MEDLIB
База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Combined immunodeficiency due to GINS1 deficiency

ORPHA:505227Disease
Autosomal recessive

Combined immunodeficiency due to HELIOS deficiency

ORPHA:697389Disease
Autosomal dominant, Autosomal recessive

Combined immunodeficiency due to IKBKB deficiency

ORPHA:397787Disease
Autosomal recessive

Combined immunodeficiency due to IKBKB gain-of-function mutation

ORPHA:700205Disease
Autosomal dominant

Combined immunodeficiency due to IL21R deficiency

ORPHA:357329Disease
Autosomal recessive

Combined immunodeficiency due to ITK deficiency

ORPHA:538963Disease
Autosomal recessive

Combined immunodeficiency due to LCK deficiency

ORPHA:280142Disease
Autosomal recessive

Combined immunodeficiency due to MALT1 deficiency

ORPHA:397964Disease
Autosomal recessive

Combined immunodeficiency due to Moesin deficiency

ORPHA:504530Disease
X-linked recessive

Combined immunodeficiency due to ORAI1 deficiency

ORPHA:317428Clin. sub.
Autosomal recessive

Combined immunodeficiency due to OX40 deficiency

ORPHA:431149Disease
Autosomal recessive

Combined immunodeficiency due to RELA haploinsufficiency

ORPHA:596759Disease
Autosomal dominant

Combined immunodeficiency due to RELB deficiency

ORPHA:688594Disease
Autosomal recessive

Combined immunodeficiency due to STIM1 deficiency

ORPHA:317430Clin. sub.
Autosomal recessive

Combined immunodeficiency due to STK4 deficiency

ORPHA:314689Disease
Autosomal recessive

Combined immunodeficiency due to TBX1 deficiency

ORPHA:685017Disease
Autosomal dominant

Combined immunodeficiency due to TFRC deficiency

ORPHA:476113Disease
Autosomal recessive

Combined immunodeficiency due to ZAP70 deficiency

ORPHA:911Disease
Autosomal recessive

Combined immunodeficiency due to c-REL deficiency

ORPHA:697394Disease
Autosomal recessive

Combined immunodeficiency due to dimerization defective IKAROS mutation

ORPHA:695172Disease
Autosomal dominant

Combined immunodeficiency due to partial RAG1 deficiency

ORPHA:231154Disease
Autosomal recessive

Combined immunodeficiency with facio-oculo-skeletal anomalies

ORPHA:221139Disease
Multigenic/multifactorial

Combined immunodeficiency with granulomatosis

ORPHA:157949Disease
Autosomal recessive

Combined immunodeficiency with low Ig due to BCL10 deficiency

ORPHA:699578Disease
Autosomal recessive