Lymphocyte dysfunction in congenital hypoplastic anemia.

Finlay, Jonathan L.; Shahidi, Nasrollah T.; Horowitz, Stuart; Borcherding, Wayne; Hong, Richard

doi:10.1172/jci110655

Cited by 25 publications

(15 citation statements)

References 17 publications

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“…Immunodeficiency had been reported in some DBA patients [31,32]. In our clinical observation, infection was the most common reason for a poor response to the treatment and a decrease in the Hb or even a relapse.…”

Section: Discussionsupporting

confidence: 47%

Clinical features, mutations and treatment of 104 patients of Diamond-Blackfan anemia in China: a single-center retrospective study

Wan

Chen

et al. 2016

Int J Hematol

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Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by a paucity of erythroid progenitors. We summarized the clinical and genetic features of 104 DBA patients in a single-center retrospective study in China. Data of DBA patients who received consultations at our center from 2003 to 2015 were analyzed retrospectively. Genes encoding 10 ribosomal proteins (RPs) and GATA1 were sequenced for mutation detection. Our cohort was composed of 65 males and 39 females. Congenital malformations were observed in 19 patients. Mutations of the RP genes were detected in 58.3 % patients. Twenty different mutations were first reported. Thirty-four patients received prednisone combined with CsA therapy, and improvement was observed in 20 cases. During follow-up for a median 39 months, 33.7 % of the patients achieved remission, 41.3 % of the patients were persistently transfusion independent, 21.7 % of the patients were transfusion dependent, and three patients died. The patient group with detected mutations had a younger age of disease onset, a higher malformation rate, and tended to have a lower remission rate and a higher transfusion-dependence rate. Prednisone in combination with cyclosporine A can be a second-line choice for DBA patients. Differences were detected between DBA patients with and without detectable mutations in the genes studied.

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Section: Discussionsupporting

confidence: 47%

Clinical features, mutations and treatment of 104 patients of Diamond-Blackfan anemia in China: a single-center retrospective study

Wan

Chen

et al. 2016

Int J Hematol

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“…Thus, the erythroid failure in DBA could have arisen from an absence of, or failure in, any one of these elements to act or to respond appropriately. The myriad discarded explanations for this hypoproliferative anemia include humoral [69] or cellular [70,71] suppression of erythropoiesis, a microenvironmental defect [72] and accessory cell failure [73]. The concept of erythroid failure as a consequence of a block in the erythroid maturation pathway was introduced [74,75] in the late 1970s.…”

Section: Etiology and Pathogenesismentioning

confidence: 99%

Diamond Blackfan anemia: a model for the translational approach to understanding human disease

Vlachos

Blanc²,

Lipton³

2014

Expert Review of Hematology

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Diamond Blackfan anemia (DBA) is an inherited bone marrow failure syndrome. As with the other rare inherited bone marrow failure syndromes, the study of these disorders provides important insights into basic biology and, in the case of DBA, ribosome biology; the disruption of which characterizes the disorder. Thus DBA serves as a paradigm for translational medicine in which the efforts of clinicians to manage DBA have informed laboratory scientists who, in turn, have stimulated clinical researchers to utilize scientific discovery to provide improved care. In this review we describe the clinical syndrome Diamond Blackfan anemia and, in particular, we demonstrate how the study of DBA has allowed scientific inquiry to create opportunities for progress in its understanding and treatment.

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“…There is emerging evidence that loss of Shwachman-Bodian-Diamond syndrome (SBDS) protein affects haematopoeisis and numbers of circulating B lymphocytes [5]. Craniofacial malformation syndromes such as Treacher-Collins syndrome, caused by haploinsufficiency of the treacle protein, also affect the cells of the immune system [6], and a broader immunological defect has been described in the congenital anaemia of Diamond-Blackfan syndrome (Diamond-Blackfan anaemia: DBA) [7]. The 5q-syndrome, a somatically acquired deletion of chromosome 5q and a subtype of myelodysplastic syndrome, leads to haploinsufficiency of a ribosomal protein that is also implicated in DBA.…”

Section: Introductionmentioning

confidence: 99%

Do ribosomopathies explain some cases of common variable immunodeficiency?

Khan

Pereira

Darbyshire

et al. 2010

Clinical and Experimental Immunology

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SummaryThe considerable clinical heterogeneity of patients with common variable immunodeficiency disorders (CVID) shares some similarity with bonemarrow failure disorders such as Diamond-Blackfan anaemia (DBA) and Shwachman-Diamond syndrome (SDS), now recognized as defects in ribosome biogenesis or ribosomopathies. The recognition of a patient with DBA who subsequently developed CVID lends support to our previous finding of a heterozygous mutation in the SBDS gene of SBDS in another CVID patient, suggesting that ribosome biogenesis defects are responsible for a subset of CVID. Genetic defects in the ribosomal translational machinery responsible for various bone marrow failure syndromes are recognized readily when they manifest in children, but diagnosing these in adults presenting with complex phenotypes and hypogammaglobulinaemia can be a challenge. In this perspective paper, we discuss our clinical experience in CVID patients with ribosomopathies, and review the immunological abnormalities in other conditions associated with ribosomal dysfunction. With genetic testing available for various bone marrow failure syndromes, our hypothesis that ribosomal abnormalities may be present in patients with CVID could be proved in future studies by testing for mutations in specific ribosomal genes. New knowledge might then be translated into novel therapeutic strategies for patients in this group of immunodeficiency disorders.

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Lymphocyte dysfunction in congenital hypoplastic anemia.

Cited by 25 publications

References 17 publications

Clinical features, mutations and treatment of 104 patients of Diamond-Blackfan anemia in China: a single-center retrospective study

Clinical features, mutations and treatment of 104 patients of Diamond-Blackfan anemia in China: a single-center retrospective study

Diamond Blackfan anemia: a model for the translational approach to understanding human disease

Do ribosomopathies explain some cases of common variable immunodeficiency?

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