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Article

Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus.

American journal of medical genetics. Part A - 1 Jan 2011

Ravenscroft Jane C, Suri Mohnish, Rice Gillian I, Szynkiewicz Marcin, Crow Yanick J

Abstract excerpt

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Topics

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Share to Adolescent
Share to SAMHD1 gene
Share to Genes, Dominant
Share to Lupus Erythematosus, Cutaneous

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Monomeric GTP-Binding Proteins

Share to Mutation

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Share to SAM Domain and HD Domain-Containing Protein 1

Source

Identifiers

PMID: 21204240
DOI: 10.1002/ajmg.a.33778

Genes

SAMHD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus.PMID 21204240Read ↗

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

Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke.Semantic proximity Read ↗

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune responseSemantic proximity Read ↗

Compound heterozygosity for dominant and recessive DSG1 mutations in a patient with atypical SAM syndrome (severe dermatitis, multiple allergies, metabolic wasting).Semantic proximity Read ↗

A heterozygous mutation in the SAM domain of p63 underlies a mild form of ectodermal dysplasia.Semantic proximity Read ↗

A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi–Goutiéres syndrome associated with mtDNA deletionsSemantic proximity Read ↗

One mutation, divergent journeys: expanding the clinical spectrum of homozygous SAMHD1 deficiency in childhood.Semantic proximity Read ↗

Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome.Semantic proximity Read ↗

Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures.Semantic proximity Read ↗

Autosomal dominant familial generalized pustular psoriasis caused by a CARD14 mutation.Semantic proximity Read ↗

SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damageSemantic proximity Read ↗

A homozygous mutation in the PSMB8 gene in a case with proteasome-associated autoinflammatory syndrome.Semantic proximity Read ↗

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