MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Combined immunodeficiency due to GINS1 deficiency

ORPHA:505227Заболевание
Autosomal recessive

Combined immunodeficiency due to HELIOS deficiency

ORPHA:697389Заболевание
Autosomal dominant, Autosomal recessive

Combined immunodeficiency due to IKBKB deficiency

ORPHA:397787Заболевание
Autosomal recessive

Combined immunodeficiency due to IKBKB gain-of-function mutation

ORPHA:700205Заболевание
Autosomal dominant

Combined immunodeficiency due to IL21R deficiency

ORPHA:357329Заболевание
Autosomal recessive

Combined immunodeficiency due to ITK deficiency

ORPHA:538963Заболевание
Autosomal recessive

Combined immunodeficiency due to LCK deficiency

ORPHA:280142Заболевание
Autosomal recessive

Combined immunodeficiency due to MALT1 deficiency

ORPHA:397964Заболевание
Autosomal recessive

Combined immunodeficiency due to Moesin deficiency

ORPHA:504530Заболевание
X-linked recessive

Combined immunodeficiency due to ORAI1 deficiency

ORPHA:317428Клин. подтип
Autosomal recessive

Combined immunodeficiency due to OX40 deficiency

ORPHA:431149Заболевание
Autosomal recessive

Combined immunodeficiency due to RELA haploinsufficiency

ORPHA:596759Заболевание
Autosomal dominant

Combined immunodeficiency due to RELB deficiency

ORPHA:688594Заболевание
Autosomal recessive

Combined immunodeficiency due to STIM1 deficiency

ORPHA:317430Клин. подтип
Autosomal recessive

Combined immunodeficiency due to STK4 deficiency

ORPHA:314689Заболевание
Autosomal recessive

Combined immunodeficiency due to TBX1 deficiency

ORPHA:685017Заболевание
Autosomal dominant

Combined immunodeficiency due to TFRC deficiency

ORPHA:476113Заболевание
Autosomal recessive

Combined immunodeficiency due to ZAP70 deficiency

ORPHA:911Заболевание
Autosomal recessive

Combined immunodeficiency due to c-REL deficiency

ORPHA:697394Заболевание
Autosomal recessive

Combined immunodeficiency due to dimerization defective IKAROS mutation

ORPHA:695172Заболевание
Autosomal dominant

Combined immunodeficiency due to partial RAG1 deficiency

ORPHA:231154Заболевание
Autosomal recessive

Combined immunodeficiency with facio-oculo-skeletal anomalies

ORPHA:221139Заболевание
Multigenic/multifactorial

Combined immunodeficiency with granulomatosis

ORPHA:157949Заболевание
Autosomal recessive

Combined immunodeficiency with low Ig due to BCL10 deficiency

ORPHA:699578Заболевание
Autosomal recessive