MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
3,968 Erkrankungen gefunden (Kr.) Zurücksetzen

Combined immunodeficiency due to CD3gamma deficiency

ORPHA:169082Kr.
Autosomal recessive

Combined immunodeficiency due to COPG1 deficiency

ORPHA:718017Kr.
Autosomal recessive

Combined immunodeficiency due to CRAC channel dysfunction

ORPHA:169090Kr.
Autosomal recessive

Combined immunodeficiency due to DOCK2 deficiency

ORPHA:447737Kr.
Autosomal recessive

Combined immunodeficiency due to DOCK8 deficiency

ORPHA:217390Kr.
Autosomal recessive

Combined immunodeficiency due to FCHO1 deficiency

ORPHA:647804Kr.
Autosomal recessive

Combined immunodeficiency due to FOXN1 haploinsufficiency

ORPHA:676039Kr.
Autosomal dominant

Combined immunodeficiency due to GINS1 deficiency

ORPHA:505227Kr.
Autosomal recessive

Combined immunodeficiency due to HELIOS deficiency

ORPHA:697389Kr.
Autosomal dominant, Autosomal recessive

Combined immunodeficiency due to IKBKB deficiency

ORPHA:397787Kr.
Autosomal recessive

Combined immunodeficiency due to IKBKB gain-of-function mutation

ORPHA:700205Kr.
Autosomal dominant

Combined immunodeficiency due to IL21R deficiency

ORPHA:357329Kr.
Autosomal recessive

Combined immunodeficiency due to ITK deficiency

ORPHA:538963Kr.
Autosomal recessive

Combined immunodeficiency due to LCK deficiency

ORPHA:280142Kr.
Autosomal recessive

Combined immunodeficiency due to MALT1 deficiency

ORPHA:397964Kr.
Autosomal recessive

Combined immunodeficiency due to Moesin deficiency

ORPHA:504530Kr.
X-linked recessive

Combined immunodeficiency due to OX40 deficiency

ORPHA:431149Kr.
Autosomal recessive

Combined immunodeficiency due to RELA haploinsufficiency

ORPHA:596759Kr.
Autosomal dominant

Combined immunodeficiency due to RELB deficiency

ORPHA:688594Kr.
Autosomal recessive

Combined immunodeficiency due to STK4 deficiency

ORPHA:314689Kr.
Autosomal recessive

Combined immunodeficiency due to TBX1 deficiency

ORPHA:685017Kr.
Autosomal dominant

Combined immunodeficiency due to TFRC deficiency

ORPHA:476113Kr.
Autosomal recessive

Combined immunodeficiency due to ZAP70 deficiency

ORPHA:911Kr.
Autosomal recessive

Combined immunodeficiency due to c-REL deficiency

ORPHA:697394Kr.
Autosomal recessive