Article
Partial albinism with immunodeficiency (Griscelli syndrome).
The Journal of pediatrics - 1 Dec 1994
Klein C, Philippe N, Le Deist F, Fraitag S, Prost C, Durandy A, Fischer A, Griscelli C
Abstract excerpt
Partial albinism with immunodeficiency is a rare and fatal immunologic disorder characterized by pigmentary dilution and variable cellular immunodeficiency. To define the phenotype, therapy, and outcome, we retrospectively analyzed seven consecutive patients. Primary abnormalities included a silv...
Topics
- Adrenal Cortex Hormones
- Albinism
- Bone Marrow Transplantation
- Central Nervous System Diseases
- Child, Preschool
- Combined Modality Therapy
- Female
- Follow-Up Studies
- Humans
- Hypersensitivity, Delayed
- Immunity, Cellular
- Immunologic Deficiency Syndromes
- Immunosuppression Therapy
- Infant
- Infections
- Killer Cells, Natural
- Male
- Phenotype