Chédiak-Higashi syndrome

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Chédiak-Higashi syndrome Classification and external resources
ICD-10	E70.3 (E70.340 ILDS)
ICD-9	288.2
OMIM	214500
DiseasesDB	2351
eMedicine	derm/704
MeSH	D002609

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Chédiak-Higashi syndrome is a rare childhood autosomal recessive disorder that affects multiple systems of the body, and arises from a mutation in the lysosomal trafficking regulator gene, LYST.

It is a disease with impaired bacteriolysis due to failure of phagolysosome formation. As a result of disordered intracellular trafficking there is impaired lysosome degranulation with phagosomes, so phagocytosed bacteria are not destroyed by the lysosome's enzymes.

In addition, secretion of lytic secretory granules by cytotoxic T cells is also affected.

The disease is characterised by large lysosome vesicles in phagocytes (neutrophils), which thus have poor bactericidal function, leading to susceptibility to infections, abnormalities in nuclear structure of leukocytes, anaemia, and hepatomegaly.

Clinical findings

There are several manifestations of Chediak-Hegashi syndrome as mentioned above; however, neutropenia seems to be the most common. The syndrome is also associated with oculocutaneous albinism. Persons are also prone for infections, especially with Staph. Aureus.

Associated features: Abnormalities in melanocytes (albinism), nerve defects, bleeding disorders.

See also

• Griscelli syndrome (also known as "Chédiak-Higashi like syndrome")

External links

• synd/1745 at Who Named It

v • d • e Pathology: Immune disorders (primarily D80-D89, 273, 279)
Immunodeficiency	Primary Antibody/humoral (B) Hypogammaglobulinemia/agammaglobulinemia (X-linked, Transient of infancy) - Dysgammaglobulinemia (IgA, IgG, IgM) - Hyper IgM syndrome (1, 2, 5) - Common variable immunodeficiency Cell-mediated (T) DiGeorge syndrome - Nezelof syndrome - Purine nucleoside phosphorylase deficiency - Ataxia telangiectasia Severe combined (B+T) x-linked: X-SCID autosomal: Adenosine deaminase deficiency - Omenn syndrome - ZAP70 deficiency - Bare lymphocyte syndrome Complement deficiency Angioedema - Complement 2 deficiency PBD chemotaxis/degranulation (Leukocyte adhesion deficiency, Chédiak-Higashi syndrome, Hyper-IgE syndrome) respiratory burst (Chronic granulomatous disease, Myeloperoxidase deficiency) Other ICF syndrome - Wiskott-Aldrich syndrome - WHIM syndrome Acquired AIDS
Immunoproliferative	Hypergammaglobulinemia Paraproteinemia (Cryoglobulinemia, Heavy chain disease, POEMS syndrome, Monoclonal gammopathy of undetermined significance) Lymphoproliferative disorders (Sarcoidosis)
Other	Hypersensitivity and Autoimmunity/Autoimmune disease
See also hematological malignancy and hematology

de:Chediak-Higashi-Syndrom ja:チェディアック・東症候群

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Acknowledgement and Attribution Regarding Sources of Content

Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .