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Infantile-onset periodic fever-panniculitis-dermatosis syndrome

AIPDS syndrome is an autosomal recessive disorder caused by mutations of the OTULIN gene. The syndrome includes autoinflammatory periodic fever, panniculitis, and dermatosis.

Systematic

Autoinflammatory disease
Autoinflammation with arthritis and dyskeratosis
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
OTULIN
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.

Damgaard RB et al. (2016) The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity.

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2.

Zhou Q et al. (2016) Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease.

external link
Update: Aug. 14, 2020
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