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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.