scholarly journals A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia

Blood ◽  
2016 ◽  
Vol 128 (15) ◽  
pp. 1913-1917 ◽  
Author(s):  
Daniel A. Lichtenstein ◽  
Andrew W. Crispin ◽  
Anoop K. Sendamarai ◽  
Dean R. Campagna ◽  
Klaus Schmitz-Abe ◽  
...  
Keyword(s):  
Sideroblastic Anemia ◽  
Respiratory Complex ◽  
Key Points ◽  
Congenital Sideroblastic Anemia

Key Points A recurring mutation in NDUFB11 causes congenital sideroblastic anemia. The NDUFB11 p.93del mutation impairs erythroid proliferation, but not differentiation.

scholarly journals A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)

Blood ◽  
2013 ◽  
Vol 122 (1) ◽  
pp. 112-123 ◽  
Author(s):  
Daniel H. Wiseman ◽  
Alison May ◽  
Stephen Jolles ◽  
Philip Connor ◽  
Colin Powell ◽  
...  
Keyword(s):  
Bone Marrow ◽  
B Cell ◽  
Developmental Delay ◽  
Bone Marrow Transplant ◽  
Marrow Transplant ◽  
Clinical Syndrome ◽  
Sideroblastic Anemia ◽  
Key Points ◽  
Congenital Sideroblastic Anemia

Key Points A novel clinical syndrome of CSA, B-cell immunodeficiency, periodic fevers, and developmental delay is described. Bone marrow transplant resulted in complete and durable resolution of the hematologic and immunologic manifestations.

scholarly journals Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

Blood ◽  
2014 ◽  
Vol 124 (18) ◽  
pp. 2867-2871 ◽  
Author(s):  
Pranesh K. Chakraborty ◽  
Klaus Schmitz-Abe ◽  
Erin K. Kennedy ◽  
Hapsatou Mamady ◽  
Turaya Naas ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Loss Of Function ◽  
Partial Loss ◽  
Sideroblastic Anemia ◽  
Key Points ◽  
Congenital Sideroblastic Anemia

Key PointsSIFD is a syndromic form of congenital sideroblastic anemia associated with immunodeficiency, periodic fevers, and developmental delay. SIFD is due to partial loss-of-function mutations in the CCA-adding enzyme TRNT1.

scholarly journals Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity

Haematologica ◽  
2018 ◽  
Vol 103 (12) ◽  
pp. e561-e563 ◽  
Author(s):  
Simon Berhe ◽  
Matthew M. Heeney ◽  
Dean R. Campagna ◽  
John F. Thompson ◽  
Eric J. White ◽  
...  
Keyword(s):  
Clinical Severity ◽  
Sideroblastic Anemia ◽  
Congenital Sideroblastic Anemia

scholarly journals Congenital sideroblastic anemia in a female

2018 ◽  
Vol 93 (9) ◽  
pp. 1181-1182
Author(s):  
Sophie Hanina ◽  
Barbara J. Bain ◽  
Barnaby Clark ◽  
D. Mark Layton
Keyword(s):  
Sideroblastic Anemia ◽  
Congenital Sideroblastic Anemia

scholarly journals GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia

2019 ◽  
Vol 128 (3) ◽  
pp. 342-351 ◽  
Author(s):  
Raêd Daher ◽  
Abdellah Mansouri ◽  
Alain Martelli ◽  
Sophie Bayart ◽  
Hana Manceau ◽  
...  
Keyword(s):  
Biosynthetic Enzymes ◽  
Sideroblastic Anemia ◽  
Congenital Sideroblastic Anemia

scholarly journals Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia

2020 ◽  
Vol 130 (10) ◽  
pp. 5245-5256
Author(s):  
Andrew Crispin ◽  
Chaoshe Guo ◽  
Caiyong Chen ◽  
Dean R. Campagna ◽  
Paul J. Schmidt ◽  
...  
Keyword(s):  
Sideroblastic Anemia ◽  
Iron Sulfur Cluster ◽  
Sulfur Cluster ◽  
Iron Sulfur ◽  
Congenital Sideroblastic Anemia
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