A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity

…, V Rattina, F Ailal, I Benhsaien, M Bouaziz… - Science …, 2018 - science.org
Heterozygosity for human signal transducer and activator of transcription 3 (STAT3)
dominant-negative (DN) mutations underlies an autosomal dominant form of hyper–immunoglobulin …

Tuberculosis and impaired IL-23–dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant

…, R Fisch, C Deswarte, J Halpern, M Bouaziz… - Science …, 2018 - science.org
Inherited IL-12Rβ1 and TYK2 deficiencies impair both IL-12– and IL-23–dependent IFN-γ
immunity and are rare monogenic causes of tuberculosis, each found in less than 1/600,000 …

[HTML][HTML] Inherited p40phox deficiency differs from classic chronic granulomatous disease

…, ATJ Tool, AA Arias, M Bouaziz… - The Journal of …, 2018 - Am Soc Clin Investig
Biallelic loss-of-function (LOF) mutations of the NCF4 gene, encoding the p40 phox subunit
of the phagocyte NADPH oxidase, have been described in only 1 patient. We report on 24 …

The human CIB1–EVER1–EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses

…, A Ensser, TM Leisner, LV Parise, M Bouaziz… - Journal of Experimental …, 2018 - rupress.org
Patients with epidermodysplasia verruciformis (EV) and biallelic null mutations of TMC6 (encoding
EVER1) or TMC8 (EVER2) are selectively prone to disseminated skin lesions due to …

[HTML][HTML] Accounting for population stratification in practice: a comparison of the main strategies dedicated to genome-wide association studies

M Bouaziz, C Ambroise, M Guedj - PloS one, 2011 - journals.plos.org
Genome-Wide Association Studies are powerful tools to detect genetic variants associated
with diseases. Their results have, however, been questioned, in part because of the bias …

Genetic, immunological, and clinical features of 32 patients with autosomal recessive STAT1 deficiency

…, S Nishimura, F Sakura, M Bouaziz… - The Journal of …, 2021 - journals.aai.org
Autosomal recessive (AR) STAT1 deficiency is a severe inborn error of immunity disrupting
cellular responses to type I, II, and III IFNs, and IL-27, and conferring a predisposition to both …

IRF4 haploinsufficiency in a family with Whipple's disease

…, DT Avery, CS Ma, S Bougarn, M Bouaziz… - Elife, 2018 - elifesciences.org
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%), …

Evidence of the contribution of the X chromosome to systemic sclerosis susceptibility: Association with the functional IRAK1 196Phe/532Ser haplotype

P Dieude, M Bouaziz, M Guedj… - Arthritis & …, 2011 - Wiley Online Library
Objective Several autoimmune disorders, including systemic sclerosis (SSc), are characterized
by a strong sex bias. To date, it is not known whether genes on the sex chromosomes …

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons

…, B Bosch, A Antipenko, M Bouaziz… - Proceedings of the …, 2018 - National Acad Sciences
Isolated congenital asplenia (ICA) is the only known human developmental defect exclusively
affecting a lymphoid organ. In 2013, we showed that private deleterious mutations in the …

A genome-wide case-only test for the detection of digenic inheritance in human exomes

G Kerner, M Bouaziz, A Cobat, B Bigio… - Proceedings of the …, 2020 - National Acad Sciences
Whole-exome sequencing (WES) has facilitated the discovery of genetic lesions underlying
monogenic disorders. Incomplete penetrance and variable expressivity suggest a …