Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency
ORPHA:90023· ICD-10 D82.8
Definition
Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal