Cold Allergy and Cold Pathergy

Urbach, Erich

doi:10.1001/archderm.1941.01490200148014

Cited by 28 publications

(5 citation statements)

References 5 publications

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“…Additionally, several other large North American families reported in the last 60 years (Derbes and Coleman 1972;Kile and Rusk 1940;Shepard 1971;Tindall et al 1969) are related to these four families (based on names and family reports), and several more are very likely to be related to these four large families (Martin et al 1981;Rodin 1951;Urbach et al 1941;Witherspoon et al 1948). Key recombination events are observed between D1S2836 and AFM207xa7 in subject 2D, between AFMb005wh9 and AFM155xc11 in subject 3D, and between D1S3772 and D1S3773 in subject 4C tested demonstrated this mutation, but none of the unaffected subjects or normal blood bank controls did.…”

Section: Resultsmentioning

confidence: 99%

“…Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P description in 1940 (Castelain 1971;Commerford and Meyers 1977;Derbes and Coleman 1972;Doeglas 1973;Fordyce and Coulson 1993;Kalogeromitros et al 1995;Kile and Rusk 1940;Martin et al 1981;Ormerod et al 1993;Rodin 1951;Roux et al 1982;Shepard 1971;Tindall et al 1969;Urano et al 1998;Urbach et al 1941;Vlagopoulos et al 1975;Wanderer 1979;Witherspoon et al 1948;Zip et al 1993). Most of the reports describe large families with extensive pedigrees, but apparent de novo mutations and sporadic cases have also been described.…”

Section: Hal M Hoffman · Simon G Gregory · James L Mueller · Mark mentioning

confidence: 99%

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Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P

et al. 2003

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Familial cold autoinflammatory syndrome (FCAS) is an autosomal dominant inflammatory disease with a high degree of penetrance that is characterized by episodes of rash, arthralgia, fever, conjunctivitis, and leukocytosis after generalized exposure to cold. FCAS was previously mapped to a 10-cM region on chromosome 1q44, and subsequently the gene (CIAS1) responsible for FCAS was identified. In this paper, we describe the physical and genetic mapping of the FCAS locus, and we report a large ancestral haplotype and a new disease-causing mutation. A BAC contig of approximately 3 Mb was developed and subsequently used for high throughput sequencing. We identified a critical region of 4 cM using rare crossover events in four large North American FCAS families. An unusually large shared haplotype (40 cM) was identified in three of the four families. We found a single heterozy-gous missense mutation (T1058C=L353P) in exon 3 of CIAS1 in all four families that is responsible for the large majority of FCAS cases described in the literature. We also report a comprehensive list of intragenic single nucleotide polymorphisms. The data provided here will assist others researching the 1q44 region and will aid clinicians in the diagnosis of FCAS.

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Section: Resultsmentioning

confidence: 99%

Section: Hal M Hoffman · Simon G Gregory · James L Mueller · Mark mentioning

confidence: 99%

Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P

et al. 2003

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“…The clinical features, histological findings and laboratory abnormalities in this patient are in good agreement with earlier reports of FPCE, except for the absence of a family history. Although, to our knowledge, FPCE is an inherited dominant trait in all cases reported in the literature, 1 –15 we believe that the most likely diagnosis in this patient is FPCE. Serum levels of granulocyte colony‐stimulating factor (G‐CSF) and interleukin 6 (IL‐6) were significantly elevated during an acute attack.…”

mentioning

confidence: 69%

“…The skin lesions of FPCE are not actually characterized by urticaria but by erythematous macules and papules that do not itch; instead they burn or hurt. To our knowledge, 15 FPCE pedigrees have been described in the literature, 1 –15 with all reported cases proposed as being inherited as an autosomal dominant trait. The clinical features, histological findings and laboratory abnormalities in our patient were in good agreement with earlier reports of FPCE, except that our patient had no family history of a similar condition.…”

Section: Discussionmentioning

confidence: 99%

An unusual reaction to cold: a sporadic case of familial polymorphous cold eruption?

Urano

Shikiji

et al. 1998

British Journal of Dermatology

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A 14-year-old Japanese girl had a lifelong history of skin lesions developing after generalized exposure to cold air; the lesions were often accompanied by systemic symptoms such as fever and chills. The skin lesions were non-pruritic, maculopapular, erythematous eruptions and were neither urticarial nor angioedematous. An ice-cube test was negative. Laboratory examinations showed marked leucocytosis during an acute attack. On the basis of clinical features, histological findings and laboratory data, although these symptoms were sporadic, the most likely diagnosis was familial polymorphous cold eruption, which has also been referred to as familial cold urticaria. Serum levels of granulocyte colony-stimulating factor and interleukin 6 were significantly elevated during an acute attack after cold exposure, suggesting that both cytokines played important parts in the development of her condition.

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“…Familial cold urticaria (FCU) was first described in 1940 by Kile and Rusk; it has also been referred to as familial polymorphous cold eruption (Martin et al 1981), cold hypersensitivity (MIM 120100) (Shepard 1971), cold pathergy, and cold-specific vasomotor neuropathy (Urbach et al 1941). Although the exact prevalence of FCU is unknown, ∼20 different families whose members have FCU have been reported (Kile and Rusk 1940;Urbach et al 1941;Witherspoon et al 1948;Rodin and Bluefarb 1951;Tindall et al 1969;Castelain 1971;Shepard 1971;Derbes and Coleman 1972;Doeglas 1973;Vlagopoulos et al 1975;Commerford and Meyers 1977;Wanderer 1979;Martin et al 1981;Roux et al 1982;Fordyce and Coulson 1993;Ormerod et al 1993;Zip et al 1993;Kalogeromitros et al 1995).…”

mentioning

confidence: 99%

Identification of a Locus on Chromosome 1q44 for Familial Cold Urticaria

Hoffman

Wright

Broide

et al. 2000

The American Journal of Human Genetics

123

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Familial cold urticaria (FCU) is a rare autosomal dominant inflammatory disorder characterized by intermittent episodes of rash with fever, arthralgias, conjunctivitis, and leukocytosis. These symptoms develop after generalized exposure to cold. Some individuals with FCU also develop late-onset reactive renal amyloidosis, which is consistent with Muckle-Wells syndrome. By analyzing individuals with FCU from five families, we identified linkage to chromosome 1q44. Two-point linkage analysis revealed a maximum LOD score (Zmax) of 8.13 (recombination fraction 0) for marker D1S2836; multipoint linkage analysis identified a Zmax of 10. 92 in the same region; and haplotype analysis defined a 10.5-cM region between markers D1S423 and D1S2682. Muckle-Wells syndrome was recently linked to chromosome 1q44, which suggests that the two disorders may be linked to the same locus.

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Cold Allergy and Cold Pathergy

Cited by 28 publications

References 5 publications

Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P

Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P

An unusual reaction to cold: a sporadic case of familial polymorphous cold eruption?

Identification of a Locus on Chromosome 1q44 for Familial Cold Urticaria

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