A Case of Cold Urticaria With an Unusual Family History

Kile, Roy L.; Rusk, Howard A.

doi:10.1001/jama.1940.62810120003010b

Cited by 96 publications

(58 citation statements)

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AbstractFamilial cold autoinflammatory syndrome (FCAS, MIM 120100), commonly known as familial cold urticaria (FCU), is an autosomal-dominant systemic inflammatory disease characterized by intermittent episodes of rash, arthralgia, fever and conjunctivitis after generalized exposure to cold [1][2][3][4] . FCAS was previously mapped to a 10-cM region on chromosome 1q44 (refs.

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confidence: 99%

Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndrome

et al. 2001

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Familial cold autoinflammatory syndrome (FCAS, MIM 120100), commonly known as familial cold urticaria (FCU), is an autosomal-dominant systemic inflammatory disease characterized by intermittent episodes of rash, arthralgia, fever and conjunctivitis after generalized exposure to cold [1][2][3][4] . FCAS was previously mapped to a 10-cM region on chromosome 1q44 (refs. 5,6). Muckle-Wells syndrome (MWS; MIM 191900), which also maps to chromosome 1q44, is an autosomal-dominant periodic fever syndrome with a similar phenotype except that symptoms are not precipitated by cold exposure and that sensorineural hearing loss is frequently also present [6][7][8] . To identify the genes for FCAS and MWS, we screened exons in the 1q44 region for mutations by direct sequencing of genomic DNA from affected individuals and controls. This resulted in the identification of four distinct mutations in a gene that segregated with the disorder in three families with FCAS and one family with MWS. This gene, called CIAS1, is expressed in peripheral blood leukocytes and encodes a protein with a pyrin domain 9-11 , a nucleotide-binding site (NBS, NACHT subfamily 12 ) domain and a leucine-rich repeat (LRR) motif region 13 , suggesting a role in the regulation of inflammation and apoptosis.We previously identified a locus for FCAS on chromosome 1q44 between markers D1S423 and D1S2682 (ref. 5). We developed a physical contig of bacterial artificial chromosomes (BACs) and P1-derived artificial chromosomes and narrowed the critical region to less than 1 Mb using haplotype analysis (data not shown). We used ESTs mapping to this region and The four-generation family with FCAS (family 1; Fig. 1) has an apparent de novo mutation that first appeared in subject 4 on a chromosome inherited from her mother. Only the affected members of subsequent generations of the family (subjects 5, 9 and 11) inherited this chromosome. We found a missense mutation in subject 4 that segregated with the disease haplotype in subsequent generations (subjects 5, 9 and 11). This mutation was not present in either of her parents (subjects 1 and 2), even though the unaffected mother (subject 2) possessed the haplotype that segregates with disease in this family.The other two families with FCAS (families 2 and 3) also had different missense mutations in the same exon; these were present in all affected family members (Fig. 2). In the one family studied with affected members with a diagnosis of MWS (family 4), both affected individuals had sensorineural hearing loss (Fig. 2). This family also had a missense mutation in the same exon as the families with FCAS. As in family 1, the phenotype of family 4 resulted from a de novo mutation. The unaffected mother (DNA was not available from the father) in family 4 possessed the haplotype that segregates with the disease in subsequent generations (data not shown), but she did not have the mutation that was found in all of the affected family members. These missense mutations were not found in any unaffected individuals in thes...

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Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndrome

et al. 2001

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“…These individuals have recurrent or chronic inflammatory symptoms, including fever, arthritis, and a urticaria-like eruption characterized by neutrophilic infiltration. In FCAS, symptoms can be elicited by cold provocation by a mechanism that appears to be mediated through the skin (15,21).…”

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NLRP3/Cryopyrin Is Necessary for Interleukin-1β (IL-1β) Release in Response to Hyaluronan, an Endogenous Trigger of Inflammation in Response to Injury

Yamasaki¹,

Muto²,

Taylor³

et al. 2009

Journal of Biological Chemistry

262

191

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Inflammation under sterile conditions is a key event in autoimmunity and following trauma. Hyaluronan, a glycosaminoglycan released from the extracellular matrix after injury, acts as an endogenous signal of trauma and can trigger chemokine release in injured tissue. Here, we investigated whether NLRP3/ cryopyrin, a component of the inflammasome, participates in the inflammatory response to injury or the cytokine response to hyaluronan. Mice with a targeted deletion in cryopyrin showed a normal increase in Cxcl2 in response to sterile injuries but had decreased inflammation and release of interleukin-1␤ (IL-1␤). Similarly, the addition of hyaluronan to macrophages derived from cryopyrin-deficient mice increased release of Cxcl2 but did not increase IL-1␤ release. To define the mechanism of hyaluronan-mediated activation of cryopyrin, elements of the hyaluronan recognition process were studied in detail. IL-1␤ release was inhibited in peritoneal macrophages derived from CD44-deficient mice, in an MH-S macrophage cell line treated with antibodies to CD44, or by inhibitors of lysosome function. The requirement for CD44 binding and hyaluronan internalization could be bypassed by intracellular administration of hyaluronan oligosaccharides (10 -18-mer) in lipopolysaccharide-primed macrophages. Therefore, the action of CD44 and subsequent hyaluronan catabolism trigger the intracellular cryopyrin 3 IL-1␤ pathway. These findings support the hypothesis that hyaluronan works through IL-1␤ and the cryopyrin system to signal sterile inflammation.Inflammation, as defined by changes in vascular permeability and leukocyte recruitment, is an essential step for the control of microbial invasion. Specific microbial products trigger this process through a diverse array of innate immune pattern recognition receptors. However, an inflammatory response independent of infection is also an important process for maintenance of biological homeostasis. For example, normal wound healing requires a controlled inflammatory response to enable the recruitment of monocytes and the release of growth factors required for repair. This response can occur in the absence of microbial stimuli. Furthermore, inflammation and the release of proinflammatory mediators is also associated with many diseases such as rheumatoid arthritis and Crohn disease (1). These diseases are not well understood in terms of their triggers but rather are described by the subsequent release of proinflammatory mediators. Identification of the triggers of sterile inflammation represents an important goal with immediate diagnostic and therapeutic significance.Recent work has begun to elucidate pathways of inflammation that occur in the absence of microbial stimuli. Stress signals such as heat-shock proteins, intracellular components of necrotic cells not normally seen by immune cells, and components of the extracellular matrix have all been implicated as endogenous triggers of injury (2-4). Among this group is the glycosaminoglycan hyaluronan (HA), 6 an important structural compo...

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“…Атаки могут сопровождаться конъюнктивитом, потливостью, сонливостью, головной болью, мучительной жаждой и тошнотой. Случаи амилоидоза при FCAS/FCU [10]. В 2010 г.…”

Section: криопирин-ассоциированные периодические синдромыunclassified

Hereditary periodic fever syndromes in adult rheumatology practice

Желябина¹,

Елисеев²,

Чикина³

2018

RJTAO

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Аутовоспалительные заболевания (АВЗ) -гетероген-ная группа редких генетически детерминированных, на-следственно обусловленных состояний, характеризую-щихся непровоцируемыми приступами воспаления, ма-нифестирующими рецидивирующей лихорадкой и кли-нической симптоматикой, напоминающей ревматиче-ские проявления, при отсутствии аутоиммунных или ин-фекционных причин. По данным эпидемиологических исследований последних лет, распространенность АВЗ растет во всем мире, что обусловлено улучшением их ди-агностики и лечения. Так, если раньше исход многих за-болеваний был предрешен и курация таких пациентов сводилась к симптоматическому лечению и наблюдению, то в настоящее время возможности генетической диагно-стики и патогенетической терапии значительно расши-рились [1,2].Термин «аутовоспалительные заболевания» появился недавно. В конце ХХ столетия D. Kastner и J. O`Shea пред-ложили термин «аутовоспаление» [1]. Первое описание АВЗ принадлежит выдающемуся английскому клиницисту У. Ге-бердену и датировано 1802 г., но тогда оно осталось без вни-мания [3].

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A Case of Cold Urticaria With an Unusual Family History

Cited by 96 publications

References 3 publications

Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndrome

Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndrome

NLRP3/Cryopyrin Is Necessary for Interleukin-1β (IL-1β) Release in Response to Hyaluronan, an Endogenous Trigger of Inflammation in Response to Injury

Hereditary periodic fever syndromes in adult rheumatology practice

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