Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Interleukin-1 receptor antagonist deficiency

Interleukin-1 receptor antagonist deficiency is an autosomal recessive disorder caused by mutations of the IL1RN. Clinical manifestation starts in neonatal period with cutaneous pustulosis. Multifocal aseptic osteomyelitis is predominantly located at distal ribs, long bones, and vertebrae. C-reactive protein is elevated without fever.

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
IL1RN
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.

Aksentijevich I et. al. (2009) An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist.

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2.

Reddy S et. al. (2009) An autoinflammatory disease due to homozygous deletion of the IL1RN locus.

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3.

Sofman MS et. al. (1990) Dermatoses associated with sterile lytic bone lesions.

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4.

Leung VC et. al. () Infantile cortical hyperostosis with intramedullary lesions.

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5.

Ivker RA et. al. (1993) Infantile generalized pustular psoriasis associated with lytic lesions of the bone.

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Update: Aug. 14, 2020
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