Bloom's syndrome

Gretzula, Joseph C.; Hevia, Oscar; Weber, Paul J.

doi:10.1016/s0190-9622(87)70233-3

Cited by 46 publications

(32 citation statements)

References 40 publications

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“…However menopauses occurs early 6 as in the two female adult patients of our series. BS is characterized by an immune deficiency with a decrease in Ig A, Ig G and Ig M with predisposition to recurrent diseases mainly of upper respiratory tract as well as urinary and digestive systems.…”

Section: Resultsmentioning

confidence: 55%

“…BS is characterized by an immune deficiency with a decrease in Ig A, Ig G and Ig M with predisposition to recurrent diseases mainly of upper respiratory tract as well as urinary and digestive systems. 6 Recurrent bronchopulmonary infections as well as of the oropharynx, occurred in childhood in all of our patients. The consequences of these recurrent infections are severe in patients with delayed development.…”

Section: Resultsmentioning

confidence: 59%

“…The consequences of these recurrent infections are severe in patients with delayed development. 6 However, the immunologic deficiency status is not correlated with predisposition to the infections. The cellular immunity is normal in these patients.…”

Section: Resultsmentioning

confidence: 99%

“…4 Growth delay would not be related to organ failure or hormonal imbalance. 5,6 It starts as prenatal dwarfism responsible for the low weight at birth. Later on, the height and weight follow a slow progression (less than 1 cm per year until 21 years of age).…”

Section: Discussionmentioning

confidence: 99%

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Clinical and laboratory findings in 8 patients with Bloom's syndrome

Masmoudi

Marrakchi²,

Kamoun³

et al. 2012

J Dermatol Case Rep

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Bloom's syndrome is a rare autosomal recessive disorder caused by germline mutation of the BLM gene. The objective of this study was to illustrate the clinical, biological and genetic characteristics of this syndrome through Tunisian series. We report in a retrospective study 8 case of bloom's syndrome observed during 20 years.Results: Our patients were 4 males and 4 females issued from 5 families. For all patients, the parents were consanguineous. The age was 13 to 39 years. The telangiectatic erythema was developed in all the patients between 6 months and 2 years old on the cheeks, on the nose, on the lips and the lower eyebrows. The photosensitivity was constant and was complicated by vesicules and bullae for 5 patients who had extensive lesions, three patients noted accentuation of their telangiectasic erythema. An improvement with the age was noticed for the first four patients. The growth deficiency was observed for all patients. It was marked, between -2 and -4 DS (standard deviation). The number of sister chromatid exchange was increased to twelve fold comparatively to normal subjects. Two patients developed a breast cancer; the evolution was fatal in one. Another patient developed a leukaemia, the evolution was also fatal. Conclusion:Bloom's syndrome is a rare genodermatitis. All the patients presented three symptoms: telangiectatic erythema, growth delay and photosensitivity associated with immunodeficiency. There is significant risk of cancer, so that follow up of patients is mandatory. (J Dermatol Case Rep. 2012; 6(1): 29-33)

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Section: Resultsmentioning

confidence: 55%

Section: Resultsmentioning

confidence: 59%

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Clinical and laboratory findings in 8 patients with Bloom's syndrome

Masmoudi

Marrakchi²,

Kamoun³

et al. 2012

J Dermatol Case Rep

View full text Add to dashboard Cite

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“…Many of them have been known to either interact with BRCA1 or to be involved in BRCA1 transactivation pathways. These include ATM (Barlow et al, 1996), BRCA2 (Connor et al, 1997), MSH2 (Wang et al, 2001), MSH6 (Edelmann et al, 1997), p53 (Donehower et al, 1992), BLM (Gretzula et al, 1987;Luo et al, 2000) and Fanconi Anemia proteins (Garcia-Higuera et al, 2001).…”

Section: Discussionmentioning

confidence: 99%

Normal lymphocyte development and thymic lymphoma formation in Brca1 exon-11-deficient mice

Bachelier¹,

Xu²,

Wang³

et al. 2003

Oncogene

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Breast-cancer-associated gene 1 (BRCA1) is highly expressed in thymus and spleen. In this paper, we have studied lymphocyte development and tumorigenesis in mice carrying mutations in Brca1 and p53. We show that the deletion of Brca1 exon 11 (Brca1-D11), which disrupts the full-length isoform, but not the short isoform of Brca1, does not interfere with lymphocyte development. This is true irrespective of p53 status, that is, whether it is wild type, heterozygous or homozygous for a null mutation. These data suggest that the expression of Brca1 short isoform alone is enough to maintain normal development of lymphocytes. However, it cannot suppress tumorigenesis as about 30% of Brca1+/À mice develop thymic lymphoma between 3 and 7 months of age. We demonstrate that p53 plays an essential role in Brca1-associated lymphoma, as all the tumors from Brca1 D11/ D11 p53 +/À mice exhibit LOH of p53 and Brca1À/À mice exhibited accelerated tumorigenesis. We further demonstrate that the Brca1-D11 deficiency does not affect thymocyte proliferation; however, it increases genetic instability and triggers c-irradiation-induced apoptosis. The loss of p53 attenuates apoptosis and allows accumulation of further mutations in Brca1-D11 thymocytes, eventually leading to thymic lymphoma formation.

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Genetics and Genodermatoses

Harper¹,

Trembath²

2004

Rook's Textbook of Dermatology

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Bloom's syndrome

Cited by 46 publications

References 40 publications

Clinical and laboratory findings in 8 patients with Bloom's syndrome

Clinical and laboratory findings in 8 patients with Bloom's syndrome

Normal lymphocyte development and thymic lymphoma formation in Brca1 exon-11-deficient mice

Genetics and Genodermatoses

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