Abstract Hemolytic-uremic syndrome (HUS), mostly secondary to infectious diseases, is a
common cause of acute kidney injury in children. It is characterized by progressive acute …

Patients with loss-of-function mutations in IL10 or IL10 receptor (IL10R) genes develop
severe, medical-refractory, infantile-onset inflammatory bowel disease (IBD). We have …

Purpose Primary immunodeficiency diseases are considered to be rare diseases; however,
data on the exact birth incidences of these diseases are sparse. Southern Israel is inhabited …

Aim To describe ocular manifestations in children with congenital insensitivity to pain with
and without anhidrosis (CIPA and CIP). Methods We reviewed records of eye examinations …

Histiocytoses are inflammatory myeloid neoplasms often driven by somatic activating
mutations in mitogen-activated protein kinase (MAPK) cascade genes. H syndrome is an …

Ciliopathies are a heterogeneous group of disorders, related to abnormal ciliary function.
Severe biliary ciliopathy, caused by bi‐allelic mutations in TTC26, has been recently …

Objectives: Advances in genetic technologies provide opportunities for patient care and
ethical challenges. Clinical care of patients with rare Mendelian disorders is often at the …

Background Severe acute respiratory syndrome coronavirus 2 (SARS CoV-2) is the
causative agent of the current COVID-19 pandemic. Lysosomal storage disorders (LSD) …

Background Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome is a disease
composed of hypoparathyroidism, growth retardation, severe developmental delay, and …

Primary immunodeficiences are often accompanied by autoimmune phenomena. IL-12
receptor deficiency is a well characterized primary immunodeficiency that leads to …