Results 71 to 80 of about 2,294 (167)

Severe Hyper IgD Syndrome Associated with Heterozygote S52N Mevalonate Kinase Mutation

, 2017
Hiperimmünglobülin D sendromu mevolinat kinaz genindeki mutasyonların neden olduğu otozomal resesif geçişli nadir görülen otoinflamatuvar bir hastalıktır. Hastalık klinik olarak infantil dönemde tekrarlayan ateş atakları ile karakterizedir.
Gönül Çaltepe, Afig Berdeli, Atakan Comba, Mehmet Halil Çeliksoy, Alişan Yıldıran, Yildiran, Alisan, Caltepe, Gonul, Comba, Atakan, Berdeli, Afig, Celiksoy, Mehmet Halil   +9 more
core   +1 more source

Comment to Santos et. al., "Hyper-IgD and periodic fever syndrome: a new MVK mutation (p.R277G) associated with a severe phenotype"

, 2015
We performed molecular modeling analysis onto a novel mutation in the gene MVK, described by Santos et al., found to be causative of a severe form of Hyper-IgD/Mevalonate Kinase Deficiency.
Santos, Ruda de Luna Almeida, CROVELLA, SERGIO, Celsi, Fulvio   +2 more
core   +1 more source

Bilateral Optic Neuropathy Responsive to Steroids in A Patient with Hyper-Immunoglobulin-D-Syndrome

, 2013
We present the case of a young woman with hyper-IgD syndrome (HIDS) due to heterozygous V377I and I268T mutations, who developped a bilateral optic neuritis.
George, Jennifer, Broehl, Annika, Maschke, Matthias, KLAWE, Christoph   +3 more
core  

[Recurrent febrile episodes--normal, periodic fever syndrome or immunodeficiency?]

, 2006
Fever is one of the main symptoms leading to medical evaluation. Not only infections cause fever but also inflammatory disorders. To distinguish one from another, a thorough medical history and clinical evaluation are needed. Sometimes, only the clinical
Duppenthaler, A
core  

Hyper-IgD and Periodic Fever Syndrome: a New MVK Mutation (p.R277G) Associated with a Severe Phenotype

, 2014
Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS; MIM#260920) is a rare recessively-inherited autoinflammatory condition caused bymutations in the MVK gene, which encodes for mevalonate kinase, an essential enzyme in the isoprenoid pathway ...
Conde, M, Neves, C, Aróstegui, J, Santos, J, Brito, MJ   +4 more
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Le syndrome hyper IgD

, 2002
REIMS-BU Santé (514542104) / SudocPARIS-BIUM (751062103 ...
JALEM, Sonia, PIETREMENT, Christine
core  

Hyper-IgD syndrome: a life with fever [PDF]

, 1996
Contains fulltext : mmubn000001_220850844.pdf (Publisher’s version ) (Open Access)Promotor : J.
Drenth, J.P.H.
core  

Recurrent Fever of Unknown Origin (FUO) Due to Periodic Fever, Aphthous Stomatititis, Pharyngitis and Adenitis (FAPA) Syndrome in an Adult

, 2013
FAPA syndrome (periodic fever, aphthous stomatititis, pharyngitis and adenitis) is a relatively new entity described in pediatric patients. In adults, reports of FAPA are limited to rare case reports. The differential diagnosis of FAPA in adults includes
Burke Cunha, Sigridh Muñoz-Gómez
core   +1 more source

Interleukin 1 blockade withcanakinumab for Hyper IGD syndrome (HIDS) [PDF]

Pediatr Rheumatol Online J, 2015
Brunnner J, Binder E, Karall D, Zschocke J, Fauth C.   +4 more
europepmc   +1 more source

Periodic Fever Syndrome and Developmental Delay

, 2019
The key to diagnosis of mevalonate kinase deficiency, hyper-IgD syndrome (MKD/HIDS) is recurrent fever attacks of 4–6 days, associated with aphthous stomatitis, enlargement of lymph nodes, splenomegaly, abdominal pain, diarrhea, and rash MKD is a rare ...
Berg, Stefan,, Stefan Berg, Wekell, Per,, Per Wekell, Anders Fasth, Fasth, Anders,   +5 more
core   +1 more source