Results 151 to 160 of about 27,529 (230)

Case Report: Clinical application of an <i>in vitro</i> prenylation assay in the diagnosis of an early-onset case of mevalonate kinase deficiency harbouring a novel <i>MVK</i> variant. [PDF]

Front Pediatr
Burleigh A, Kul Cinar O, Torpiano P, Munoz MA, Abell-King C, Rogers MJ, Eleftheriou D, Brogan PA.   +7 more
europepmc   +1 more source

Clinical, immunological characterisation and treatment response of patients with syndrome of undifferentiated recurrent fever in Chinese children and adolescents: a single-centre cohort study. [PDF]

Front Immunol
Chen X, Xing W, Li Y, Yang M, Shu Z, Mao H.   +5 more
europepmc   +1 more source

A case report of Behcet's disease in a child with trisomy 8 and literature review. [PDF]

Front Pediatr
Zhang K, Wei C, Jiang L, Zhao X, Su Q, Qi X, Zhao H, Rong Z.   +7 more
europepmc   +1 more source

From activator to suppressor: PACT is joining the company of PKR negative regulators. [PDF]

RNA
Acosta FM, Pfaller CK.
europepmc   +1 more source

X-linked Multisystem Autoinflammatory Disease With Immune Dysregulation in a Pediatric Patient: A Rare Case and Review of the Literature. [PDF]

Cureus
Laranja S, Piscalho I, Caetano M, Coelho I, Gaspar L, Virtuoso MJ.   +5 more
europepmc   +1 more source

Mapping the landscape of autoimmunity and autoinflammation in inborn errors of immunity: broad distribution with distinct clustering patterns. [PDF]

Front Immunol
Tahiat A, Touri S, Saad-Djaballah A, Hakem S, Fernini F, Aggoune S, Belhadj H, Bendahmane C, Mokrane L, Bencharif Madani T, Benhacine Z, Melzi S, Aboura R, Messaoudi H, Boudiaf H, Ladj MS, Khelifi Touhami T, Taibi L, Zobiri S, Bouhdjila R, Bouzerar Z, Ibsaine O, Kedji L, Yagoubi A, Belbouab R, Boukari R, Smati L, Rosenzweig SD, Bogunovic D, Notarangelo LD, Djenouhat K.   +30 more
europepmc   +1 more source

Case Report: Diverse pediatric phenotypes of <i>RELA</i> frameshift variants: comparison of two cases. [PDF]

Front Immunol
Hou L, Yin L, Zhao C, Du Y.
europepmc   +1 more source

Consanguinity and rare monogenic systemic autoinflammatory disorders: implications for prevalence and genetic variability. [PDF]

Pediatr Rheumatol Online J
AlSaleem A, Al-Mayouf SM.
europepmc   +1 more source

Autoinflammation in rheumatic and musculoskeletal disorders [PDF]

Rheumatology International, 2017
openaire   +2 more sources

Opinion: Why paediatric rheumatologists need to understand inborn errors of immunity. [PDF]

Front Pediatr
Abinun M, Owens S.
europepmc   +1 more source