Results 21 to 30 of about 227 (76)
Cases of Trichohepatoenteric Syndrome (Syndromic Diarrhea) with Underlying Crohn’s Disease
Вопросы современной педиатрии, 2015 Tricho-hepato-enteric syndrome (syndromic, phenotypic diarrhea, SD/THES) is a rare inborn disease, which affects bowels. It is caused by the mutation of genes SKIV2L or TTC37. Manifestations include intrauterine hypotrophy, severe chronic diarrhea, which
Е. А. Roslavtseva +7 more
doaj +1 more source
An RNA Metabolism and Surveillance Quartet in the Major Histocompatibility Complex
Cells, 2019 At the central region of the mammalian major histocompatibility complex (MHC) is a complement gene cluster that codes for constituents of complement C3 convertases (C2, factor B and C4).
Danlei Zhou +3 more
doaj +1 more source
The spectrum of primary immunodeficiencies at a tertiary care hospital in Pakistan
World Allergy Organization Journal, 2020 Background: Primary Immunodeficiency Disorders (PIDs) are well-known disorders in the West. but the recognition and diagnosis of these disorders is challenging in developing countries.
Sonia Qureshi +7 more
doaj +1 more source
Cytoplasmic RNA quality control failure engages mTORC1-mediated autoinflammatory disease
The Journal of Clinical Investigation, 2022 Inborn errors of nucleic acid metabolism often cause aberrant activation of nucleic acid sensing pathways, leading to autoimmune or autoinflammatory diseases.
Kun Yang +11 more
doaj +1 more source
Diagnosis of Woolly Hair Using Trichoscopy
Case Reports in Dermatological Medicine, Volume 2019, Issue 1, 2019., 2019 Hair shaft abnormalities including woolly hair are traditionally diagnosed by clinical examination and light microscopy which involves plucking of multiple hairs for examination. This is usually an inconvenient procedure especially in children. Trichoscopy may be a useful tool allowing close visualization of multiple hairs without causing discomfort to
Mahesh Mathur +5 more
wiley +1 more source
The role of enterocyte defects in the pathogenesis of congenital diarrheal disorders
Disease Models & Mechanisms, 2016 Congenital diarrheal disorders are rare, often fatal, diseases that are difficult to diagnose (often requiring biopsies) and that manifest in the first few weeks of life as chronic diarrhea and the malabsorption of nutrients.
Arend W. Overeem +4 more
doaj +1 more source
United European Gastroenterology Journal, Volume 13, Issue 5, Page 773-797, June 2025.ABSTRACT Malabsorption is a complex and multifaceted condition characterised by the defective passage of nutrients into the blood and lymphatic streams. Several congenital or acquired disorders may cause either selective or global malabsorption in both children and adults, such as cystic fibrosis, exocrine pancreatic insufficiency (EPI), coeliac ...
Marco Vincenzo Lenti +29 more
wiley +1 more source
Novel SKIC3 variants in tricho-hepato-enteric syndrome with hemochromatosis
Human Genome VariationTricho-hepato-enteric syndrome (THES), a rare autosomal recessive disorder caused by variants in the SKIC3 or SKIC2 gene, is characterized by intractable diarrhea, woolly hair, growth restriction and liver disease.
Kayo Ochiai +10 more
doaj +1 more source
Established and Emerging Roles of DEAD/H‐Box Helicases in Regulating Infection and Immunity
Immunological Reviews, Volume 329, Issue 1, January 2025.ABSTRACT The sensing of nucleic acids by DEAD/H‐box helicases, specifically retinoic acid‐inducible gene I (RIG‐I) and melanoma differentiation‐associated protein 5 (MDA5), plays a critical role in inducing antiviral immunity following infection. However, this DEAD/H‐box helicase family includes many additional proteins whose immune functions have not ...
Michael Parthun +2 more
wiley +1 more source
Frontiers in ImmunologyIntroductionTricho-hepato-enteric syndrome (THES) is a rare genetic disorder characterized by early-onset intractable diarrhea, intrauterine growth retardation, hair abnormalities, and liver disease during early infancy.
Yuta Narishige +8 more
doaj +1 more source