Author/Authors :
Farhoudi, Abolhasan Department of Immunology and Allergy - Children’s Hospital Medical Center - Tehran University of Medical Sciences , Chavoshzadeh, Zahra Department of Immunology and Allergy - Children’s Hospital Medical Center - Tehran University of Medical Sciences , Pourpak, Zahra Department of Immunology and Allergy - Children’s Hospital Medical Center - Tehran University of Medical Sciences , Izadyar, Mina Department of Immunology and Allergy - Children’s Hospital Medical Center - Tehran University of Medical Sciences , Gharagozlou, Mohammad Department of Immunology and Allergy - Children’s Hospital Medical Center - Tehran University of Medical Sciences , Movahedi, Masoud Department of Immunology and Allergy - Children’s Hospital Medical Center - Tehran University of Medical Sciences , Aghamohamadi, Asghar Department of Immunology and Allergy - Children’s Hospital Medical Center - Tehran University of Medical Sciences , Mir saeid Ghazi, Bahram Department of Immunology and Allergy - Children’s Hospital Medical Center - Tehran University of Medical Sciences , Moin, Mostafa Department of Immunology and Allergy - Children’s Hospital Medical Center - Tehran University of Medical Sciences , Rezaei, Nima Department of Immunology and Allergy - Children’s Hospital Medical Center - Tehran University of Medical Sciences
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&LRT) infections, stomatitis, thrush, and skin abscesses and hepatitis. In laboratory findings, all patients had neutropenia and normal immunoglobulins and normal CD3, CD4, CD8and CD 19 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.
