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Pyogenic arthritis-pyoderma gangrenosum-acne syndrome

PAPA syndrome is an autosomal dominant autoinflammatory disease caused by mutations of the PSTPIP1. The syndrome consists of pyogenic arthritis, pyoderma gangrenosum, and acne.

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
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
PSTPIP1
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.

Yeon HB et al. (2000) Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome maps to chromosome 15q.

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2.

Wise CA et al. (2002) Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder.

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3.

Jacobs JC et al. (1975) "Streaking leukocyte factor," arthritis, and pyoderma gangrenosum.

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4.

Lindor NM et al. (1997) A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome.

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5.

Wise CA et al. (2000) Localization of a gene for familial recurrent arthritis.

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Update: Aug. 14, 2020
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