Bone marrow aspirate in Chédiak–Higashi syndrome

Abdulsalam, Abbas Hashim; Sabeeh, Nafila; Bain, Barbara J.

doi:10.1002/ajh.22123

Cited by 6 publications

(4 citation statements)

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“…Fatality is associated with infections and lymphoproliferative disorders in multiple organs (43). Treatment with bone marrow transplantation may be helpful in correcting neutrophil dysfunction in some patients (1, 96).…”

Section: Diseases Associated With Neutrophil Disordersmentioning

confidence: 99%

Aggressive forms of periodontitis secondary to systemic disorders

Khocht¹,

Albandar²

2014

Periodontology 2000

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A number of systemic disorders increase a patient's susceptibility to destructive periodontitis and have impacts on periodontal disease progression and severity. The underlying factors are usually genetic and are mainly related to alterations in the immune response and in certain endocrine functions, leading to various syndromes in which periodontitis and/or early tooth loss are secondary manifestations. Neutrophils are important immune defense cells that play a significant role in controlling the spread of microbial plaque infections in the dentogingival region. This review focuses on a selected group of systemic disorders that are associated with alterations in either neutrophil counts (quantitative disorders) or function (qualitative disorders), and defects in the mineralization of bone and dental tissues. In most of these diseases controlling the periodontal disease progression is very challenging. Proper diagnosis is a prerequisite for proper management of the periodontal problem. Future advances in research, including gene targeting and the resolution of enzyme deficiencies, may bring about remedies of the underlying systemic disorders and may significantly improve the outcome of periodontal treatment in these patients.

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Section: Diseases Associated With Neutrophil Disordersmentioning

confidence: 99%

Aggressive forms of periodontitis secondary to systemic disorders

Khocht¹,

Albandar²

2014

Periodontology 2000

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“…Bone marrow transplantation is the treatment choice, and thus the predisposition to periodontal disease can be diminished [48,59,60].…”

Section: Chédiak-higashi Syndromementioning

confidence: 99%

Untitled

2015

Int J Oral Dent Health

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“…Chediak–Higashi syndrome (CHS) is an autosomal recessive disorder characterized by severe immune deficiency, hypopigmentation of the skin and eyes, silvery hair, recurrent pyogenic infections, progressive neurological defects, and lymphoproliferative disorders . The condition, first described by numerous investigators separately, is caused by homozygous or compound heterozygous mutations of the lysosomal trafficking ( LYST ) gene leading to defective trafficking to and from the lysosome and causing enlarged lysosomes . Myeloperoxidase positive granules in leukocytes are a characteristic finding in peripheral blood smears of all patients with CHS and can be the only early sign of CHS in milder forms of the disease.…”

Section: Introductionmentioning

confidence: 99%

“…1 The condition, first described by numerous investigators separately, 2-5 is caused by homozygous or compound heterozygous mutations of the lysosomal trafficking (LYST) gene leading to defective trafficking to and from the lysosome and causing enlarged lysosomes. [6][7][8] Myeloperoxidase positive granules in leukocytes are a characteristic finding in peripheral blood smears of all patients with CHS and can be the only early sign of CHS in milder forms of the disease. Numerous case reports in the Indian literature cite the rarity, treatment response, skin biopsy findings, and hair microscopy of CHS.…”

Section: Introductionmentioning

confidence: 99%

A clinical report of Chediak–Higashi syndrome in infancy with a novel genotype from the Indian subcontinent

et al. 2015

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Chediak-Higashi syndrome (CHS; OMIM no. 214500) is an inherited multisystem disorder presenting with hypopigmentation and a propensity to infections due to immunological dysfunction. CHS generally presents in infancy with a fatal outcome, but less severe cases can present in adulthood. Treatment with bone marrow transplantation can be life-saving, so establishing a correct diagnosis is critical. The presence of large granules on examination of peripheral blood smears is suggestive of the diagnosis of CHS in most centers. However, sequencing of the lysosomal trafficking, LYST, gene confirms the diagnosis and can provide a prognosis regarding disease severity. In the case presented here, we performed molecular testing to identify the causative mutation and tabulated published mutation data from 2009 to 2014. We found a novel frameshift mutation in our case and concluded that frameshift and nonsense are the most common types of mutation in CHS, but this may be biased due to underdiagnosis of the milder and atypical forms of the disease.

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Bone marrow aspirate in Chédiak–Higashi syndrome

Cited by 6 publications

References 0 publications

Aggressive forms of periodontitis secondary to systemic disorders

Aggressive forms of periodontitis secondary to systemic disorders

Untitled

A clinical report of Chediak–Higashi syndrome in infancy with a novel genotype from the Indian subcontinent

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