Results 11 to 20 of about 2,267,031 (171)

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   +5 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

Hyper-IgD syndrome: a new mutation (p.R277G) with a severe phenotype [PDF]

Pediatric Rheumatology Online Journal, 2011
Conde M, Neves C, Brito MJ, Arostégui JI, Santos J   +4 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

Das Hyper-IgD-Syndrom [PDF]

DMW - Deutsche Medizinische Wochenschrift, 2008
Contains fulltext : 23622___.PDF (Publisher’s version ) (Open Access)
Drenth, J.P.H., Endres, S., Belohradsky, B.H., Meer, J.W.M. van der   +3 more
openaire   +2 more sources

Mevalonate kinase deficiency syndrome: Single center experience

Научно-практическая ревматология, 2021
The aim of this study was to analyze the clinical, laboratory and molecular genetic data of 26 patients (15 boys, 11 girls) diagnosed with mevalonate kinase deficiency syndrome (MKD).Subjects and methods.
A. L. Kozlova, V. O. Bludova, V. I. Burlakov, E. V. Raykina, T. V. Varlamova, М. А. Kurnikova, А. N. Remizov, G. V. Tereshchenko, А. А. Moiseeva, S. А. Dibirova, А. L. Khoreva, А. А. Roppelt, Yu. А. Rodina, N. B. Kuzmenko, А. А. Mukhina, Е. I. Каlashnikova, L. N. Igisheva, N. V. Martynova, О. V. Zhogova, S. B. Zimin, О. V. Barabanova, Yu. V. Kotova, G. А. Novichkova, А. Yu. Shcherbina   +23 more
doaj   +1 more source

A novel case of autosomal recessive CARD11 loss-of-function underlying impaired antiviral immunity and a review of literature. [PDF]

Clin Transl Immunology
We 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, Verryt C, Keating P, Saunders T, Dalton S, Hock BD, Goddard L, Drake K, Werno A, O'Donnell J, Stinson JR, Snow AL, Hsiao KC.   +12 more
europepmc   +2 more sources

Compromised Protein Prenylation as Pathogenic Mechanism in Mevalonate Kinase Deficiency

Frontiers in Immunology, 2021
Mevalonate kinase deficiency (MKD) is an autoinflammatory metabolic disorder characterized by life-long recurring episodes of fever and inflammation, often without clear cause. MKD is caused by bi-allelic pathogenic variants in the MVK gene, resulting in
Frouwkje A. Politiek, Hans R. Waterham
doaj   +1 more source

Inflammasomes and dermatology [PDF]

Anais Brasileiros de Dermatologia, 2016
: Inflammasomes are intracellular multiprotein complexes that comprise part of the innate immune response. Since their definition, inflammasome disorders have been linked to an increasing number of diseases.
Daniel Coelho de Sá, Cyro Festa Neto
doaj   +1 more source