primary immunodeficiency syndrome due to p14 deficiency

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Disease Overview

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


Synonyms

  • immunodeficiency due to defect in MAPBP-interacting PROTEIN
  • immunodeficiency due to defect in Mapbp-interacting Protein
  • primary immunodeficiency syndrome due to LAMTOR2 deficiency
  • primary immunodeficiency syndrome with short statureimmunodeficiency due to defect in MAPBP-interacting PROTEIN
  • immunodeficiency due to defect in Mapbp-interacting Protein
  • primary immunodeficiency syndrome due to LAMTOR2 deficiency
  • primary immunodeficiency syndrome with short stature