Systemic Amyloidosis and Monoclonal Gammopathy in Three Italian Siblings : A Familian Case of AL-Amyloidosis?

Miliani, A; Bergesio, Franco; Salvadori, Maurizio; Ciciani, Anna Maria; Merlini, Giampaolo; Guglielmo, R Di; Menicucci, Andrea; Torricelli, Federica; Lollo, Simonetta Di; Amantini, A.; Mancucci, M.; Sodi, Andrea; Zuccarini, S.; Capobianco, Teresa

doi:10.1007/978-94-011-3284-8_57

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“…[45][46][47] There are several reports of the familial incidence of myeloma, the germline genetics of which have not been established. 48 There are a smaller number of reported instances of familial AL but no genetic studies have been performed on any of these very rare kindreds 49,50 Interestingly, a number of studies have reported that African-Americans have a higher frequency of multiple myeloma and examination of the Department of Veterans Affairs inpatient data base suggests that they also have a higher frequency of AL. 51 Similarly, an extensive autopsy series indicated that Hispanics of Mexican descent seemed to have a higher prevalence of both AL and AA, but neither observation has been confirmed by a formal epidemiologic study nor have they been subjected to genetic analysis; hence, the possibility remains that the effect may be environmental rather than genetic.…”

Section: Amyloidoses Derived From Molecules Involved In Immune Functionmentioning

confidence: 99%

The genetics of the amyloidoses: interactions with immunity and inflammation

Buxbaum

2006

Genes Immun

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Historically, the amyloidoses have been associated with inflammation and the immune response. From Virchow's original description in human pathologic inflammatory states through their identification in horses used to produce antitoxin to their frequent occurrence in the course of multiple myeloma and a somewhat abortive designation as 'gammaloid', the disorders were felt to have an inflammatory origin. These presumptive associations antedated the availability of a reliable method for tissue extraction that would allow chemical analysis of the major deposited molecules. With the identification of the multiple precursors and the realization that most were not intrinsic elements of immune/inflammatory pathways, the investigative emphasis shifted to the analysis of the biophysical events involved in aggregation and fibril formation. As more in vivo models and better tools for examination of tissues have become available, it appears as if inflammation may participate as both a response to, and an amplifier of, the effects of the fibrillar aggregates. Hence, while only a limited number of amyloid protein precursors are involved in immunity and inflammation per se, host defense, in its broadest sense, is likely to be involved in the clinically relevant amyloidoses. Further it now appears that harnessing the immune respone in an appropriate fashion may be able to play a role in treatment.

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Section: Amyloidoses Derived From Molecules Involved In Immune Functionmentioning

confidence: 99%

The genetics of the amyloidoses: interactions with immunity and inflammation

Buxbaum

2006

Genes Immun

View full text Add to dashboard Cite

show abstract

Systemic Amyloidosis and Monoclonal Gammopathy in Three Italian Siblings : A Familian Case of AL-Amyloidosis?

Cited by 1 publication

References 3 publications

The genetics of the amyloidoses: interactions with immunity and inflammation

The genetics of the amyloidoses: interactions with immunity and inflammation

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