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

Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency

Autosomal dominant

Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency

Autosomal dominant

Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency

Autosomal recessive

Infancy

Combined immunodeficiency-multiple intestinal atresia

Autosomal recessive

Neonatal

Combined malonic and methylmalonic acidemia

Autosomal dominant, Autosomal recessive

All ages

Combined oxidative phosphorylation defect type 11

Autosomal recessive

Infancy, Neonatal

Combined oxidative phosphorylation defect type 13

Autosomal recessive

Infancy

Combined oxidative phosphorylation defect type 14

Autosomal recessive

Infancy, Neonatal

Combined oxidative phosphorylation defect type 15

Autosomal recessive

Childhood, Infancy

Combined oxidative phosphorylation defect type 17

Autosomal recessive

Infancy, Neonatal

Combined oxidative phosphorylation defect type 2

Autosomal recessive

Neonatal

Combined oxidative phosphorylation defect type 20

Autosomal recessive

Infancy

Combined oxidative phosphorylation defect type 21

Autosomal recessive

Neonatal

Combined oxidative phosphorylation defect type 23

Autosomal recessive

Childhood, Infancy, Neonatal

Combined oxidative phosphorylation defect type 24

Autosomal recessive

Infancy

Combined oxidative phosphorylation defect type 25

Autosomal recessive

Neonatal

Combined oxidative phosphorylation defect type 26

Autosomal recessive

Childhood, Infancy

Combined oxidative phosphorylation defect type 27

Autosomal recessive

Childhood, Infancy

Combined oxidative phosphorylation defect type 29

Autosomal recessive

Infancy