Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

216 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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: milner jd. J Exp Med. 2020 Jun 1;217(6):e20191804. doi: 10.1084/jem.20191804. J Exp Med. 2020. PMID: 32207811 Free PMC article.
Highly variable clinical phenotypes of hypomorphic RAG1 mutations.
Avila EM, Uzel G, Hsu A, Milner JD, Turner ML, Pittaluga S, Freeman AF, Holland SM. Avila EM, et al. Among authors: milner jd. Pediatrics. 2010 Nov;126(5):e1248-52. doi: 10.1542/peds.2009-3171. Epub 2010 Oct 18. Pediatrics. 2010. PMID: 20956421
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome.
Kotlarz D, Ziętara N, Uzel G, Weidemann T, Braun CJ, Diestelhorst J, Krawitz PM, Robinson PN, Hecht J, Puchałka J, Gertz EM, Schäffer AA, Lawrence MG, Kardava L, Pfeifer D, Baumann U, Pfister ED, Hanson EP, Schambach A, Jacobs R, Kreipe H, Moir S, Milner JD, Schwille P, Mundlos S, Klein C. Kotlarz D, et al. Among authors: milner jd. J Exp Med. 2013 Mar 11;210(3):433-43. doi: 10.1084/jem.20111229. Epub 2013 Feb 25. J Exp Med. 2013. PMID: 23440042 Free PMC article.
Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.
Uzel G, Sampaio EP, Lawrence MG, Hsu AP, Hackett M, Dorsey MJ, Noel RJ, Verbsky JW, Freeman AF, Janssen E, Bonilla FA, Pechacek J, Chandrasekaran P, Browne SK, Agharahimi A, Gharib AM, Mannurita SC, Yim JJ, Gambineri E, Torgerson T, Tran DQ, Milner JD, Holland SM. Uzel G, et al. Among authors: milner jd. J Allergy Clin Immunol. 2013 Jun;131(6):1611-23. doi: 10.1016/j.jaci.2012.11.054. Epub 2013 Mar 25. J Allergy Clin Immunol. 2013. PMID: 23534974 Free PMC article.
Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism.
Hsu AP, Sowerwine KJ, Lawrence MG, Davis J, Henderson CJ, Zarember KA, Garofalo M, Gallin JI, Kuhns DB, Heller T, Milner JD, Puck JM, Freeman AF, Holland SM. Hsu AP, et al. Among authors: milner jd. J Allergy Clin Immunol. 2013 Jun;131(6):1586-93. doi: 10.1016/j.jaci.2013.02.038. Epub 2013 Apr 25. J Allergy Clin Immunol. 2013. PMID: 23623265 Free PMC article.
Peptide library-based evaluation of T-cell receptor breadth detects defects in global and regulatory activation in human immunologic diseases.
Barber JS, Yokomizo LK, Sheikh V, Freeman AF, Garabedian E, van Dijk E, Sokolic R, Candotti F, Weng NP, Sereti I, Milner JD. Barber JS, et al. Among authors: milner jd. Proc Natl Acad Sci U S A. 2013 May 14;110(20):8164-9. doi: 10.1073/pnas.1302103110. Epub 2013 May 1. Proc Natl Acad Sci U S A. 2013. PMID: 23637345 Free PMC article.
Diminished allergic disease in patients with STAT3 mutations reveals a role for STAT3 signaling in mast cell degranulation.
Siegel AM, Stone KD, Cruse G, Lawrence MG, Olivera A, Jung MY, Barber JS, Freeman AF, Holland SM, O'Brien M, Jones N, Nelson CG, Wisch LB, Kong HH, Desai A, Farber O, Gilfillan AM, Rivera J, Milner JD. Siegel AM, et al. Among authors: milner jd. J Allergy Clin Immunol. 2013 Dec;132(6):1388-96. doi: 10.1016/j.jaci.2013.08.045. Epub 2013 Nov 1. J Allergy Clin Immunol. 2013. PMID: 24184145 Free PMC article.
216 results