A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity
Heterozygosity for human signal transducer and activator of transcription 3 (STAT3)
dominant-negative (DN) mutations underlies an autosomal dominant form of hyper–immunoglobulin …
dominant-negative (DN) mutations underlies an autosomal dominant form of hyper–immunoglobulin …
[HTML][HTML] Inherited human IFN-γ deficiency underlies mycobacterial disease
G Kerner, J Rosain, A Guérin… - The Journal of …, 2020 - Am Soc Clin Investig
Mendelian susceptibility to mycobacterial disease (MSMD) is characterized by a selective
predisposition to clinical disease caused by the Bacille Calmette-Guérin (BCG) vaccine and …
predisposition to clinical disease caused by the Bacille Calmette-Guérin (BCG) vaccine and …
Mycobacterial disease in patients with chronic granulomatous disease: a retrospective analysis of 71 cases
…, M Hubeau, N Karaca, M de Suremain, A Guérin… - Journal of Allergy and …, 2016 - Elsevier
… PhD a b g , Caroline Deswarte MSc a b , Marjorie Hubeau PhD a b , Neslihan Karaca MD
f , Maylis de Suremain AS a b , Antoine Guérin MSc a b , Laila Ait Baba PhD h , Carolina …
f , Maylis de Suremain AS a b , Antoine Guérin MSc a b , Laila Ait Baba PhD h , Carolina …
Caractérisation quantitative des aléas rocheux de départ diffus
…, C Lévy, JP Rossetti, A Guerin… - Revue française …, 2020 - geotechnique-journal.org
L’article décrit les différentes approches permettant d’estimer la fréquence de départ des
éboulements ou des blocs dans le cas d’un aléa diffus, dans l’objectif de quantifier l’aléa …
éboulements ou des blocs dans le cas d’un aléa diffus, dans l’objectif de quantifier l’aléa …
Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance
…, D Hum, M Chrabieh, JE Han, A Guérin… - Journal of Experimental …, 2021 - rupress.org
Most patients with autosomal dominant hyper-IgE syndrome (AD-HIES) carry rare heterozygous
STAT3 variants. Only six of the 135 in-frame variants reported have been experimentally …
STAT3 variants. Only six of the 135 in-frame variants reported have been experimentally …
Assessing rockfall susceptibility in steep and overhanging slopes using three-dimensional analysis of failure mechanisms
…, M Jaboyedoff, D Carrea, BD Collins, A Guérin… - Landslides, 2018 - Springer
Rockfalls strongly influence the evolution of steep rocky landscapes and represent a significant
hazard in mountainous areas. Defining the most probable future rockfall source areas is …
hazard in mountainous areas. Defining the most probable future rockfall source areas is …
IRF4 haploinsufficiency in a family with Whipple's disease
10.7554/eLife.32340.001 Most humans are exposed to Tropheryma whipplei (Tw). Whipple’s
disease (WD) strikes only a small minority of individuals infected with Tw (<0.01%), …
disease (WD) strikes only a small minority of individuals infected with Tw (<0.01%), …
The ups and downs of STAT3 function: too much, too little and human immune dysregulation
The STAT3 story has almost 30 years of evolving history. First identified in 1994 as a pro-inflammatory
transcription factor, Signal Transducer and Activator of Transcription 3 (STAT3) …
transcription factor, Signal Transducer and Activator of Transcription 3 (STAT3) …
Inherited GATA2 deficiency is dominant by haploinsufficiency and displays incomplete clinical penetrance
…, J Rosain, F Rapaport, C Deswarte, A Guérin… - Journal of clinical …, 2021 - Springer
Purpose Germline heterozygous mutations of GATA2 underlie a variety of hematological
and clinical phenotypes. The genetic, immunological, and clinical features of GATA2-deficient …
and clinical phenotypes. The genetic, immunological, and clinical features of GATA2-deficient …
[PDF][PDF] Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria
…, HM Izquierdo, T Shirasaki, T Le Voyer, A Guérin… - Cell, 2023 - cell.com
Inborn errors of human IFN-γ-dependent macrophagic immunity underlie mycobacterial
diseases, whereas inborn errors of IFN-α/β-dependent intrinsic immunity underlie viral diseases. …
diseases, whereas inborn errors of IFN-α/β-dependent intrinsic immunity underlie viral diseases. …