H syndrome: the first 79 patients
V Molho-Pessach, Y Ramot, F Camille… - Journal of the American …, 2014 - Elsevier
Background H syndrome is an autosomal recessive genodermatosis with multisystem
involvement caused by mutations in SLC29A3. Objective We sought to investigate the …
involvement caused by mutations in SLC29A3. Objective We sought to investigate the …
Off-label use of tocilizumab to treat non-juvenile idiopathic arthritis in pediatric rheumatic patients: a literature review
JY Jung, MY Kim, CH Suh, HA Kim - Pediatric Rheumatology, 2018 - Springer
Abstract Tocilizumab, an anti-interleukin-6 (IL-6) agent, is indicated as a treatment for
several autoimmune or inflammatory diseases, including rheumatoid arthritis and juvenile …
several autoimmune or inflammatory diseases, including rheumatoid arthritis and juvenile …
H syndrome: 5 new cases from the United States with novel features and responses to therapy
JL Bloom, C Lin, L Imundo, S Guthery… - Pediatric …, 2017 - Springer
Background H Syndrome is an autosomal recessive disorder characterized by cutaneous
hyperpigmentation, hypertrichosis, and induration with numerous systemic manifestations …
hyperpigmentation, hypertrichosis, and induration with numerous systemic manifestations …
Monogenic mimics of Behçet's disease in the young
C Papadopoulou, E Omoyinmi, A Standing… - …, 2019 - academic.oup.com
Objectives Monogenic autoinflammatory disorders (AID) and primary immunodeficiencies
can present early in life with features that may be mistaken for Behçet's disease (BD). We …
can present early in life with features that may be mistaken for Behçet's disease (BD). We …
Tocilizumab for the treatment of SLC29A3 mutation positive PHID syndrome
Dorfman disease, and histiocytosis-lymphadenopathy-plus syndrome. Autoinflammation is
increasingly recognized in these syndromes. We previously reported a 16-year-old girl with …
increasingly recognized in these syndromes. We previously reported a 16-year-old girl with …
Genome‐wide methylation profile following prenatal and postnatal dietary omega‐3 fatty acid supplementation in pigs
RL Boddicker, JE Koltes, ER Fritz‐Waters… - Animal …, 2016 - Wiley Online Library
The objective of this study was to determine how prenatal and postnatal dietary omega‐3
fatty acids alter white blood cell (leukocyte) DNA methylation of offspring. Fifteen gilts (n= 5 …
fatty acids alter white blood cell (leukocyte) DNA methylation of offspring. Fifteen gilts (n= 5 …
Solute Carrier Nucleoside Transporters in Hematopoiesis and Hematological Drug Toxicities: A Perspective
Simple Summary Anticancer nucleoside analogs are promising treatments that often result
in damaging toxicities and therefore ineffective treatment. Mechanisms of this are not well …
in damaging toxicities and therefore ineffective treatment. Mechanisms of this are not well …
Overview of atypical diabetes
J Tamaroff, M Kilberg, SE Pinney… - Endocrinology and …, 2020 - endo.theclinics.com
Although a majority of children and adults with diabetes mellitus (DM) are diagnosed with
type 1 diabetes mellitus (T1D) or type 2 diabetes mellitus (T2D), a significant number of …
type 1 diabetes mellitus (T1D) or type 2 diabetes mellitus (T2D), a significant number of …
Untangling the web of systemic autoinflammatory diseases
The innate immune system is involved in the pathophysiology of systemic autoinflammatory
diseases (SAIDs), an enlarging group of disorders caused by dysregulated production of …
diseases (SAIDs), an enlarging group of disorders caused by dysregulated production of …