V, Tavernier SJ, Chen YH, Ma CS, Materna M, Laurence A, Staal J, Aschenbrenner D, Roels L, Worley L, Claes K, Gartner L, Kohn LA, De Bruyne M, Schmitz-Abe K, Charbonnier LM, Keles S, Nammour J, Vladikine N, Luxman Maglorius Renkilaraj MR, Seeleuthner Y, Migaud M, Rosain J, Jeljeli M, Boisson B, Van Braeckel E, Rosenfeld JA, Dai H, Burrage LC, Murdock DR, Lambrecht BN, Avettand-Fenoel V, Vogel TP, Network UD, Esther CR, Haskologlu S, Dogu F, Ciznar P, Boutboul D, Ouachée-Chardin M, Amourette J, Lebras MN, Gauvain C, Tcherakian C, Ikinciogullari A, Beyaert R, Abel L, Milner JD, Grimbacher B, Couderc LJ, Butte MJ, Freeman AF, Catherinot É, Fieschi C, Chatila TA, Tangye SG, Uhlig HH, Haerynck F, Casanova JL, Puel A. Béziat V, et al. Among authors: gartner l. J Exp Med. 2020 Jun 1;217(7):e2019180405272020c. doi: 10.1084/jem.2019180405272020c. J Exp Med. 2020. PMID: 32516385 Free PMC article. No abstract available.
263 results