Results 1 to 10 of about 227 (76)

Trichohepatoenteric Syndrome or Syndromic Diarrhea—Report of Three Members in a Family, First Report from Iran [PDF]

Case Reports in Pathology, 2016
Introduction. Intractable diarrhea of infancy (IDI) includes several types of early onset diarrhea; one of the rare etiologies is trichohepatoenteric (THE) syndrome, also known as syndromic diarrhea (SD) which was primarily described by Stankler et al ...
F. E. Mahjoub, F. Imanzadeh, S. Mahdavi Izadi, A. Nahali Moghaddam   +3 more
doaj   +4 more sources

Case Report: A Novel Homozygous Frameshift Mutation of the SKIV2L Gene in a Trichohepatoenteric Syndrome Patient Presenting With Short Stature, Premature Ovarian Failure, and Osteoporosis [PDF]

Frontiers in Genetics, 2022
Background: Trichohepatoenteric syndrome (THES) is a rare Mendelian autosomal recessive genetic disease characterized by intractable diarrhea, woolly hair, facial abnormality, immune dysfunction, and intrauterine growth restriction.
Minyi Yang, Yu Jiang, Xinyu Shao, Xinyu Shao   +3 more
doaj   +4 more sources

Case Report: Novel Compound-Heterozygous Variants of SKIV2L Gene that Cause Trichohepatoenteric Syndrome 2 [PDF]

Frontiers in Genetics, 2021
Background: Trichohepatoenteric syndrome (THES) is a rare disease that mainly causes intractable diarrhea. It is classified into THES1 and THES2, which are associated with the tetratricopeptide repeat domain 37 (TTC37) gene and Ski2-like RNA helicase ...
Qiao Zhang, Xia Qian, Jianli Zhou, Lin Han, Shaoming Zhou, Zhaoxia Wang   +5 more
doaj   +4 more sources

Infection-Triggered Disease Flare With Extraintestinal Manifestations in Trichohepatoenteric Syndrome: A Case Report [PDF]

Case Reports in Medicine
Trichohepatoenteric syndrome (THES) is a rare, autosomal recessive disorder characterized by early-onset diarrhea, woolly hair, and facial dysmorphism and variable multisystem involvement. Herein, we report a 17-year-old male with a genetically confirmed
Hatem M. Taha, Mohammed AbuBaha, Hossam Salameh, Wael Hashem, Amin A. A. Abualhommos, Omar Marouf, Hasan Khalili   +6 more
doaj   +3 more sources

Trichohepatoenteric syndrome: A rare mutation in SKIV2L gene in the first Balkan reported case [PDF]

SAGE Open Medical Case Reports, 2018
Trichohepatoenteric syndrome or syndromic diarrhea is a rare and severe Mendelian autosomal recessive syndrome characterized by intractable diarrhea, facial and hair abnormalities, liver dysfunction, immunodeficiency and failure to thrive.
Ioannis Xinias, Antigoni Mavroudi, Dimitrios Mouselimis, Anastasios Tsarouchas, Konstantina Vasilaki, Ioannis Roilides, Florence Lacaille, Olga Giouleme   +7 more
doaj   +3 more sources

Trichohepatoenteric syndrome and cytomegalovirus infection: Case report and literature summary [PDF]

SAGE Open Medical Case Reports
Trichohepatoenteric syndrome is a rare autosomal recessive genetic disease caused by TTC37 (also known as SKIC3 ) or SKIV2L gene variant. We present a severely affected 2-month-old male infant with recurrent fever and unexplained diarrhea.
Yumo Zhu, Yanyan Cao, Li Ma, Lili Fan, Weicong Pu, Yaofang Xia   +5 more
doaj   +3 more sources

Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome [PDF]

Frontiers in Immunology, 2018
The syndromic diarrhea/trichohepatoenteric syndrome (SD/THE) is a rare and multi-system genetic disorder caused by mutation in SKIV2L or in TTC37, two genes encoding subunits of the putative human SKI complex involved in RNA degradation.
Frédéric Vély, Frédéric Vély, Vincent Barlogis, Evelyne Marinier, Marie-Edith Coste, Béatrice Dubern, Emmanuelle Dugelay, Julie Lemale, Christine Martinez-Vinson, Noël Peretti, Ariane Perry, Patrice Bourgeois, Patrice Bourgeois, Catherine Badens, Catherine Badens, Olivier Goulet, Jean-Pierre Hugot, Jean-Pierre Hugot, Jean-Pierre Hugot, Catherine Farnarier, Alexandre Fabre, Alexandre Fabre   +21 more
doaj   +4 more sources

Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome. [PDF]

Frontiers in Pediatrics, 2015
Unbiased genetic diagnosis has increasingly associated seemingly unrelated somatic and immunological phenotypes. We report a male infant who presented within the first year of life with physical growth impairment, feeding difficulties, hyperemesis ...
Nicholas L Rider, Nicholas L Rider, Bertrand eBoisson, Soma eJyonouchi, Eric eHanson, Sergio eRosenzweig, Jean-Laurent eCasanova, Jean-Laurent eCasanova, Jordan eOrange, Jordan eOrange   +9 more
doaj   +4 more sources

Management of Enteritis Associated With Tricohepatoenteric Syndrome due to SKIV2L Mutation Using the Combination of JAK1/2 Inhibition and Azathioprine. [PDF]

JPGN Rep, 2022
Tricohepatoenteric syndrome is a rare genetic disorder caused by mutations in SKIV2L or TTC37. An upregulation of type 1 interferon signaling is associated with the SKIV2L variation. Introduction of Baricitinib as a JAK1/ 2 kinase inhibitor alongside traditional immunosuppressive agents successfully reduced the symptoms of enteritis by blocking the ...
Talbot J, Wiskin AE, Monaghan M, Goenka A, Rice G, Roderick M.   +5 more
europepmc   +2 more sources

Trichohepatoenteric syndrome type 1: expanding the clinical spectrum of THES type 1 due to a homozygous variant in the SKIC3 gene [PDF]

BMC Pediatrics
Trichohepatoenteric syndrome (THES), also known as phenotypic diarrhea or syndromic diarrhea, is a rare autosomal recessive genetic disorder caused by mutations in SKIC2 (THES-type 2) or SKIC3 (THES-type 1) and is characterized by early onset diarrhea ...
Abdullah Alrammal, Rashed Aljundi, Sedra Abu Ghedda, Buthaina Mustafa AlMurbati   +3 more
doaj   +2 more sources