Results 31 to 40 of about 5,132 (186)

Lack of Prenylated Proteins, Autophagy Impairment and Apoptosis in SH-SY5Y Neuronal Cell Model of Mevalonate Kinase Deficiency [PDF]

, 1871
Mevalonate Kinase Deficiency (MKD), is a hereditary disease due to mutations in mevalonate kinase gene (MVK). MKD has heterogeneous clinical phenotypes: the correlation between MVK mutations and MKD clinical phenotype is still to be fully elucidated ...
Tricarico, Paola Maura, Romeo, Alessandra, Gratton, Rossella, Crovella, Sergio, Celsi, Fulvio   +4 more
core   +2 more sources

Febre periódica: síndroma hiper-IgD--primeiro caso em Portugal.

Acta Médica Portuguesa, 2004
Periodic fever can have one of multiple causes. Among the hereditary periodic fever syndromes, hyper-IgD syndrome (HIDS) is a possible diagnosis, although, until now, no cases had been described in Portugal.We report a 25-year-old woman, with periodic ...
Tiago Tribolet de Abreu
doaj   +1 more source

Long-term fever in a child: what is the reason, how to examine, treat or not treat?

Медицинский совет, 2020
Long unclear fever in children of different ages remains one of the difficult and topical issues in the paediatric practice. Despite up-to-date techniques of laboratory and instrumental examination, verification of prolonged fever causes remains ...
I. N. Zakharova, I. M. Osmanov, T. M. Tvorogova, A. N. Goryainova, Yu. A. Dmitrieva, A. S. Vorobyeva, N. V. Koroid   +6 more
doaj   +1 more source

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]

, 2020
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Jeddane, Leila, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Sullivan, Kathleen E, Tangye, Stuart G, Torgerson, Troy R   +18 more
core  

Pediatric Pharyngeal IgD-positive Monoclonal Plasmacytoid and Plasma Cell Neoplasm [PDF]

, 2015
Pediatric neoplasm with monoclonal proliferation of lymphoplasmacytoid lymphocytes and plasma cells is exceedingly rare and has essentially never been reported in immunocompetent children.
Long, Catherine, Zhang, Shanxiang
core   +2 more sources

Autoinflammatory Syndromes in the Practice of Pediatrician

Zdorovʹe Rebenka, 2014
В обзорной статье предоставлены информация, характеристика, определение и классификация заболеваний, которые были отнесены к отдельной нозологической группе и названы аутовоспалительными заболеваниями или синдромами (АВС).
S.N. Nedelskaya, I.A. Zhilenko, A.S. Merezhko, A.V. Shapran   +3 more
doaj   +1 more source

Effects of Anakinra on Health-Related Quality of Life in a Patient with 1129G>A/928G>A Mutations in MVK Gene and Heterozygosity for the Mutation 2107C>A in CIAS1 Gene

Frontiers in Pediatrics, 2017
Mevalonate kinase deficiency impairs several aspects of the patient’s quality of life, thus early diagnosis and treatment are required to improve health-related quality of life (HRQOL).
Gianluigi Laccetta, Maria Tutera, Mario Miccoli, Rita Consolini   +3 more
doaj   +1 more source

Neonatal Hepatitis as First Manifestation of Hyperimmunoglobulinemia D Syndrome

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, Vibeke Rosenfeldt   +1 more
doaj   +1 more source

Consensus protocols for the diagnosis and management of the hereditary autoinflammatory syndromes CAPS, TRAPS and MKD/HIDS: a German PRO-KIND initiative

Pediatric Rheumatology Online Journal, 2020
Background Rare autoinflammatory diseases (AIDs) including Cryopyrin-Associated Periodic Syndrome (CAPS), Tumor Necrosis Receptor-Associated Periodic Syndrome (TRAPS) and Mevalonate Kinase Deficiency Syndrome (MKD)/ Hyper-IgD Syndrome (HIDS) are ...
Sandra Hansmann, Elke Lainka, Gerd Horneff, Dirk Holzinger, Nikolaus Rieber, Annette F. Jansson, Angela Rösen-Wolff, Gabi Erbis, Martina Prelog, Juergen Brunner, Susanne M. Benseler, Jasmin B. Kuemmerle-Deschner   +11 more
doaj   +1 more source

Natural history and outcome in systemic AA amyloidosis [PDF]

, 2007
BACKGROUND:Deposition of amyloid fibrils derived from circulating acute-phase reactant serum amyloid A protein (SAA) causes systemic AA amyloidosis, a serious complication of many chronic inflammatory disorders.
Gallimore, JR, Gilbertson, JA, Gillmore, JD, Goodman, HJB, Hawkins, PN, Lachmann, HJ, Sabin, CA   +6 more
core   +1 more source