Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients.

M, Saito; R, Nishikomori; N, Kambe; A, Fujisawa; H, Tanizaki; K, Takeichi; T, Imagawa; T, Iehara; H, Takada; T, Matsubayashi; H, Tanaka; H, Kawashima; K, Kawakami; S, Kagami; I, Okafuji; T, Yoshioka; S, Adachi; T, Heike; Y, Miyachi; T, Nakahata

doi:10.1182/blood-2007-06-094201

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Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients.

Shared by NobleBlocks on Dec 6, 2007 • 12:00 AM UTC

Authors:

Saito M

Nishikomori R

Kambe N

Abstract

Cryopyrin-associated periodic syndrome (CAPS) is a spectrum of systemic autoinflammatory disorders in which the majority of patients have mutations in the cold-induced autoinflammatory syndrome (CIAS)1 gene. Despite having indistinguishable clinical features, some patients lack CIAS1 mutations by co...

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