… Caspase-1-dependent cleavage of GSDMD liberates the pro-pyroptotic N-terminal domain
from an inhibitory interaction with the C-terminal domain of the protein. Once generated, the N…

… Through their CARD domains ASC dimers interact with the C-terminal CARD domain of
NLRP1 and the CARD domain of pro-caspase-1, forming the inflammasome (Fig. 2). These …

… Their C-terminal domain is rich in leucine repeats (LRR), which under resting conditions,
auto-inhibits the NLR [12,13]. The central nucleotide-binding domain (NACHT), mediates …

OBJECTIVES: Lacrimal sac tumors are usually primary and of epithelial origin. Overall, 55%
of lacrimal sac tumors are malignant. Mortality rates for malignant tumors depend on tumor …

Les maladies auto-inflammatoires monogéniques sont caractérisées par des anomalies
génétiques codant des protéines intervenant dans l’immunité innée. Ces maladies ont été …

… In proband III, the NGS analysis revealed a novel heterozygous NLRP3 variation, the c.2305G>A,
p.(Gly769Ser), which is not described in gnomAD and, according to the MaxEntScan …

… A familial history was reported for only 6/40 index cases and we identified 2 c.*82C>T
pathogenic variants and 1 variant of unknown significance c.95T>G, p.(Val32Gly) in 3 familial …

… [19] C. Small, “High spatial resolution spectral mixture analysis of urban reflectance,” Remote
… Christophe Louvrier, photograph and biography not available at the time of publication. …

3. Centre de référence des maladies auto-inflammatoires et de l'amylose inflammatoire
(CEREMAIA), 75020 Paris, France; Service de pédiatrie générale, centre hospitalier de …

We report here on an 8‐year‐old girl and her mother, both displaying similar facial dysmorphism,
speech delay, and mild to moderate intellectual disability. Array‐CGH studies revealed …