Primary immunodeficiency syndrome due to p14 deficiency
Primary immunodeficiency syndrome due to p14 deficiency
Definition
Primary immunodeficiency syndrome due to p14 deficiency is characterized by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.
Also known as primary immunodeficiency syndrome due to LAMTOR2 deficiency, primary immunodeficiency syndrome with short stature — per MONDO