Results 121 to 130 of about 2,267,031 (171)

Autoimmune cytopenias in inborn errors of immunity: associations with monogenic mutations and immunologic parameters. [PDF]

BMC Immunol
Sağun F, Çölkesen F, Gerek ME, Savaş ŞA, Kolak S, Harman E, Arslan Ş.   +6 more
europepmc   +1 more source

Longitudinal <i>In Vivo</i> Immunophenotyping of Regulatory T Cells Following Adjunctive Molecular Hydrogen Therapy in Systemic Lupus Erythematosus. [PDF]

In Vivo
Liu C, Chen YC, Lu JW, Ho YJ, Lui SW, Hsieh TY, Jheng WL, Wang KY, Liu FC.   +8 more
europepmc   +1 more source

Hypomorphic RAG2 Deficiency Promotes Selection of Self-Reactive B Cells. [PDF]

J Clin Immunol
Thouvenel CD, Tipton CM, Yamazaki Y, Zhang TT, Rylaarsdam S, Hom JR, Snead C, Zhu C, Li QZ, Lee YN, Kawai T, Haque N, Zimmermann MT, Ponnan SM, Jackson SW, James RG, Sanz I, Notarangelo LD, Torgerson TR, Ochs HD, Rawlings DJ, Allenspach EJ.   +21 more
europepmc   +1 more source

Neglected adult PFAPA syndrome. [PDF]

Radiol Case Rep
Zhang A, Zhang R, Jiang Y, Shi L, Luo M.
europepmc   +1 more source

Case Report: Early-onset mevalonic aciduria in neonates with inflammatory marker elevated. [PDF]

Front Immunol
Xue S, Shi W, He X, Hao L.
europepmc   +1 more source

Novel HCK-associated mutation causing autoinflammatory disorder with pulmonary manifestations in a pediatric patient. [PDF]

Pediatr Rheumatol Online J
Berdeli A, Ismayilova S, Gürbüz N.
europepmc   +1 more source

Hyper-IgD syndrome or mevalonate kinase deficiency [PDF]

Current Opinion in Rheumatology, 2011
The hyper-IgD and periodic fever syndrome (HIDS) is one of the classical monogenetic hereditary autoinflammatory disorders, and together with the more severe mevalonic aciduria it is also known as 'mevalonate kinase deficiency' (MKD). In this study, we will give an overview of the primary research on mevalonate kinase deficiency published in the past 2
Stoffels, M., Simon, A.
openaire   +3 more sources

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A patient with hyper-IgD syndrome in Antalya, Turkey

Clinical Rheumatology, 2004
Hyper-IgD syndrome is a periodic fever syndrome that presents with recurrent episodes of high fever accompanied by lymphadenopathy, abdominal distress, arthralgias or arthritis, headache and skin lesions. The diagnosis is based on clinical grounds and elevated serum IgD levels (>100 U/ml), but requires a high index of suspicion, and a mevalonate kinase
Erkan Çoban, Mustafa Ender Terzioğlu
exaly   +3 more sources

Hyper-IGD syndrome: A new case treated with colchicine

Clinical Rheumatology, 1988
We report a new case of hyper-IgD syndrome, a recently described disease characterized by recurrent episodes of fever with headache, bilateral cervical lymphadenopathy and, more rarely, abdominal pain and diarrhoea. Polyclonal increase of serum IgD is the most important laboratory finding.
Paolo Lazzarin, Silvano Todesco, P F Gambari   +2 more
exaly   +3 more sources

Un cas de syndrome hyper-IgD

Revue Francophone Des Laboratoires, 2019
Resume Les fievres recurrentes de l’enfant sont de diagnostic etiologique difficile, car concernent des anomalies metaboliques ou genetiques souvent non encore connues. Elles sont associees a des maladies dont les mecanismes physiopathologiques, et donc les marqueurs biologiques, commencent a etre elucides.
Marie-Nathalie Kolopp-Sarda
exaly   +2 more sources