Cargando…

Cutaneous Vasculitis and Digital Ischaemia Caused by Heterozygous Gain-of-Function Mutation in C3

It is now increasingly recognized that some monogenic autoinflammatory diseases and immunodeficiencies cause vasculitis, although genetic causes of vasculitis are extremely rare. We describe a child of non-consanguineous parents who presented with cutaneous vasculitis, digital ischaemia and hypocomp...

Descripción completa

Detalles Bibliográficos
Autores principales:	Omoyinmi, Ebun, Mohamoud, Iman, Gilmour, Kimberly, Brogan, Paul A., Eleftheriou, Despina
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2018
Materias:	Immunology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6221951/ https://www.ncbi.nlm.nih.gov/pubmed/30443255 http://dx.doi.org/10.3389/fimmu.2018.02524

Ejemplares similares

Cutaneous Vasculitis and Recurrent Infection Caused by Deficiency in Complement Factor I
por: Nanthapisal, Sira, et al.
Publicado: (2018)

Case report: marfan syndrome (MFS) mimicking cutaneous vasculitis
por: Price-Kuehne, Fiona, et al.
Publicado: (2023)

Vasculitis in a patient with mevalonate kinase deficiency (MKD): a case report
por: Omoyinmi, Ebun, et al.
Publicado: (2021)

A rapid turnaround gene panel for severe autoinflammation: Genetic results within 48 hours
por: McCreary, Dara, et al.
Publicado: (2022)

De Novo PTEN Mutation in a Young Boy with Cutaneous Vasculitis
por: Mauro, Angela, et al.
Publicado: (2017)

Janus kinase 1/2 inhibition for the treatment of autoinflammation associated with heterozygous TNFAIP3 mutation
por: Mulhern, Ciara M., et al.
Publicado: (2019)

Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2
por: Hong, Ying, et al.
Publicado: (2019)

Efficacy and safety of anakinra for undifferentiated autoinflammatory diseases in children: a retrospective case review
por: Garg, Suchika, et al.
Publicado: (2019)

Janus kinase 1/2 inhibition with baricitinib in the treatment of juvenile dermatomyositis
por: Papadopoulou, Charalampia, et al.
Publicado: (2019)

Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in IRAK4
por: Cooray, Samantha, et al.
Publicado: (2023)

Vasculitis in children
por: Eleftheriou, Despina, et al.
Publicado: (2009)

Vasculitis update: pathogenesis and biomarkers
por: Brogan, Paul, et al.
Publicado: (2017)

Moyamoya-like cerebrovascular disease in a child with a novel mutation in myosin heavy chain 11
por: Keylock, Annette, et al.
Publicado: (2018)

Therapeutic advances in the treatment of vasculitis
por: Eleftheriou, Despina, et al.
Publicado: (2016)

Small vessel vasculitis
por: Brogan, Paul, et al.
Publicado: (2009)

Autoinflammation due to homozygous S208 MEFV mutation
por: Hong, Ying, et al.
Publicado: (2019)

The Molecular Biology and Treatment of Systemic Vasculitis in Children
por: Eleftheriou, Despina, et al.
Publicado: (2012)

Lentiviral Mediated ADA2 Gene Transfer Corrects the Defects Associated With Deficiency of Adenosine Deaminase Type 2
por: Hong, Ying, et al.
Publicado: (2022)

Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis
por: Omoyinmi, Ebun, et al.
Publicado: (2017)

Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene
por: Hong, Ying, et al.
Publicado: (2020)

Medium-size-vessel vasculitis
por: Dillon, Michael J., et al.
Publicado: (2009)

Whole-Exome Sequencing Revealing Somatic NLRP3 Mosaicism in a Patient With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome
por: Omoyinmi, Ebun, et al.
Publicado: (2014)

Identification of a novel monogenic autoinflammatory disease due to mutation in a mitochondrial chaperone protein in a single kindred, and cure with allogeneic haematopoietic stem cell transplantation
por: Standing, Ariane, et al.
Publicado: (2014)

Mitochondrial and oxidative stress genes are differentially expressed in neutrophils of sJIA patients treated with tocilizumab: a pilot microarray study
por: Omoyinmi, Ebun, et al.
Publicado: (2016)

Gene hunting in autoinflammation
por: Standing, Ariane, et al.
Publicado: (2013)

A case of Myhre syndrome mimicking juvenile scleroderma
por: Jensen, Barbara, et al.
Publicado: (2020)

Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1
por: Standing, Ariane S.I., et al.
Publicado: (2017)

Impaired function of endothelial progenitor cells in children with primary systemic vasculitis
por: Hong, Ying, et al.
Publicado: (2015)

TRAP1 chaperone protein mutations and autoinflammation
por: Standing, Ariane SI, et al.
Publicado: (2019)

Preliminary validation of the paediatric vasculitis activity score (PVAS)
por: Price-Kuehne, Fiona E, et al.
Publicado: (2011)

Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation
por: McCreary, Dara, et al.
Publicado: (2019)

Curation and expansion of the Human Phenotype Ontology for systemic autoinflammatory diseases improves phenotype-driven disease-matching
por: Maassen, Willem, et al.
Publicado: (2023)

Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism—UK Single Center Experience
por: Rowczenio, Dorota M., et al.
Publicado: (2017)

Tofacitinib Treatment of Refractory Cutaneous Leukocytoclastic Vasculitis: A Case Report
por: Zhu, Kai-Jun, et al.
Publicado: (2021)

A Unique Heterozygous CARD11 Mutation Combines Pathogenic Features of Both Gain- and Loss-of-Function Patients in a Four-Generation Family
por: Desjardins, Marylin, et al.
Publicado: (2018)

Screening assays for primary haemophagocytic lymphohistiocytosis in children presenting with suspected macrophage activation syndrome
por: Cruikshank, Mary, et al.
Publicado: (2015)

Progressive neurologic disorder: Initial manifestation of hemophagocytic lymphohistiocytosis
por: Murphy, Claire, et al.
Publicado: (2016)

Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma
por: Minskaia, Ekaterina, et al.
Publicado: (2023)

OA28 A rare case of cardiac tumour in infancy mimicking sarcoidosis
por: Al Mheiri, Ayesha, et al.
Publicado: (2022)

The Anti-inflammatory Effects of HMGB1 Blockades in a Mouse Model of Cutaneous Vasculitis
por: Wang, Jin, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_joaflbfdcp67k3im7g6cvfv9fv