Interleukin 10 receptor deficiency

Interleukin 10 receptor deficiency is an autosomal recessive disorder caused by mutations in one of the components of the receptor. Clinical presentation is an inflamatory bowel disease.

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
		IL10RA
		IL10RB
		Inflammatory bowel disease 25
			IL10RB
		Inflammatory bowel disease 28
			IL10RA
	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.	Glocker EO et. al. (2009) Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.

2.	Mao H et. al. (2012) Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease.

3.	Gasche C et. al. (2003) Novel variants of the IL-10 receptor 1 affect inhibition of monocyte TNF-alpha production.

4.	Tan JC et. al. (1993) Characterization of interleukin-10 receptors on human and mouse cells.

5.	Ho AS et. al. (1993) A receptor for interleukin 10 is related to interferon receptors.

6.	Liu Y et. al. (1994) Expression cloning and characterization of a human IL-10 receptor.

7.	Taniyama T et. al. (1995) The human interleukin-10 receptor gene maps to chromosome 11q23.3.

8.	Zigmond E et. al. (2014) Macrophage-restricted interleukin-10 receptor deficiency, but not IL-10 deficiency, causes severe spontaneous colitis.

9.	Begue B et. al. (2011) Defective IL10 signaling defining a subgroup of patients with inflammatory bowel disease.

10.	Lutfalla G et. al. (1993) A new member of the cytokine receptor gene family maps on chromosome 21 at less than 35 kb from IFNAR.

11.	Frodsham AJ et. al. (2006) Class II cytokine receptor gene cluster is a major locus for hepatitis B persistence.

12.	Sheikh F et. al. (2004) Cutting edge: IL-26 signals through a novel receptor complex composed of IL-20 receptor 1 and IL-10 receptor 2.

13.	Sheppard P et. al. (2003) IL-28, IL-29 and their class II cytokine receptor IL-28R.

14.	Spencer SD et. al. (1998) The orphan receptor CRF2-4 is an essential subunit of the interleukin 10 receptor.

15.	Kotenko SV et. al. (1997) Identification and functional characterization of a second chain of the interleukin-10 receptor complex.

16.	Gibbs VC et. al. (1997) CRF2-4: isolation of cDNA clones encoding the human and mouse proteins.

17.	Cheng S et. al. (1993) GART, SON, IFNAR, and CRF2-4 genes cluster on human chromosome 21 and mouse chromosome 16.

Update: Aug. 14, 2020

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