Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Interferonopathie

Interferonopathien sind Erkrankungen des der Interferon-vermittelten Signalkaskade. Solche Erkrankungen manifestieren sich vor allem in einer gestörten Infektabwehr aber auch in Autoinflammatorischen Erkrankungen und verschiedenen Dysmorphien.

Gliederung

Erbliche immunologische Erkrankungen
Atopie
Autoimmunerkrankungen
Autoinflammatorische Erkrankungen
Chediak-Higashi-Syndrom
Erbliche Complementstörungen
Griscelli-Syndrom Typ 2
Interferonopathie
Aicardi-Goutières-Syndrom
Aicardi-Goutières-Syndrom 1
TREX1
Aicardi-Goutières-Syndrom 2
RNASEH2B
Aicardi-Goutières-Syndrom 3
RNASEH2C
Aicardi-Goutières-Syndrom 4
RNASEH2A
Aicardi-Goutières-Syndrom 5
SAMHD1
Aicardi-Goutières-Syndrom 6
ADAR
Aicardi-Goutières-Syndrom 7
IFIH1
Immundefekt 38
ISG15
Pseudo-TORCH-Syndrom 2
USP18
Retinale Vaskulopathie mit zerebraler Leukoenzephalopathie und systemischen Manifestationen
TREX1
Singleton-Merten-Syndrom
Singleton-Merten-Syndrom 1
IFIH1
Singleton-Merten-Syndrom 2
DDX58
Spondyloenchondrodysplasie mit Immundysregulation
ACP5
Trichohepatoenterisches Syndrom 2
SKIV2L
familiärer Chilblain-Lupus
familiärer Chilblain-Lupus 1
TREX1
familiärer Chilblain-Lupus 2
SAMHD1
Neigung zu Asthma bronchiale
Neigung zu allergischer Rhinitis
Primärer Immundefekt
Schutz vor Graft-versus-host-disease
Störungen der Immunglobulinbildung

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2.

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Update: 17. Oktober 2019