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

24 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing.
Fusaro M, Rosain J, Grandin V, Lambert N, Hanein S, Fourrage C, Renaud N, Gil M, Chevalier S, Chahla WA, Bader-Meunier B, Barlogis V, Blanche S, Boutboul D, Castelle M, Comont T, Diana JS, Fieschi C, Galicier L, Hermine O, Lefèvre-Utile A, Malphettes M, Merlin E, Oksenhendler E, Pasquet M, Suarez F, André I, Béziat V, De Saint Basile G, De Villartay JP, Kracker S, Lagresle-Peyrou C, Latour S, Rieux-Laucat F, Mahlaoui N, Bole C, Nitschke P, Hulier-Ammar E, Fischer A, Moshous D, Neven B, Alcais A, Vogt G, Bustamante J, Picard C. Fusaro M, et al. J Allergy Clin Immunol. 2021 Feb;147(2):734-737. doi: 10.1016/j.jaci.2020.05.046. Epub 2020 Jun 10. J Allergy Clin Immunol. 2021. PMID: 32531373 No abstract available.
Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons.
Bolze A, Boisson B, Bosch B, Antipenko A, Bouaziz M, Sackstein P, Chaker-Margot M, Barlogis V, Briggs T, Colino E, Elmore AC, Fischer A, Genel F, Hewlett A, Jedidi M, Kelecic J, Krüger R, Ku CL, Kumararatne D, Lefevre-Utile A, Loughlin S, Mahlaoui N, Markus S, Garcia JM, Nizon M, Oleastro M, Pac M, Picard C, Pollard AJ, Rodriguez-Gallego C, Thomas C, Von Bernuth H, Worth A, Meyts I, Risolino M, Selleri L, Puel A, Klinge S, Abel L, Casanova JL. Bolze A, et al. Proc Natl Acad Sci U S A. 2018 Aug 21;115(34):E8007-E8016. doi: 10.1073/pnas.1805437115. Epub 2018 Aug 2. Proc Natl Acad Sci U S A. 2018. PMID: 30072435 Free PMC article.
A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance.
Khourieh J, Rao G, Habib T, Avery DT, Lefèvre-Utile A, Chandesris MO, Belkadi A, Chrabieh M, Alwaseem H, Grandin V, Sarrot-Reynauld F, Sénéchal A, Lortholary O, Kong XF, Boisson-Dupuis S, Picard C, Puel A, Béziat V, Zhang Q, Abel L, Molina H, Marr N, Tangye SG, Casanova JL, Boisson B. Khourieh J, et al. Proc Natl Acad Sci U S A. 2019 Aug 13;116(33):16463-16472. doi: 10.1073/pnas.1901409116. Epub 2019 Jul 25. Proc Natl Acad Sci U S A. 2019. PMID: 31346092 Free PMC article.
Different Clinical Presentations and Outcomes of Disseminated Varicella in Children With Primary and Acquired Immunodeficiencies.
Bastard P, Galerne A, Lefevre-Utile A, Briand C, Baruchel A, Durand P, Landman-Parker J, Gouache E, Boddaert N, Moshous D, Gaudelus J, Cohen R, Deschenes G, Fischer A, Blanche S, de Pontual L, Neven B. Bastard P, et al. Front Immunol. 2020 Nov 5;11:595478. doi: 10.3389/fimmu.2020.595478. eCollection 2020. Front Immunol. 2020. PMID: 33250898 Free PMC article.
Circulating cell-free BRAFV600E as a biomarker in children with Langerhans cell histiocytosis.
Héritier S, Hélias-Rodzewicz Z, Lapillonne H, Terrones N, Garrigou S, Normand C, Barkaoui MA, Miron J, Plat G, Aladjidi N, Pagnier A, Deville A, Gillibert-Yvert M, Moshous D, Lefèvre-Utile A, Lutun A, Paillard C, Thomas C, Jeziorski E, Nizard P, Taly V, Emile JF, Donadieu J. Héritier S, et al. Br J Haematol. 2017 Aug;178(3):457-467. doi: 10.1111/bjh.14695. Epub 2017 Apr 25. Br J Haematol. 2017. PMID: 28444728 Free article.
Association of atypical skin manifestations at the onset of systemic juvenile idiopathic arthritis with difficult-to-treat disease: A retrospective multicenter study.
Eveillard LA, Quartier P, Ouldali N, Bader-Meunier B, Aeschlimann F, Abasq C, Ballot C, Bouric P, Desdoits A, Dumaine C, Galeotti C, Hentgen V, Lefevre-Utile A, Chausset A, Hubiche T, Kupfer-Bessaguet I, Leclerq-Mercier S, Mallet S, Melki I, Merlin E, Miquel J, Piram M, Talmud D, Garcelon N, Vinit C, Welfringer A, Bourrat E, Meinzer U; Groupe de recherche de la Société Française de Dermatologie Pédiatrique (SFDP); Société Francophone pour la rhumatologie et les Maladies Inflammatoires en Pédiatrie (SOFREMIP). Eveillard LA, et al. Among authors: lefevre utile a. J Am Acad Dermatol. 2022 Dec;87(6):1425-1428. doi: 10.1016/j.jaad.2022.07.055. Epub 2022 Aug 10. J Am Acad Dermatol. 2022. PMID: 35963289 No abstract available.
24 results