Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Combined immunodeficiency due to GINS1 deficiency
Autosomal recessive
Antenatal, Neonatal
Combined immunodeficiency due to HELIOS deficiency
Autosomal dominant, Autosomal recessive
Combined immunodeficiency due to IKBKB deficiency
Autosomal recessive
Infancy
Combined immunodeficiency due to IKBKB gain-of-function mutation
Autosomal dominant
Combined immunodeficiency due to IL21R deficiency
Autosomal recessive
Infancy, Neonatal
Combined immunodeficiency due to ITK deficiency
Autosomal recessive
Adolescent, Childhood
Combined immunodeficiency due to LCK deficiency
Autosomal recessive
Infancy, Neonatal
Combined immunodeficiency due to MALT1 deficiency
Autosomal recessive
Infancy
Combined immunodeficiency due to Moesin deficiency
X-linked recessive
Childhood
Combined immunodeficiency due to ORAI1 deficiency
Autosomal recessive
Infancy, Neonatal
Combined immunodeficiency due to OX40 deficiency
Autosomal recessive
Childhood
Combined immunodeficiency due to RELA haploinsufficiency
Autosomal dominant
Childhood
Combined immunodeficiency due to RELB deficiency
Autosomal recessive
Infancy
Combined immunodeficiency due to STIM1 deficiency
Autosomal recessive
Infancy, Neonatal
Combined immunodeficiency due to STK4 deficiency
Autosomal recessive
Childhood
Combined immunodeficiency due to TBX1 deficiency
Autosomal dominant
Infancy, Neonatal
Combined immunodeficiency due to TFRC deficiency
Autosomal recessive
Childhood, Infancy
Combined immunodeficiency due to ZAP70 deficiency
Autosomal recessive
Childhood
Combined immunodeficiency due to c-REL deficiency
Autosomal recessive
Combined immunodeficiency due to dimerization defective IKAROS mutation
Autosomal dominant
Combined immunodeficiency due to partial RAG1 deficiency
Autosomal recessive
Infancy, Neonatal
Combined immunodeficiency with facio-oculo-skeletal anomalies
Multigenic/multifactorial
Neonatal
Combined immunodeficiency with granulomatosis
Autosomal recessive
Combined immunodeficiency with low Ig due to BCL10 deficiency
Autosomal recessive