Anne Puel
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Explore the profile of Anne Puel including associated specialties, affiliations and a list of published articles.
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272
Citations
17725
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Recent Articles
1.
Riller Q, Sorin B, Courteille C, Ho-Nhat D, Le Voyer T, Debray J, et al.
J Exp Med
. 2025 Jan;
222(2.
PMID: 39812688
IKKα, encoded by CHUK, is crucial in the non-canonical NF-κB pathway and part of the IKK complex activating the canonical pathway alongside IKKβ. The absence of IKKα causes fetal encasement...
2.
Stewart O, Gruber C, Randolph H, Patel R, Ramba M, Calzoni E, et al.
Nature
. 2025 Jan;
637(8048):1186-1197.
PMID: 39743591
Inborn errors of immunity (IEIs) are genetic disorders that underlie susceptibility to infection, autoimmunity, autoinflammation, allergy and/or malignancy. Incomplete penetrance is common among IEIs despite their monogenic basis. Here we...
3.
Boisson-Dupuis S, Bastard P, Beziat V, Bustamante J, Cobat A, Jouanguy E, et al.
J Allergy Clin Immunol
. 2024 Dec;
155(3):768-783.
PMID: 39724971
The spectrum of known monogenic inborn errors of immunity is growing, with certain disorders underlying a specific and narrow range of infectious diseases. These disorders reveal the core mechanisms by...
4.
Rao G, Mack C, Nguyen T, Wong N, Payne K, Worley L, et al.
J Allergy Clin Immunol
. 2024 Dec;
PMID: 39622295
Background: CD4 T cells play essential roles in adaptive immunity. Distinct CD4 T-cell subsets-T1, T2, T17, T22, T follicular helper, and regulatory T cells-have been identified, and their contributions to...
5.
Baran A, Atilgan Lulecioglu A, Gao L, Yazici Y, Demirel F, Metin A, et al.
J Clin Immunol
. 2024 Nov;
45(1):48.
PMID: 39579251
We studied a family with three male individuals across two generations affected by common variable immune deficiency (CVID). We identified a novel missense heterozygous variant (c.2602T>A:p.Y868N) of NFKB2 in all...
6.
Le Stang V, Bastard P, Langouet E, De Chambrun M, Chommeloux J, Gervais A, et al.
J Clin Immunol
. 2024 Nov;
45(1):45.
PMID: 39565497
Purpose: The pathogenesis of life-threatening coronavirus disease 2019 (COVID-19) pneumonia in ICU patients can involve pre-existing auto-antibodies (auto-Abs) neutralizing type I interferons (IFNs). The impact of these auto-Abs on SARS-CoV-2...
7.
Gervais A, Bastard P, Bizien L, Delifer C, Tiberghien P, Rodrigo C, et al.
J Exp Med
. 2024 Nov;
221(12.
PMID: 39485284
Arboviral diseases are a growing global health concern. Pre-existing autoantibodies (auto-Abs) neutralizing type I interferons (IFNs) can underlie encephalitis due to West Nile virus (WNV) (∼40% of patients) and tick-borne...
8.
Fadil I, Benhsaien I, El Bakkouri J, Jeddane L, Benaajiba N, Rada N, et al.
Tunis Med
. 2024 Oct;
102(10):696-701.
PMID: 39441153
Introduction: Hyper-IgE syndrome is a group of inborn errors of immunity, some of which are syndromic, characterized clinically by the classic triad of chronic eczema, cutaneous and/or pulmonary staphylococcal infections...
9.
Bohlen J, Bagaric I, Vatovec T, Ogishi M, Ahmed S, Cederholm A, et al.
J Clin Invest
. 2024 Oct;
134(20).
PMID: 39403923
Patients heterozygous for germline CBL loss-of-function (LOF) variants can develop myeloid malignancy, autoinflammation, or both, if some or all of their leukocytes become homozygous for these variants through somatic loss...
10.
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases
Rosain J, Le Voyer T, Liu X, Gervais A, Polivka L, Cederholm A, et al.
J Exp Med
. 2024 Oct;
221(11).
PMID: 39352576
Human inborn errors of thymic T cell tolerance underlie the production of autoantibodies (auto-Abs) neutralizing type I IFNs, which predispose to severe viral diseases. We analyze 131 female patients with...