Results 11 to 20 of about 2,294 (167)
Hyper-IgD syndrome/mevalonate kinase deficiency: what is new? [PDF]
Seminars in Immunopathology, 2015 Contains fulltext : 153021.pdf (Publisher’s version ) (Open Access)Mevalonate kinase deficiency or hyper-IgD syndrome is a hereditary autoinflammatory syndrome caused by mutations in the mevalonate kinase gene.
Anna Simon
exaly +4 more sources
Persistent Hyper IgA as a Marker of Immune Deficiency: A Case Report
Antibodies, 2022 An elevated IgA level obtained in a 10-year-old male a year after an episode of pneumococcal sepsis led to the discovery of a broad-based IgG-specific antibody deficiency syndrome.
Russell J. Hopp, Hana B. Niebur
doaj +2 more sources
The challenge of autoinflammatory syndromes: with an emphasis on hyper-IgD syndrome [PDF]
Rheumatology, 2016 Autoinflammatory syndromes are disorders with an exaggerated inflammatory response, mostly in the absence of an appropriate trigger. Prototypic autoinflammatory syndromes are FMF, hyper-IgD syndrome (also known as mevalonate kinase deficiency), TNF receptor-associated periodic syndrome and cryopyrin-associated periodic syndrome. The clinical phenotypes
Meer, J.W.M. van der, Simon, A.
openaire +4 more sources
Oral manifestations of primary immunodeficiencies
Бюллетень сибирской медицины, 2019 To understand the current state of the issue of dental manifestations of primary immunodeficiencies, foreign literature on the problem has been analyzed.
M. A. Dolgikh +4 more
doaj +3 more sources
Neonatal Hepatitis as First Manifestation of Hyperimmunoglobulinemia D Syndrome [PDF]
Case Reports in Pediatrics, 2014 Hyper IgD syndrome (HIDS) is a rare metabolic autoinflammatory syndrome characterised by recurrent febrile episodes, accompanied by various inflammatory symptoms.
Marie-Louise von Linstow +1 more
doaj +2 more sources
Hereditary autoinflammatory syndromes -with emphasis on Hyper IgD and periodic fever syndrome- [PDF]
, 2004 KUN Katholieke Universiteit Nijmegen, 04 november ...
Simon, A.
openaire +2 more sources
A novel case of autosomal recessive CARD11 loss-of-function underlying impaired antiviral immunity and a review of literature. [PDF]
Clin Transl ImmunologyWe report on a patient homozygous for a novel autosomal recessive loss‐of‐function CARD11 variant, with susceptibility to live attenuated virus (LAV) vaccines and impaired clearance of multiple naturally acquired respiratory viral infections. Inborn errors of immunity affecting the CARD11‐BCL10‐MALT1 (CBM) complex should be considered in individuals ...
Anderson H +12 more
europepmc +2 more sources
DMW - Deutsche Medizinische Wochenschrift, 2008 Contains fulltext : 23622___.PDF (Publisher’s version ) (Open Access)
Drenth, J.P.H. +3 more
openaire +2 more sources
Aberrant expression of costimulatory molecules in splenocytes of the mevalonate kinase-deficient mouse model of human hyper-IgD syndrome (HIDS). [PDF]
J Inherit Metab Dis, 2012 Objective We sought to determine the activation status and proliferative capacities of splenic lymphocyte populations from a mevalonate kinase-deficient mouse model of hyper-IgD syndrome (HIDS).
Hager EJ +3 more
europepmc +2 more sources