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

17 Oct 2013

Abstract excerpt

Hypopigmentation disorders that are associated with immunodeficiency feature both partial albinism of hair, skin and eyes together with leukocyte defects. These disorders include Chediak Higashi (CHS), Griscelli (GS), Hermansky-Pudlak (HPS) and MAPBP-interacting protein deficiency syndromes. These are heterogeneous autosomal recessive conditions in which the causal genes encode proteins with specific roles in the...

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PMID: 24134793
DOI: 10.1186/1750-1172-8-168

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