People with Chédiak-Higashi syndrome usually have pale skin, light-colored or white hair, and pink or pale blue-gray eyes.
Doctors examine a sample of blood to check for abnormalities and do genetic tests to confirm the diagnosis.
Treatment involves antibiotics to prevent infections, other drugs to help the immune system function better, and, if possible, stem cell transplantation.
(See also Overview of Immunodeficiency Disorders Overview of Immunodeficiency Disorders Immunodeficiency disorders involve malfunction of the immune system, resulting in infections that develop and recur more frequently, are more severe, and last longer than usual. Immunodeficiency... read more .)
Chédiak-Higashi syndrome is a primary immunodeficiency disorder Primary immunodeficiency Immunodeficiency disorders involve malfunction of the immune system, resulting in infections that develop and recur more frequently, are more severe, and last longer than usual. Immunodeficiency... read more . It is usually inherited as an autosomal (not sex-linked) recessive Inheritance of Single-Gene Disorders Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or code for functional RNA molecules.... read more disorder. That is, two genes for the disorder, one from each parent, are required.
People with Chédiak-Higashi syndrome are more susceptible to infections because phagocytes (types of white blood cells Components of the Immune System The immune system is designed to defend the body against foreign or dangerous invaders. Such invaders include Microorganisms (commonly called germs, such as bacteria, viruses, and fungi) Parasites... read more , including neutrophils, eosinophils, monocytes, and macrophages) do not function normally. Phagocytes are cells that ingest and kill microorganisms.
Symptoms of Chédiak-Higashi Syndrome
In Chédiak-Higashi syndrome, little or none of the pigment melanin is formed (called albinism Albinism Albinism is a rare hereditary disorder in which little or none of the skin pigment melanin is formed. The skin, hair, and eyes, or sometimes just the eyes, are affected. Typically, the hair... read more 
). Melanin gives skin, eyes, and hair their color. Typically, the skin is pale, the hair is light-colored or white, and the eyes may be pink or pale blue-gray.
The disorder may also cause vision problems. For example, the sharpness of vision (acuity) may be reduced, and the eyes may be sensitive to light (photosensitivity). Nystagmus, which causes blurred vision, is common. In nystagmus, the eyes repeatedly move rapidly in one direction, then drift slowly back to their original position.
Chédiak-Higashi syndrome also commonly causes mouth sores, gingivitis, and periodontal disease.
People with Chédiak-Higashi syndrome also have many infections. The infections usually involve the respiratory tract, skin, and membranes lining the mouth.
In about 80% of people, Chédiak-Higashi syndrome progresses, causing fever, jaundice Jaundice in Adults In jaundice, the skin and whites of the eyes look yellow. Jaundice occurs when there is too much bilirubin (a yellow pigment) in the blood—a condition called hyperbilirubinemia. (See also Overview... read more 
(a yellow color of the skin and eyes), an enlarged liver and spleen, swollen lymph glands, and a tendency to bleed and bruise easily. The disorder can also affect the nervous system, causing weakness, clumsiness, difficulty walking, and seizures. Once these symptoms develop, the syndrome is usually fatal within 30 months.
Diagnosis of Chédiak-Higashi Syndrome
Examination of a blood sample
Genetic testing
A sample of blood is withdrawn and examined under a microscope. Certain abnormalities in white blood cells suggest Chédiak-Higashi syndrome.
The diagnosis can be confirmed with genetic testing using a sample of blood.
Because this disorder is very rare, family members are screened only if they have symptoms suggesting Chédiak-Higashi syndrome.
Treatment of Chédiak-Higashi Syndrome
Antibiotics to prevent infections
Interferon gamma and sometimes corticosteroids
Stem cell transplantation
Treatment of Chédiak-Higashi syndrome involves antibiotics to help prevent infections and interferon gamma (a drug that modifies the immune system) to help the immune system function better.
Corticosteroids and removal of the spleen (splenectomy) sometimes temporarily relieve symptoms.
However, unless stem cell transplantation Stem Cell Transplantation Stem cell transplantation is the removal of stem cells (undifferentiated cells) from a healthy person and their injection into someone who has a serious blood disorder. (See also Overview of... read more is done, most people die of infections by the time they are 7 years old. Transplantation of stem cells from a donor with the same tissue type may cure them. Usually, children are given a chemotherapy drug before transplantation (pretransplant conditioning chemotherapy) to reduce the risk of rejection of the transplanted cells. About 60% of children are alive 5 years after transplantation.
More Information
The following English-language resource may be useful. Please note that THE MANUAL is not responsible for the content of this resource.
Immune Deficiency Foundation: Chronic granulomatous disease and other phagocytic cell disorders: Comprehensive information on primary immunodeficiencies, including Chédiak-Higashi syndrome, from diagnosis and treatment to improving the quality of life for people affected
