Results 81 to 90 of about 2,294 (167)

Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept

Hereditary periodic fever syndromes comprise a group of distinct disease entities linked by the defining feature of recurrent febrile episodes. Hyper IgD with periodic fever syndrome (HIDS) is caused by mutations in the mevalonate kinase (MVK) gene.
Mirakian RM, Waterhan HR, Hammond LJ, Vijaydurai PI, Houten SM, Tomlin P, Frenkel J, McDermottt MF, Aganna E, Arkwright PD, Cant AJ   +10 more
core  

Long-term efficacy and safety of Canakinumab in active Hyper-IgD syndrome (HIDS): results from an open-label study [PDF]

Pediatr Rheumatol Online J, 2015
Aróstegui J, Anton J, Calvo I, Robles A, Speziale A, Joubert Y, Junge G, Yagüe J.   +7 more
europepmc   +1 more source

PReS-FINAL-2239: Renal AA amyloidosis in a child with hyper-IgD syndrome and a novel MVK mutation [PDF]

Pediatr Rheumatol Online J, 2013
Fingerhutova S, Kolsky A, Rowczenio D, Lachmann H, Vernerova Z, Votava F, Dolezalova P.   +6 more
europepmc   +1 more source

The molecular pathology of the hyper immunoglobulin M syndrome

, 2000
The Hyper Immunoglobulin M syndrome (HIM) is a rare primary immune deficiency disorder characterised by an inability to produce immunoglobulin isotypes other than IgM and IgD.
Ameratunga, Rohan
core  

A Diagnostic Odyssey: Mevalonate Kinase Deficiency Revealed by Genetic Testing in Adulthood. [PDF]

Genes (Basel)
Kumar V, de Saint-Aubain CJ, Konstantinov KN.   +2 more
europepmc   +1 more source

Renal amyloidosis due to hyper-IgD syndrome

Nefrología, 2012
Li Cavoli, Gioacchino, Passantino, Daniela, Tortorici, Calogera, Bono, Luisa, Ferrantelli, Angelo, Giammarresi, Carlo, Rotolo, Ugo   +6 more
openaire   +4 more sources

Phenotypic Heterogeneity in CD40 Ligand Deficiency: Long-term Follow-up of a Patient with the c.156G > A Splice Variant. [PDF]

J Clin Immunol
Alroqi F, AlJaber AN, Althubaiti N, Al Tuwaijri A, Alzaaqi S, Barhoumi T, Almutairi A, Almuzzaini B, Alsayegh L, Nogoud M, Aljedaie M.   +10 more
europepmc   +1 more source

Amyloid A amyloidosis secondary to hyper IgD syndrome and response to IL-1 blockage therapy

, 2016
A 62-year-old woman with a history of genetically confirmed hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) was admitted because of chronic diarrhoea. During admission she developed a rapidly progressive nephrotic syndrome. Reactive amyloid
Kallianidis, A. F., Goudkade, D., Fijter, J.W. de, Kallianidis, A.F., Ray, A., de Fijter, J. W.   +5 more
core  

Clinical immunology in chromatinopathies: a scoping review. [PDF]

Front Immunol
Jans D, Al B, Bouman A, Geelen JM, Kleefstra T, Placek K.   +5 more
europepmc   +1 more source

Preliminary reference range for B cell subpopulations in peripheral blood of healthy Malaysian children aged 2-15 years. [PDF]

Sci Rep
Jamaluddin J, Ismail IH, Zainal Abidin MA, Mohamad SM, Mahayidin H.   +4 more
europepmc   +1 more source