title: Report of six cases of chediak-higashi syndrome with regard to clinical and laboratory findings.
abstract: Chediak - Higashi Syndrome (CHS) is a rare, primary Immunodeficiency disorder with an autosomal recessive (AR) inheritance and characterized by recurrent infection, partial occulocutaneous albinism and an accelerated phase.In this report we describe clinical and laboratory findings from 6 CHS patients. Clinical and laboratory information of six patients who were referred to our center during the last 20 years (from 1983 - 2003) were reviewed.Onset age of disease was between 3 months to 10 years. All patients had history of consanguineous parents and two patients were siblings. All patients had oculocutaneous albinism, nystagmus, recurrent infections which included upper and lower respiratory tract (U and LRT) infections, stomatitis, thrush, and skin abscesses and hepatitis. In laboratory findings, all patients had neutropenia and normal immunoglobulins and normal CD3, CD4, CD8 and CD19 lymphocyte by flowcytometry and three of the four patients had chemotatic defect. Five patients certainly had giant granule in bone marrow neutrophil and in one patient it was equiovocal. Three patients had an accelerated phase, and for one patient bone marrow transplantation was done that was tolerated well and had been well after 7 years.We emphasize the need for early diagnosis on basis of characteristic facies and diagnostic laboratory examinations and early bone marrow transplantation (BMT) in patients.
authors.affiliation: Department of Immunology and Allergy, Children’s Hospital Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Abolhasan
authors.initials: A
authors.lastname: Farhoudi
authors.forename: Zahra
authors.initials: Z
authors.lastname: Chavoshzadeh
authors.forename: Zahra
authors.initials: Z
authors.lastname: Pourpak
authors.forename: Mina
authors.initials: M
authors.lastname: Izadyar
authors.forename: Mohammad
authors.initials: M
authors.lastname: Gharagozlou
authors.forename: Masoud
authors.initials: M
authors.lastname: Movahedi
authors.forename: Asghar
authors.initials: A
authors.lastname: Aghamohamadi
authors.forename: Bahram
authors.initials: B
authors.lastname: Mirsaeid Ghazi
authors.forename: Mostafa
authors.initials: M
authors.lastname: Moin
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei