Bloom's Syndrome

Kerckhove, C W Van; Ceuppens, Jan L.; Vanderschueren-Lodeweyckx, M; Eggermont, Ephrem; Vertessen, Simonne; Stevens, Erik

doi:10.1001/archpedi.1988.02150100083032

Cited by 31 publications

(2 citation statements)

References 26 publications

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“…BS includes an immune deficiency that often leads to life-threatening infections. Patients usually present with low concentrations of one or more plasma immunoglobulins and fail to develop delayed-type hypersensitivity (Hütteroth et al, 1975; Van Kerckhove et al, 1988; Kondo et al, 1992). BS patients are also at risk of developing diabetes mellitus.…”

Section: Discussionmentioning

confidence: 99%

Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS

Gratia

Rodero

Conrad

et al. 2019

Journal of Experimental Medicine

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Section: Discussionmentioning

confidence: 99%

Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS

Gratia

Rodero

Conrad

et al. 2019

Journal of Experimental Medicine

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“…12,13 In a case series, almost all patients with BS were found to have normal amounts of B and T cells. However, some patients with low CD4-positive T cells 14 and B-cell lineages have been reported. 15 Schoenaker et al analyzed the serum immunoglobulin (Ig) levels and number of natural killer, T, and B cells among 6 patients with BS.…”

Section: Discussionmentioning

confidence: 99%

Coexistence of Bloom Syndrome and Kostmann Disease and a Novel Mutation

Pekpak Sahinoglu,

Oren,

Sahinoglu

et al. 2023

Journal of Pediatric Hematology/Oncology

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Bloom syndrome (BS) is a rare autosomal recessive inherited disorder. Patients with BS have photosensitivity, telangiectatic facial erythema, and stunted growth. They usually have mild microcephaly, and distinctive facial features such as a narrow, slender face, micrognathism, and a prominent nose. Kostmann disease (KD) is a subgroup of severe congenital neutropenias. The diagnosis of severe congenital neutropenia is based on clinical symptoms, bone marrow findings, and genetic mutation. Here, we report a female patient with a triangular face, nasal prominence, and protruding ears presenting with recurrent infections and severe neutropenia. Molecular genetic testing revealed a compound heterozygous variant in the HCLS-1–associated protein X-1 gene [(c.130_131insA) p.(trp44*), c.430 dup(p.Val144fs)] and a new homozygous variant in Bloom Syndrome RecQ like helicase gene [c.2074+2T>C p.(?)]. She was diagnosed with both BS and KD. To the best of our knowledge, this is the first case of coexisting BS and KD in a patient ever reported.

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Health supervision for people with Bloom syndrome

Cunniff

Djavid

Carrubba

et al. 2018

American J of Med Genetics Pt A

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Bloom Syndrome (BSyn) is an autosomal recessive disorder that causes growth deficiency, endocrine abnormalities, photosensitive skin rash, immune abnormalities, and predisposition to early-onset cancer. The available treatments for BSyn are symptomatic, and early identification of complications has the potential to improve outcomes. To accomplish this, standardized recommendations for health supervision are needed for early diagnosis and treatment. The purpose of this report is to use information from the BSyn Registry, published literature, and expertise from clinicians and researchers with experience in BSyn to develop recommendations for diagnosis, screening, and treatment of the clinical manifestations in people with BSyn. These health supervision recommendations can be incorporated into the routine clinical care of people with BSyn and can be revised as more knowledge is gained regarding their clinical utility.

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Bloom's Syndrome

Cited by 31 publications

References 26 publications

Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS

Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS

Coexistence of Bloom Syndrome and Kostmann Disease and a Novel Mutation

Health supervision for people with Bloom syndrome

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