MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Combined immunodeficiency due to GINS1 deficiency

ORPHA:505227Ауру
Autosomal recessive

Combined immunodeficiency due to HELIOS deficiency

ORPHA:697389Ауру
Autosomal dominant, Autosomal recessive

Combined immunodeficiency due to IKBKB deficiency

ORPHA:397787Ауру
Autosomal recessive

Combined immunodeficiency due to IKBKB gain-of-function mutation

ORPHA:700205Ауру
Autosomal dominant

Combined immunodeficiency due to IL21R deficiency

ORPHA:357329Ауру
Autosomal recessive

Combined immunodeficiency due to ITK deficiency

ORPHA:538963Ауру
Autosomal recessive

Combined immunodeficiency due to LCK deficiency

ORPHA:280142Ауру
Autosomal recessive

Combined immunodeficiency due to MALT1 deficiency

ORPHA:397964Ауру
Autosomal recessive

Combined immunodeficiency due to Moesin deficiency

ORPHA:504530Ауру
X-linked recessive

Combined immunodeficiency due to ORAI1 deficiency

ORPHA:317428Клин. под.
Autosomal recessive

Combined immunodeficiency due to OX40 deficiency

ORPHA:431149Ауру
Autosomal recessive

Combined immunodeficiency due to RELA haploinsufficiency

ORPHA:596759Ауру
Autosomal dominant

Combined immunodeficiency due to RELB deficiency

ORPHA:688594Ауру
Autosomal recessive

Combined immunodeficiency due to STIM1 deficiency

ORPHA:317430Клин. под.
Autosomal recessive

Combined immunodeficiency due to STK4 deficiency

ORPHA:314689Ауру
Autosomal recessive

Combined immunodeficiency due to TBX1 deficiency

ORPHA:685017Ауру
Autosomal dominant

Combined immunodeficiency due to TFRC deficiency

ORPHA:476113Ауру
Autosomal recessive

Combined immunodeficiency due to ZAP70 deficiency

ORPHA:911Ауру
Autosomal recessive

Combined immunodeficiency due to c-REL deficiency

ORPHA:697394Ауру
Autosomal recessive

Combined immunodeficiency due to dimerization defective IKAROS mutation

ORPHA:695172Ауру
Autosomal dominant

Combined immunodeficiency due to partial RAG1 deficiency

ORPHA:231154Ауру
Autosomal recessive

Combined immunodeficiency with facio-oculo-skeletal anomalies

ORPHA:221139Ауру
Multigenic/multifactorial

Combined immunodeficiency with granulomatosis

ORPHA:157949Ауру
Autosomal recessive

Combined immunodeficiency with low Ig due to BCL10 deficiency

ORPHA:699578Ауру
Autosomal recessive