Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Monogenic interferonopathies: Phenotypic and genotypic findings of CANDLE syndrome and its overlap with C1q deficient SLE.

International journal of rheumatic diseases - 1 Jan 2018

Al-Mayouf Sulaiman M, AlSaleem Alhanouf, AlMutairi Nora, AlSonbul Abdullah, Alzaid Tariq, Alazami Anas M, Al-Mousa Hamoud

Abstract excerpt

OBJECTIVE: To report the clinical and genetic features of the first cases of chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome in an Arab population and to compare them with patients of C1q deficient systemic lupus erythematosus (SLE). MATERIALS AND METHODS: This is a retrospective case series of patients with CANDLE syndrome and C1q deficient SLE seen at a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Arabs
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Complement C1q

Share to Lipodystrophy

Share to Lupus Erythematosus, Systemic

Share to Prognosis

Share to Saudi Arabia

Share to Tertiary Care Centers

Source

Identifiers

PMID: 29115062
DOI: 10.1111/1756-185X.13228

Genes

PSMB8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Monogenic interferonopathies: Phenotypic and genotypic findings of CANDLE syndrome and its overlap with C1q deficient SLE.PMID 29115062Read ↗

CANDLE syndrome: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature-a rare case with a novel mutation.Semantic proximity Read ↗

CANDLE syndrome: a recently described autoinflammatory syndrome.Semantic proximity Read ↗

Monogenic interferon-mediated diseases: novel phenotype and genotype characteristics from a Saudi population.Semantic proximity Read ↗

Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity.Semantic proximity Read ↗

Interferonopathies masquerading as non-Mendelian autoimmune diseases: pattern recognition for early diagnosisSemantic proximity Read ↗

Update on hereditary C1q deficiency: pathophysiology, clinical presentation, genotype and management.Semantic proximity Read ↗

Monogenetic causes of chilblains, panniculitis and vasculopathy: the Type I interferonopathies.Semantic proximity Read ↗

Monogenic lupus: it's all new!Semantic proximity Read ↗

Genetic and phenotypic landscape of monogenic lupus: insights from an international cohort.Semantic proximity Read ↗

Type I Interferonopathies: from a Novel Concept to Targeted Therapeutics.Semantic proximity Read ↗

[Autoinflammatory syndromes in childhood].Semantic proximity Read ↗

Familial chilblain lupus in a child with heterozygous mutation in SAMHD1 and normal interferon signature.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.