ORPHA:90023

Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency

Also called Primary immunodeficiency syndrome due to LAMTOR2 deficiency, Primary immunodeficiency syndrome due to P14 deficiency, Primary immunodeficiency syndrome due to P14/Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 deficiency

Body system

Immunological diseases

Inheritance pattern

Autosomal recessive

Typical age of onset

Infancy, Neonatal

Estimated prevalence

<1 / 1 000 000 (Worldwide)

Rarity class

<1 / 1 000 000

ORPHA:90023 is classified under "Immunological diseases" in the Orphanet nomenclature.