MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

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 ORAI1 deficiency

ORPHA:317428Kl. subt.
Autosomal 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 STIM1 deficiency

ORPHA:317430Kl. subt.
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

Combined immunodeficiency due to dimerization defective IKAROS mutation

ORPHA:695172Kr.
Autosomal dominant

Combined immunodeficiency due to partial RAG1 deficiency

ORPHA:231154Kr.
Autosomal recessive

Combined immunodeficiency with facio-oculo-skeletal anomalies

ORPHA:221139Kr.
Multigenic/multifactorial

Combined immunodeficiency with granulomatosis

ORPHA:157949Kr.
Autosomal recessive

Combined immunodeficiency with low Ig due to BCL10 deficiency

ORPHA:699578Kr.
Autosomal recessive