Results 1 to 10 of about 2,216 (148)

Case Report: Comorbid Hyper-IgD Syndrome and Hidradenitis Suppurativa – A New Syndromic Form of HS? A Report of Two Cases [PDF]

Frontiers in Immunology, 2022
Hidradenitis Suppurativa (HS) is a chronic suppurative disease of the pilosebaceous unit. The current model of HS pathophysiology describes the condition as the product of hyperkeratinisation and inflammation at the hair follicular unit.
Philippe Guillem, Philippe Guillem, Philippe Guillem, Dillon Mintoff, Dillon Mintoff, Dillon Mintoff, Mariam Kabbani, Elie Cogan, Elie Cogan, Virginie Vlaeminck-Guillem, Virginie Vlaeminck-Guillem, Agnes Duquesne, Farida Benhadou, Farida Benhadou, Farida Benhadou   +14 more
doaj   +4 more sources

Nummular keratopathy in a patient with Hyper-IgD Syndrome [PDF]

Pediatric Rheumatology Online Journal, 2009
Purpose To report a case of recurrent nummular keratitis in a pediatric patient with Hyperimmunoglobulinemia D syndrome. Methods A retrospective chart review.
Culican Susan M, Kraus Courtney L
doaj   +5 more sources

A Case of Hyper IgD and Periodic Fever Syndrome in Japan [PDF]

Clinical Medicine Insights: Case Reports, 2008
We report a four-year-old Japanese girl with hyper IgD and periodic fever syndrome. There is a first report of hyper IgD syndrome (HIDS) of which the genomic study was done in Japan.
Hisashi Kawashima M.D.,Ph.D., Akiyoshi Hoshi, Hiroaki Ioi, Chiako Ishii, Satoshi Sato, Yasuyo Kashiwagi, Kouji Takekuma, Akinori Hoshika   +7 more
doaj   +4 more sources

Novel compound heterozygous MVK variants cause early-onset mevalonic aciduria in a Chinese infant [PDF]

Frontiers in Pediatrics
Mevalonate kinase deficiency (MKD) is a rare autosomal recessive autoinflammatory disorder caused by mevalonate kinase (MVK) gene mutations, with phenotypes ranging from mild hyper-IgD syndrome (HIDS) to severe mevalonic aciduria (MA).
Na Li, Weining Li, HongXia Zhang, Xingcui Wang   +3 more
doaj   +2 more sources

A case report of Hyper‐IgD syndrome in a 5‐year‐old girl with recurrent fever, skin rash, and arthralgia; novel MVK mutation (C.298G>A) [PDF]

Clinical Case Reports
Key Clinical Message This case highlights the potential for later‐onset Hyper‐IgD syndrome (HIDS) even beyond infancy. Clinicians evaluating children with recurrent fever, skin rash, and arthralgia should consider HIDS in the differential diagnosis ...
Pooneh Tabibi, Reza Shiari, Shabnam Hajiani Ghotb Abadi   +2 more
doaj   +2 more sources

Mevalonate kinase deficiency (hyperimmunoglobulin D syndrome) in a Tanzanian girl: a case report [PDF]

Journal of Medical Case Reports
Background Hyperimmunoglobulin D syndrome is a rare autosomal recessive autoinflammatory syndrome caused by mevalonate kinase enzyme deficiency. It is characterized by recurrent febrile attacks beginning in the first year of life.
Elisamia Ngowi, Rukhsar Osman, Hajaj Mohamed Salum, Maria Bulimba, Evance Godfrey, Aika Abia Shoo, Nahida Z. Walli, Mohamedraza Ebrahim, Mariam Noorani, Peter M. Swai, Francis F. Furia   +10 more
doaj   +2 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

Hyper-IgD syndrome/mevalonate kinase deficiency: what is new? [PDF]

Semin Immunopathol, 2015
Mulders-Manders CM, Simon A.
europepmc   +2 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   +1 more source

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