Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Interleukin 10-Rezeptor-Mangel

Der Interleukin 10-Rezeptor-Mangel ist eine autosomal rezessive Erkrankung. Sie wird durch Mutationen in einer der beiden Komponenten des Rezeptors hervorgerufen und manifestiert sich vor allem in entzündlichen Darmerkrankungen.

Gliederung

Autoinflammatorische Erkrankungen
Autoinflammation mit Arthritis und Dyskeratose
Autoinflammation, Antikörpermangel und Immundysregulations-Syndrom
Autoinflammatorisches periodisches Fieber mit Immundefizit und Thrombozytopenie
Cherubismus
Cryopyrin-assoziiertes periodisches Fieber-Syndrom
Familiäres Mittelmeerfieber
Familiäres kälteinduziertes autoinflammatorisches Syndrom
Hereditäre Behçet-ähnliche Krankheit des Kindes
Interleukin 1-Rezeptorantagonist-Mangel
Interleukin 10-Mangel
Interleukin 10-Rezeptor-Mangel
Entzündliche Darmerkrankung 25
IL10RB
Entzündliche Darmerkrankung 28
IL10RA
IL10RA
IL10RB
Kongenitale sideroblastische Anämie-B-Zell-Immundefekt-periodisches Fieber-Entwicklungsverzögerungs-Syndrom
Majeed-Syndrom
Mevalonat-Kinase assoziierte entzündliche Erkrankungen
Neigung zu maligner Hyperthermie 5
Periodisches Fieber mit Beginn im Kindesalter-Pannikulitis-Dermatose-Syndrom
Periodisches Fieber-infantile Enterocolitis-autoinflammatorisches Syndrom
Proteasom-assoziiertes Autoinflammations-Syndrom
Pyogene Arthritis - Pyoderma gangraenosum - Akne - Syndrom
Rheumatoide Arthritis-Progression
STING-assoziierte Vaskulopathie mit Beginn in der Kindheit
Systemische idiopathische juvenile Arthritis
TNF-Rezeptor-assoziiertes periodisches Fieber-Syndrom
Vaskulitis durch ADA2-Mangel
Veranlagung für entzündliche Darmerkrankungen

Referenzen:

1.

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.

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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.

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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Update: 8. Mai 2019