The electrostatic potential plays a key role in many biological processes like determining the
affinity of a ligand to a given protein target, and they are responsible for the catalytic activity …

Hereditary autoinflammatory syndromes are a rare, but notable cause of fever of unknown
origin. During the last few years, the knowledge of the genetic background has significantly …

Abstract A 15-month-old boy, born to Iranian consanguineous parents presented with
intermittent neutropenia interspersed with episodes of fever and leukocytosis since early …

OBJECTIVE: To examine essential fatty acids (EFAs) in hyper-IgD syndrome (HIDS) and
Familial Mediterranean Fever (FMF). METHODS: EFAs were determined in sera derived …

Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory
disease caused by mutations in MVK. We report two siblings with MKD, presenting with …

Abstract γ‐Secretase is a four‐component membrane‐embedded aspartyl protease involved
in the final cleavage step of the amyloid precursor protein (APP) to generate the amyloid‐β …

Autoinflammatory disorders are a group of diseases characterized by recurrent or
continuous, generalized inflammation where no infectious etiology is found. Dysregulation of …

We report 7 years of follow-up data on ocular findings in a 2-month-old boy who presented
with early-onset bilateral granulomatous panuveitis with subsequent development of …

Autoinflammatory diseases are defined as recurrent attacks of systemic inflammation that
are often unprovoked (or triggered by a minor event) related to a lack of adequate regulation …

Hyperimmunoglobulin D syndrome (HIDS; MIM# 260920) is a rare, autosomal recessive
genetic disorder characterized by recurrent febrile episodes typically associated with …