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Inherited Defects in Immune Defenses Leading to Pulmonary Disease
Published in Stephen D. Litwin, Genetic Determinants of Pulmonary Disease, 2020
The Chediak-Higashi syndrome is an autosomal recessive inherited disorder of humans and several other species. Giant granules are found in leukocytes and melanocytes and there is susceptibility to infection. The abnormal granules fail to fuse with phagocytic vacuoles, and the bactericidal capacity of the cells is defective [134]. Chediak-Higashi leukocytes also have a less-than-normal response to Chemotaxis.
Ontogeny of Mast Cells
Published in Gérard Chaouat, The Immunology of the Fetus, 2020
Yukihiko Kitamura, Hiroki Nakayama, Akira Kuriu, Jun Fujita
The beige mouse, possessing two mutant alleles at bg locus (chromosome 13), is a similar disorder to the human Chediak-Higashi syndrome. Chediak-Higashi syndrome is characterized cytologically by marked enlargement of lysozomes and specific granules in various types of cells. Most of Chediak-Higashi syndrome patients suffer from severe in fections due to dysfunctions of neutrophils. However, the C57BLI6-bgJ/bgJ mouse does not show such marked susceptibility to infection, and the animals can be kept in a conventional environment in spite of the presence of the giant granules in their neutrophils. The bgJ/bgJ mouse is easily distinguishable from its normal littermates (bgJ + or + / + ) by its diluted coat color, which is attributed to giant melanosomes in pigment cells.
Unexplained Fever In Hematologic Disorders Section 1. Benign Hematologic Disorders
Published in Benedict Isaac, Serge Kernbaum, Michael Burke, Unexplained Fever, 2019
“Chediak Higashi Syndrome” is an autosomal recessive disorder, characterized by the presence of giant cytoplasmatic granules in the neutrophils, lymphocytes, monocytes, and in their precursors. Accompanying disorders are silvery-hair albinism, pancytopenia, bouts of unexplained fever, and neuropathy. In this disorder the neutrophils kill the microorganisms at a slow rate. As a result there are frequent infections of the skin, the mucous membranes and the respiratory tract. In the accelerated phase of this syndrome there is an extensive lymphohistiocytic infiltration of the viscera, with hepatosplenomegaly and fever, at times without any evidence of infection.
Neutrophil phenotypes in chronic lung disease
Published in Expert Review of Respiratory Medicine, 2019
Michael J. Hughes, Elizabeth Sapey, Robert Stockley
Chediak-Higashi syndrome is a rare disease that results in aggregation of peroxidase granules forming large accumulations and poor distribution in the cytoplasm of both neutrophils and eosinophils, seen from the myeloblast stage of granulocyte development [66]. These changes occur because of microtubule disruption due to mutations in lysosomal trafficking regulator (LYST) on chromosome 1q, affecting both granule organization and chemotaxis [67–69] and result in increased frequency of infection, anemia and multiple organ failure, resulting in childhood mortality [66,70,71]. The increased infection rate demonstrates the importance of neutrophil migration and the role of granules in resolving infections.
Chediak Higashi Syndrome with Hemophagocytic Lymphohistiocytosis
Published in Fetal and Pediatric Pathology, 2023
Moeinadin Safavi, Nima Parvaneh
Chediak-Higashi syndrome (CHS) is an autosomal recessive disorder caused by LYST gene mutations. This gene is a lysosomal trafficking regulator and dysfunction results in giant organelles and inclusion bodies formation. CHS manifests as hypopigmentation (severe forms resemble albinism), bleeding tendency, neurological symptoms, and immunodeficiency (loss of function of natural killer cells) [1]. Manifestations of hemophagocytic lymphohistiocytosis (HLH) can develop in CHS due to impaired lysosomal granule secretory process, ineffective natural killer cells, subsequent macrophage activation, and hypercytokinemia [2].
Macrophage activation syndrome in systemic juvenile idiopathic arthritis
Published in Immunological Medicine, 2021
Mutations of the RAB27A gene-encoding Rab27a protein, a MUNC13-4 effector molecule, have been linked to the development of Griscelli syndrome type 2 [33]. Mutations of the Lyst gene-encoding LYST protein, which is essential for lysosomal trafficking and protein sorting, have been identified to cause Chediak–Higashi syndrome [34]. Mutations of the AP3B1 gene-encoding AP3βchain protein, which is essential for the trafficking from Golgi to granules, can cause Hermasly–Pudlak 2 syndrome [35]. These three disorders can be complicated by pHLH with partial albinism.