Inherited bone marrow failure syndromes in 2012

Sakaguchi, Hirotoshi; Nakanishi, Koji; Kojima, Seiji

doi:10.1007/s12185-012-1249-9

Cited by 25 publications

(24 citation statements)

References 72 publications

(80 reference statements)

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“…FA is defined by mutations in 16 genes identified thus far, with FANCA mutations accounting for 60% to 70% of the patients. 3 Eight FANC proteins (FANCA, -B, -C, -E, -F, -G, -L, and -M) constitute the FANCcore complex, which possesses E3-ubiquitin ligase activity and monoubiquitinates FANCD2 and FANCI, a step required for their relocalization to subnuclear repair foci. 4 The other FANC proteins are subunits of endonuclease complexes (FANCP/SLX4 and FANCQ/XPF) and factors involved in homologous recombination (FANCJ/BRIP1, FANCO/RAD51C, FANCD1/BRCA2, and FANCN/PALB2).…”

Section: Introductionmentioning

confidence: 99%

Defective endomitosis during megakaryopoiesis leads to thrombocytopenia in Fanca−/− mice

Pawlikowska

Fouchet

Vainchenker

et al. 2014

Blood

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Section: Introductionmentioning

confidence: 99%

Defective endomitosis during megakaryopoiesis leads to thrombocytopenia in Fanca−/− mice

Pawlikowska

Fouchet

Vainchenker

et al. 2014

Blood

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“…Since the diagnoses of the two syndromes are not mutually exclusive, attempts to differentiate between them by following conventional diagnostic criteria are of limited value. Instead, it is clinically relevant to distinguish a benign subset of BM failure, which is likely to respond to immunosuppressive therapy (IST), from other types of BM failure, including those with pre-leukemic features and inherited BM failure syndromes [4]. In this review article, we discuss the adverse outcomes of a misdiagnoses of AA and low-risk MDS, citing two representative cases, and introduce markers that can help to differentiate immune pathophysiology from non-immune pathophysiology in BM failure.…”

Section: Introductionmentioning

confidence: 99%

Border between aplastic anemia and myelodysplastic syndrome

Yamazaki

Nakao

2013

Int J Hematol

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Distinguishing between acquired aplastic anemia (AA) and myelodysplastic syndrome (MDS) with a low blast cell percentage is often difficult and problematic, as both diseases are syndromes primarily defined by morphological findings, and their diagnostic criteria do not necessarily reflect the pathophysiology of their bone marrow (BM) failure. As a result, many patients with benign BM failure that should be managed as AA are diagnosed as having MDS, due to the absence of BM hypocellularity and the presence of dysplastic signs in the BM, and are treated inappropriately with toxic therapies, such as hypomethylating agents, and stem cell transplantation from unrelated donors. BM failure syndromes need to be managed in ways appropriate to their pathophysiology, which is more accurately determined by using markers such as the presence of glycosylphosphatidylinositol-anchored protein-deficient cells and HLA-A lacking leukocytes. We recently found that plasma thromobopoietin level is one of the most useful markers for distinguishing benign and pre-leukemic BM failure syndromes.

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“…Widoczne cechy dymorficzne mogą stanowić ważną wskazówkę ułatwiającą rozpoznanie [6]. DBA jest rzadko występującą chorobą (około 5-7 przypadków na milion urodzeń) uwarunkowaną genetycznie, związaną z selektywną hipoplazją prekursorów układu czerwonokrwinkowego w szpiku [7]. U około 50% pacjentów z DBA stwierdza się pojedyncze mutacje w genach kodujących białka rybosomalne [8].…”

Section: Wprowadzenieunclassified

Niedokrwistość Blackfana i Diamonda z towarzyszącą replikacją parwowirusa B19. Opis przypadku

Krukowska-Jaros¹,

Niedzielska²,

Ussowicz³

et al. 2015

Pediatria Polska

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p e d i a t r i a p o l s k a 9 0 ( 2 0 1 5 ) 2 5 1 -2 5 5 i n f o r m a c j e o a r t y k u l e Historia artykułu: Otrzymano: 02.02.2015 Zaakceptowano: 27.03.2015 Dostępne online: 08.04.2015 Słowa kluczowe: niemowlę anemia niedokrwistości wrodzone cechy dysmorficzne Keywords: Infant Anaemia Congenital anaemia Dysmorphic features a b s t r a c t Anaemia is one of the most common haematological problems in infants. Diagnosis of anaemia is based on anamnesis, the results of physical examination and basic laboratorytests. During infancy, one of the main causes of anaemia is iron deficiency but in some cases haematopoiesis can be hampered by myeloproliferative disease, congenital or acquired bone marrow failure, too. This paper presents a case report of a 6-month-old girl with typical dysmorphic features. Initially the girl was diagnosed with iron-deficiency anaemia, due to suspected chronic gastrointestinal bleeding, as a result of cow's milk protein allergy. A replication of Parvovirus B19 was found in peripheral blood and bone marrow. After therapy with iron supplementation, milk-free diet and intravenous immunoglobulins, her haematological parameters have not improved and the girl required multiple packed red blood cell transfusions. After additional testing, the patient was diagnosed with Diamond-Blackfan anaemia, and was treated with prednisone, which led to improvement and transfusion independence. This case illustrates the need for accurate diagnosis even in common paediatric ailments.

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Inherited bone marrow failure syndromes in 2012

Cited by 25 publications

References 72 publications

Defective endomitosis during megakaryopoiesis leads to thrombocytopenia in Fanca−/− mice

Defective endomitosis during megakaryopoiesis leads to thrombocytopenia in Fanca−/− mice

Border between aplastic anemia and myelodysplastic syndrome

Niedokrwistość Blackfana i Diamonda z towarzyszącą replikacją parwowirusa B19. Opis przypadku

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