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

Chédiak-Higashi syndrome is a rare autosomal recessive disorder that affects multiple systems of the body, and arises from a mutation in the lysosomal trafficking regulator gene, LYST. It occurs in humans, cattle, white tigers, blue Persian cats and orcas.

Contents 1 Eponym 2 Presentation 3 Clinical findings 4 See also 5 References

[edit] Eponym

It is named for Alexander Chédiak and Otokata Higashi.^[1][2][3]

[edit] Presentation

It is a disease with impaired bacteriolysis^[4] 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, anemia, and hepatomegaly.

[edit] Clinical findings

There are several manifestations of Chédiak-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 Staphylococcus aureus.

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

[edit] See also

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

[edit] References

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) - Common variable immunodeficiency - WHIM syndrome Cell-mediated (T) DiGeorge syndrome - Nezelof syndrome - Purine nucleoside phosphorylase deficiency Combined (B+T) Severe combined immunodeficiency (Adenosine deaminase deficiency, Omenn syndrome, X-SCID, ZAP70 deficiency) - Bare lymphocyte syndrome - Wiskott-Aldrich syndrome Complement deficiency Angioedema PBD chemotaxis/degranulation (Leukocyte adhesion deficiency, Chédiak-Higashi syndrome, Hyper-IgE syndrome) respiratory burst (Chronic granulomatous disease, Myeloperoxidase deficiency) Other ICF syndrome Immunoproliferative Hypergammaglobulinemia Paraproteinemia (Cryoglobulinemia, Heavy chain disease, POEMS syndrome, Monoclonal gammopathy of undetermined significance) Lymphoproliferative disorders (Sarcoidosis) Hypersensitivity Type I (Allergy) - Type II - Type III (Serum sickness) - Type IV (Contact dermatitis) Autoimmunity/Autoimmune disease See also hematological malignancy and hematology