p14 deficiency

p14 deficiency resembles known lysosomal diseases associating partial albinism and immunodeficiency, such as Chediak-Higashi syndrome (LYST deficiency), Griscelli syndrome type 2 (RABD27A deficiency) or Hermansky-Pudlak syndrome type 2 (HPS2, AP3B1 deficiency). The point mutation of p14 leads to decreased RNA stability, decreased protein levels and aberrant lysosomal function.

Alternative names

p14D

MAPBPIP deficiency

Classification

  • Defects of phagocyte function
    • Disorders of pigmentation and immunodeficiency

Inheritance

OMIM

#610798 Immunodeficiency due to defect in MAPBPIP-interacting protein

*610389 MAPBPIP-interacting protein (MAPBPIP)

Cross references

Phenotypically related immunodeficiencies

IDR factfile for Chediak-Higashi syndrome

IDR factfile for Griscelli syndrome, type 2

Incidence

Incidence is not known.