The pyrin inflammasome in health and disease

O Schnappauf, JJ Chae, DL Kastner… - Frontiers in …, 2019 - frontiersin.org
The pyrin inflammasome has evolved as an innate immune sensor to detect bacterial toxin-
induced Rho guanosine triphosphatase (Rho GTPase)-inactivation, a process that is similar …

Monogenic autoinflammatory disorders: conceptual overview, phenotype, and clinical approach

PA Nigrovic, PY Lee, HM Hoffman - Journal of Allergy and Clinical …, 2020 - Elsevier
Autoinflammatory diseases are conditions in which pathogenic inflammation arises primarily
through antigen-independent hyperactivation of immune pathways. First recognized just …

Hematopoietic stem cell transplantation in primary immunodeficiency diseases: current status and future perspectives

R Castagnoli, OM Delmonte, E Calzoni… - Frontiers in …, 2019 - frontiersin.org
Primary immunodeficiencies (PID) are disorders that for the most part result from mutations
in genes involved in immune host defense and immunoregulation. These conditions are …

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

JED Thaventhiran, H Lango Allen, OS Burren, W Rae… - Nature, 2020 - nature.com
Primary immunodeficiency (PID) is characterized by recurrent and often life-threatening
infections, autoimmunity and cancer, and it poses major diagnostic and therapeutic …

Very early onset inflammatory bowel disease: a clinical approach with a focus on the role of genetics and underlying immune deficiencies

J Ouahed, E Spencer, D Kotlarz… - Inflammatory bowel …, 2020 - academic.oup.com
Very early onset inflammatory bowel disease (VEO-IBD) is defined as IBD presenting before
6 years of age. When compared with IBD diagnosed in older children, VEO-IBD has some …

Advances in evaluation of chronic diarrhea in infants

JR Thiagarajah, DS Kamin, S Acra, JD Goldsmith… - Gastroenterology, 2018 - Elsevier
Diarrhea is common in infants (children less than 2 years of age), usually acute, and, if
chronic, commonly caused by allergies and occasionally by infectious agents. Congenital …

Actin-based cell protrusion in a 3D matrix

PT Caswell, T Zech - Trends in cell biology, 2018 - cell.com
Cell migration controls developmental processes (gastrulation and tissue patterning), tissue
homeostasis (wound repair and inflammatory responses), and the pathobiology of diseases …

An integrated taxonomy for monogenic inflammatory bowel disease

C Bolton, CS Smillie, S Pandey, R Elmentaite, G Wei… - Gastroenterology, 2022 - Elsevier
Background & aims Monogenic forms of inflammatory bowel disease (IBD) illustrate the
essential roles of individual genes in pathways and networks safeguarding immune …

The wiskott-aldrich syndrome

HD Ochs, AJ Thrasher - Journal of Allergy and Clinical Immunology, 2006 - Elsevier
The Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder with variable clinical
phenotypes that correlate with the type of mutations in the WAS protein (WASP) gene …

Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases

I Aksentijevich, O Schnappauf - Nature Reviews Rheumatology, 2021 - nature.com
Monogenic autoinflammatory diseases are a group of rheumatologic disorders caused by
dysregulation in the innate immune system. The molecular mechanisms of these disorders …