Patients with a diverse spectrum of rare genetic disorders can present with inflammatory
bowel disease (monogenic IBD). Patients with these disorders often develop symptoms …

Mutations in DOCK8 result in autosomal recessive Hyper-IgE syndrome with combined
immunodeficiency (CID). However, the natural course of disease, long-term prognosis, and …

The American Academy of Allergy, Asthma & Immunology (AAAAI) and the American
College of Allergy, Asthma & Immunology (ACAAI) have jointly accepted responsibility for …

Inflammatory bowel disease (IBD), encompassing Crohn's disease and ulcerative colitis, has
multifactorial aetiology with complex interactions between genetic and environmental …

Background & aims Monogenic forms of inflammatory bowel disease (IBD) illustrate the
essential roles of individual genes in pathways and networks safeguarding immune …

Recent advances in the development of sequencing technologies provide researchers with
unprecedented possibilities for genetic analyses. In this review, we will discuss the history of …

Abstract Dedicator of cytokinesis 8 (DOCK8) deficiency is a combined immunodeficiency
that exemplifies the broad clinical features of primary immunodeficiencies (PIDs), extending …

Background Mutations in dedicator of cytokinesis 8 (DOCK8) cause a combined
immunodeficiency (CID) also classified as autosomal recessive (AR) hyper-IgE syndrome …

Ras homology (RHO) GTPases are signalling proteins that have crucial roles in triggering
multiple immune functions. Through their interactions with a broad range of effectors and …

The rate of pediatric inflammatory bowel disease (IBD) has been increasing over the last
decade and this increase has occurred most rapidly in the youngest children diagnosed< 6 …