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

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Dotta, Laura ^a   Parolini, Silvia ^a   Prandini, Alberto ^a   Tabellini, Giovanna ^a   Antolini, Maddalena ^a   Kingsmore, Stephen F ^b   Badolato, Raffaele ^a  

^a UNIVERSITY OF BRESCIA   (Italy)

^b CHILDREN S MERCY HOSPITAL   (United States)

Author keywords

Hemophagocytosis; Natural killer cells; Partial albinism; Primary immunodeficiency

Indexed keywords

GRANULOCYTE COLONY STIMULATING FACTOR; GRANZYME; IMMUNOGLOBULIN M; MAPBP INTERACTING PROTEIN; MELANIN; MELANOPHILIN; MESSENGER RNA; MITOGEN ACTIVATED PROTEIN KINASE; PERFORIN; PROTEIN; SNARE PROTEIN; SULFAPERIN; T LYMPHOCYTE RECEPTOR; UNCLASSIFIED DRUG;

ANTIGEN PRESENTATION; BACTERICIDAL ACTIVITY; BLEEDING TENDENCY; BLOOD CELL COUNT; CHEDIAK HIGASHI SYNDROME; CHROMOSOME 1Q; CLINICAL FEATURE; CYTOTOXICITY; DELAYED HYPERSENSITIVITY; ENZYME PHOSPHORYLATION; FEVER; GENE MUTATION; GRISCELLI SYNDROME; HEMOPHAGOCYTIC SYNDROME; HEPATOSPLENOMEGALY; HYPOPIGMENTATION; IMMUNE DEFICIENCY; LYMPHADENOPATHY; LYMPHOCYTE; LYSOSOME; MOLECULAR GENETICS; NATURAL KILLER CELL; NEUTROPENIA; NYSTAGMUS; OCULAR ALBINISM; OCULOCUTANEOUS ALBINISM; PHENOTYPE; PIEBALDISM; POINT MUTATION; REVIEW; SHORT STATURE; THROMBOCYTE COUNT;

ALBINISM; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; KILLER CELLS, NATURAL;

EID: 84885491694     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-168     Document Type: Review

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