INBORN ERRORS OF IMMUNITY IN SOUTH AFRICA: GENETICS AND THE EXPANDING UNIVERSE.

Autor: Glanzmann, Brigitte, Scholtz, Denise, van Coller, Ansia, Abraham, Deepthi R., du Toit, Maxine, Nortje, Rina, Esser, Monika, Glashoff, Richard, Möller, Marlo, Kinnear, Craig

Publikováno v: Current Allergy & Clinical Immunology; Mar2024, Vol. 37 Issue 1, p5-10, 6p

VARIABLE EXPRESSION IN SAMHD1 - ASSOCIATED FAMILIAL AICARDI-GOUTIERES SYNDROME

Autor: Glanzmann, Brigitte, Abraham, Deepthi R., Moller, Marlo, Glashoff, Richard, van Coller, Ansia, Uren, Caitlin, Durrheim, Glenda, Urban, Michael, Hoal, Eileen G., Esser, Monika M., Rice, Gillian, I, Crow, Yanick J., Kinnear, Craig J.

Publikováno v: Glanzmann, B, Abraham, D R, Moller, M, Glashoff, R, van Coller, A, Uren, C, Durrheim, G, Urban, M, Hoal, E G, Esser, M M, Rice, G I, Crow, Y J & Kinnear, C J 2018, ' VARIABLE EXPRESSION IN SAMHD1-ASSOCIATED FAMILIAL AICARDI-GOUTIERES SYNDROME ', Current Allergy & Clinical Immunology, vol. 31, no. 4, pp. 265-270 . < https://journals.co.za/docserver/fulltext/caci_v31_n4_a15.pdf?expires=1561562604&id=id&accname=guest&checksum=F989D0201A11CD9651E8A5C38856D8EE >

Aicardi-Goutières syndrome (AGS) is an encephalopathy of early childhood. This disorder is genetically heterogeneous, with mutations in seven genes having been identified to be disease-causing. Most patients with AGS present with poordevelopmental o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3818::2b38d892d19f6885b6bab0861e6322a0
https://www.research.manchester.ac.uk/portal/en/publications/variable-expression-in-samhd1--associated-familial-aicardigoutieres-syndrome(db1b4f02-8138-4b33-b6b7-948de64398a3).html

A Multidisciplinary Approach to Hypermobility Spectrum Disorder, Raynaud's Phenomenon, and Biomechanical Soft Tissue Injuries in an Adolescent Boy: A Case Report.

Autor: Zwiegelaar SA; Division of Movement Science and Exercise Therapy, Department of Sport Science, Faculty of Medicine and Health Sciences Stellenbosch University Stellenbosch South Africa.; The Movement Laboratory, Sport Science Department, Faculty of Medicine and Health Sciences Stellenbosch University Stellenbosch South Africa., Abraham DR; Department of Pediatrics and Child Health, Faculty of Medicine and Health Sciences Stellenbosch University Tygerberg, Cape Town South Africa., Roman O; Olivia Roman Physiotherapists Kuilsriver Western Cape South Africa., Welman KE; Division of Movement Science and Exercise Therapy, Department of Sport Science, Faculty of Medicine and Health Sciences Stellenbosch University Stellenbosch South Africa.; The Movement Laboratory, Sport Science Department, Faculty of Medicine and Health Sciences Stellenbosch University Stellenbosch South Africa.

Publikováno v: Clinical case reports [Clin Case Rep] 2024 Dec 10; Vol. 12 (12), pp. e9678. Date of Electronic Publication: 2024 Dec 10 (Print Publication: 2024).