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Concept information

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Primary Immunodeficiency Diseases > Chediak-Higashi Syndrome
Immune System Diseases > Immunologic Deficiency Syndromes > Primary Immunodeficiency Diseases > Chediak-Higashi Syndrome
Hemic and Lymphatic Diseases > Hematologic Diseases > Leukocyte Disorders > Phagocyte Bactericidal Dysfunction > Chediak-Higashi Syndrome
Immune System Diseases > Immunologic Deficiency Syndromes > Phagocyte Bactericidal Dysfunction > Chediak-Higashi Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Albinism > Chediak-Higashi Syndrome
Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Albinism > Chediak-Higashi Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Eye Diseases, Hereditary > Albinism > Chediak-Higashi Syndrome
Eye Diseases > Eye Diseases, Hereditary > Albinism > Chediak-Higashi Syndrome
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Albinism > Chediak-Higashi Syndrome
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Albinism > Chediak-Higashi Syndrome
... > Pathological Conditions, Signs and Symptoms > Pathologic Processes > Pigmentation Disorders > Hypopigmentation > Albinism > Chediak-Higashi Syndrome
... > Skin and Connective Tissue Diseases > Skin Diseases > Pigmentation Disorders > Hypopigmentation > Albinism > Chediak-Higashi Syndrome

Terme préférentiel

Chediak-Higashi Syndrome  

Type

  • mesh:Descriptor

Définition

  • A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle.

Concept générique

Concepts spécifiques

Synonyme(s)

  • Chediak-Steinbrinck-Higashi Syndrome
  • Oculocutaneous Albinism with Leukocyte Defect

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-GZ2M9W1G-0

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RDF/XML TURTLE JSON-LD Date de création 01/01/1999, dernière modification le 17/06/2019