Autoinflammation with arthritis and dyskeratosis

Autoinflammation with arthritis and dyskeratosis is an autosomal dominant or resessive disorder caused by mutations of the NLRP1 gene.

Systematic

Autoinflammatory disease
	Autoinflammation with arthritis and dyskeratosis
		NLRP1
	Autoinflammation, antibody deficiency, and immune dysregulation syndrome
	Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia
	CARD14 associated psoriasis
	Chronic recurrent multifocal osteomyelitis
	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
	F12
	Familial cold autoinflammatory syndromes
	Hereditary pediatric Behçet-like disease
	Infantile-onset periodic fever-panniculitis-dermatosis syndrome
	Inflammatory bowel disease
	Interleukin 10 deficiency
	Interleukin 10 receptor deficiency
	Interleukin-1 receptor antagonist deficiency
	Periodic fever-infantile enterocolitis-autoinflammatory syndrome
	Proteasome-associated autoinflammatory syndrome
	Pseudo-TORCH-Syndrom
	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
	SH3BP2 deficienc with multilocular cysticy disease of the mandibles
	STING-associated vasculopathy with onset in infancy
	Singleton-Merten syndrome
	Susceptibility to malignant hyperthermia 5
	Susceptibility to rheumatoid arthritis
	Systemic autoinflammatory disease
	Systemic-onset juvenile idiopathic arthritis
	TNF receptor-associated periodic syndrome

References:

1.	Girard C et al. () Vitamin a deficiency phrynoderma associated with chronic giardiasis.

2.	Grandemange S et al. (2017) A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (associated autoinflammation with arthritis and dyskeratosis).

Update: June 23, 2025

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