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Information about Chediak Higashi Syndrome


Classification & external resources
ICD-10E70.3 (E70.340 ILDS)
ICD-9288.2
OMIM214500
DiseasesDB2351
eMedicinederm/704 
MeSHD002609
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

External links

For other uses of "ICD", see ICD (disambiguation).


The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD
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List of ICD-10 codes. The version for 2007 is available online at [1]

Chapter Blocks Title
I Certain infectious and parasitic diseases
II Neoplasms
III Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
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For other uses of "ICD", see ICD (disambiguation).


The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD
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The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. These codes are in the public domain.

See also


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The Diseases Database is a free website that provides information about the relationships between medical conditions, symptoms, and medications.

It directly integrates the Unified Medical Language System.

External links

  • Diseases Database

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eMedicine is an online clinical medical knowledge base that was founded in 1996 by Scott Plantz and Richard Lavely, two medical doctors. It was sold to WebMD in January 2006.
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Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. Created and updated by the United States National Library of Medicine (NLM), it is used by the MEDLINE/PubMed
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mutations are changes to the base pair sequence of the genetic material of an organism. Mutations can be caused by copying errors in the genetic material during cell division, by exposure to ultraviolet or ionizing radiation, chemical mutagens, or viruses, or can occur deliberately
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Lysosomal trafficking regulator is a vesicular transport protein associated with Chédiak-Higashi syndrome.

External links

  • MeSH lysosomal+trafficking+regulator+protein,+human


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A phagolysosome is a membrane-bound organelle which is formed from the fusing of a lysosome and a phagosome. This process of phagolysosome formation is common in immunological functions of macrophages.
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Lysosomes are organelles that contain digestive enzymes (acid hydrolases). They digest excess or worn out organelles, food particles, and engulfed viruses or bacteria. The membrane surrounding a lysosome prevents the digestive enzymes inside from destroying the cell.
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103 (10): 3845-53. PMID 14739229.
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In cell biology, a phagosome is a vacuole formed around a particle absorbed by phagocytosis. The vacuole is formed by the fusion of the cell membrane around the particle. A phagosome is a cellular compartment in which pathogenic microorganisms can be killed and digested.
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Bacteria

Phyla

Actinobacteria
Aquificae
Chlamydiae
Bacteroidetes/Chlorobi
Chloroflexi
Chrysiogenetes
Cyanobacteria
Deferribacteres
Deinococcus-Thermus
Dictyoglomi
Fibrobacteres/Acidobacteria
Firmicutes
Fusobacteria
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Lysosomes are organelles that contain digestive enzymes (acid hydrolases). They digest excess or worn out organelles, food particles, and engulfed viruses or bacteria. The membrane surrounding a lysosome prevents the digestive enzymes inside from destroying the cell.
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Enzymes are proteins that catalyze (i.e. accelerate) chemical reactions.[1] In enzymatic reactions, the molecules at the beginning of the process are called substrates, and the enzyme converts them into different molecules, the products.
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cytotoxic T cell (also known as TC, CTL, T-Killer cell or killer T cell) belongs to a sub-group of T lymphocytes (a type of white blood cell) which are capable of inducing the death of infected somatic or tumor cells; they kill cells that are infected with
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Vesicle may refer to
  • Vesicle (biology), a relatively small and enclosed compartment within a cell
  • Vesicular texture, a small enclosed cavity found in some volcanic rock, such as basalt

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A phagocyte is a cell that ingests and destroys foreign matter such as microorganisms or debris by a process known as phagocytosis.

Types of Phagocytes

There are three main categories of phagocytes: [1]
  • macrophages (and monocytes)

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A bactericide or bacteriocide is a substance that kills bacteria and, preferably, nothing else. Bactericides are either disinfectants, antiseptics or antibiotics.

Important Functional Groups in a Bactericidal Substance


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Anemia
Classification & external resources

ICD-10 D 50. -D 64.
ICD-9 280 - 285

DiseasesDB 663
MedlinePlus 000560
eMedicine med/132   emerg/808 emerg/734
MeSH D000740

Anemia (AmE) or anæmia/anaemia
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<noinclude> </noinclude> Hepatotoxicity (from hepatic toxicity) implies chemical-driven liver damage. Liver plays central role in transformation and clearance of most chemicals and is susceptible to the toxicity from these agents.
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Neutropenia
Classification & external resources

ICD-10 D 70.
ICD-9 288.0

Neutropenia (or neutropaenia, adjective neutrop(a)enic
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Albinism
Classification & external resources

Albinistic boy
ICD-10 E 70.3
ICD-9 270.2

OMIM 203100 103470 , 203200 , 203280 ,
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Griscelli syndrome is a rare autosomal childhood disorder characterised by albinism (hypopigmentation).

Types

  • Type I Griscelli syndrome -- MYO5A
  • Type II Griscelli syndrome is caused by the knock out of the gene for Rab27A and is characterised by

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Who Named It? is an English-language dictionary of medical eponyms and the people associated with their identification. Though this is a dictionary, many eponyms and persons are presented in extensive articles with comprehensive bibliographies.
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