/primary immunodeficiency syndrome due to p14 deficiency

primary immunodeficiency syndrome due to p14 deficiency

Rare Disease

MONDO:0012559

Also Known As

primary immunodeficiency syndrome due to LAMTOR2 deficiencyprimary immunodeficiency syndrome with short statureimmunodeficiency due to defect in MAPBP-interacting PROTEINimmunodeficiency due to defect in Mapbp-interacting Protein

Definition

Primary immunodeficiency syndrome due to p14 deficiency is characterized by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.