Congenital generalized hypomelanosis and immunodeficiency in a black child

Pediatric Dermatology

Volumn 24, Issue 2, 2007, Pages 182-185

  Maari, Catherine H ^b   Eichenfield, Lawrence F ^a  

^a Pediatric and Adolescent Dermatology   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ANTINUCLEAR ANTIBODY;

ADENOIDECTOMY; ARTICLE; BONE MARROW BIOPSY; CASE REPORT; CELL VACUOLE; CHEDIAK HIGASHI SYNDROME; DERMATOLOGY; EAR INFECTION; ELECTRON MICROSCOPY; FEMALE; HUMAN; HUMAN TISSUE; HYPOMELANOSIS; IMMUNE DEFICIENCY; NEUROLOGIC EXAMINATION; NEUTROPENIA; NONHUMAN; OTITIS MEDIA; PEDIATRIC HOSPITAL; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SINUSITIS; SKIN BIOPSY; STREPTOCOCCUS PNEUMONIAE; TONSILLECTOMY; TYMPANOSTOMY TUBE;

AFRICAN AMERICANS; CHEDIAK-HIGASHI SYNDROME; CHILD, PRESCHOOL; FEMALE; HUMANS; VESICULAR TRANSPORT PROTEINS;

EID: 33947676305     PISSN: 07368046     EISSN: 15251470     Source Type: Journal    
DOI: 10.1111/j.1525-1470.2007.00371.x     Document Type: Article

References (19)

1. Barak Y, Nir C. Chediak-Higashi syndrome. Am J Pediatr Hematol Oncol 1987;9:42-55.
2. Huizing M, Anikster Y, Gahl WA. Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking. Thromb Haemost 2001;86:233-245.
3. Karim MA, Suzuki K, Fukai K et al. Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. Am J Med Genet 2002;108:16-22.
4. Karim MA, Nagle DL, Kandil HH et al. Mutations in the Chediak-Higashi syndrome (CHS1) indicate requirement for the complete 3801 amino acid CHS protein. Hum Mol Genet 1997;6:1087-1089.
5. Introne W, Boissy RE, Gahl WA. Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome. Mol Genet Metab 1999;68:283-303.
6. Zeleckson AS, Windhorst DB, White JG et al. The Chediak-Higashi syndrome; formation of giant melanosomes and the basis of hypopigmentation. J Invest Dermatol 1967;49:575-581.
7. Baetz K, Isaaz S, Griffiths GM. Loss of cytotoxic T lymphocyte function in Chediak-Higashi syndrome arises from a secretory defect that prevents lytic granule exocytosis. J Immunol 1995;154:6122-6133.
8. Abo T, Roder JC, Abo Wet al. Natural killer (HNK-1+) cells in Chediak-Higashi patients are present in normal numbers but are abnormal in function and morphology. J Clin Invest 1982;70:193-197.
9. Klein M, Roder J, Haliotis T et al. Chediak-Higashi gene in humans. II. The selectivity of the defect in natural-killer and antibody-dependent cell-mediated cytotoxic function. J Exp Med 1980;151:1049-1058.
10. Creel K, Boxer LA, Fauci AS. Visual and auditory anomalies in Chediak-Higashi syndrome: formation of giant melanosomes and the basis of hypopigmentation. J Invest Dermatol 1967;40:575-581.
11. Stegmaier OC, Schneider LA. Chediak-Higashi syndrome: dermatologic manifestations. Arch Dermatol 1965;91:1-10.
12. Pettit RE, Berbal KG. Chediak-Higashi syndrome: neurologic appearance. Arch Neurol 1984;41:1001-1002.
13. Blume RS, Wolf SM. Chediak-Higashi syndrome: studies in four patients and a review of the literature. Medicine 1972;51:247-280.
14. Bell TG, Meyers KM, Prieur DJ et al. Decreased nucleotide and serotonin storage associated with defective function in Chediak-Higashi syndrome cattle and human platelets. Blood 1976;48:175-184.
15. Buchanan GB, Handin RI. Platelet function in the Chediak-Higashi syndrome. Blood 1976;47:941.
16. Rubin CM, Burke BA, McKenna RW et al. The accelerated phase of Chediak-Higashi syndrome: an expression of the virus-associated hemophagocytic syndrome? Cancer 1985;56:524-530.
17. Boxer GJ, Holmsen H, Robkin L et al. Abnormal platelet functions in Chediak-Higashi syndrome. Br J Haematol 1977;35:521-533.
18. Kazmierowski JA, Elin RJ Reynolds HY et al. Chediak-Higashi syndrome: reversal of increased susceptibility to infection by bone marrow transplantation. Blood 1976;47:555-559.
19. Haddad EH, Le Deist F, Blanche S et al. Treatment of Chediak-Higashi syndrome by allogenic bone marrow transplantation: Report of 10 cases. Blood 1995;85:3328-3333.