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Table 1 Primary Immunodeficiencies that associated with oculocutaneous albinism

From: Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism

  Locus Oculocutaneous albinism Bleeding disorders Short stature Neurological symptoms HLH Neutropenia NKs defects CTLs defects Giant granules
CHS CHS1 + + - + + +/-* + + +
GS2 RAB27A + - - - + +/-* + + -
HPS2 ADTB3A + + - - + + + + -
HPS9 PLDN + - - - - - + N/A -
MAPBPIP deficiency LAMTOR2 + - + - - + + + -
  1. *Transient neutropenia can be observed.
  2. CHS Chediak-Higashi syndrome; GS2 Griscelli syndrome type 2; HPS-2 Hermanski-Pudlak syndrome-type 2; HLH hemophagocytic lymphohistiocytosis.