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 …

Objective Somatic mutations in UBA1 cause a newly defined syndrome known as VEXAS (vacuoles,
E1 enzyme, X‐linked, autoinflammatory, somatic syndrome). More than 50% of …

TANK binding kinase 1 (TBK1) regulates IFN-I, NF-κB, and TNF-induced RIPK1-dependent
cell death (RCD). In mice, biallelic loss of TBK1 is embryonically lethal. We discovered four …

Monogenic autoinflammatory diseases are a group of rheumatologic disorders caused by
dysregulation in the innate immune system. The molecular mechanisms of these disorders are …

The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessively inherited
disease that has undergone extensive phenotypic expansion since being first described in …

… Lee MD, PhD c , Xiaomin Yu PhD d , Natalia Sampaio Moura BS a , Oskar Schnappauf
PhD a , Amanda K. Ombrello MD a , Deborah Stone MD a , Hye Sun Kuehn PhD e , Sergio D. …

Purpose Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disorder
that manifests with fever, early-onset vasculitis, strokes, and hematologic dysfunction. This …

Objective Deficiency of adenosine deaminase 2 (DADA2) is a monogenic form of vasculitis
that can resemble polyarteritis nodosa (PAN). This study was undertaken to identify potential …

Systemic autoinflammatory diseases (SAIDs) are a group of inflammatory disorders caused
by dysregulation in the innate immune system that leads to enhanced immune responses. …

RELA haploinsufficiency is a recently described autoinflammatory condition presenting with
intermittent fevers and mucocutaneous ulcerations. The RELA gene encodes the p65 protein…