Successful cord blood transplantation in a premature and dysmature neonate of 1700 g with reticular dysgenesis

Reubsaet, Lieke; Boelens, Jaap Jan; Rademaker, C; Smal, J; Wulffraat, Nico

doi:10.1038/sj.bmt.1705577

Cited by 7 publications

(2 citation statements)

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“…As already described by De Vaal and Seynhaeve (1959), many successive patients with RD were born premature and small for gestational age (Ownby et al, 1976;Haas et al, 1977;Espanol et al, 1979;Levinsky & Tiedeman, 1983;Reubsaet et al, 2007;Hoenig et al, 2017). As AK2 is expressed in many tissues and plays a role in basic processes of cellular energy supply, a crucial role of AK2 in intrauterine growth could be postulated, although the mechanisms that translate these metabolic processes into premature birth are unknown.…”

Section: Clinical Presentationmentioning

confidence: 92%

Recent advances in understanding the pathogenesis and management of reticular dysgenesis

et al. 2017

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Reticular Dysgenesis is a rare immunodeficiency which is clinically characterized by the combination of Severe Combined Immunodeficiency (SCID) with agranulocytosis and sensorineural deafness. Mutations in the gene encoding adenylate kinase 2 (AK2) were identified to cause this phenotype. In this review, we will demonstrate important clinical differences between reticular dysgenesis and other SCID entities and summarize recent concepts in the understanding of the pathophysiology of the disease and the management strategies for this difficult condition.

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Section: Clinical Presentationmentioning

confidence: 92%

Recent advances in understanding the pathogenesis and management of reticular dysgenesis

et al. 2017

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“…The lack of polymorphonuclear neutrophils (PMNs) in affected patients is responsible for the occurrence of severe infections earlier than is usually observed in other forms of SCID2,3. RD-associated neutropenia is characterized by lack of responsiveness to granulocyte-colony stimulating factor (G-CSF)4.…”

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confidence: 99%

Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness

et al. 2008

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Corresponding author: m.cavazzana@nck.aphp.fr, Professor Marina Cavazzana-Calvo, Biotherapy Department, Hopital Necker EnfantsMalades, 149 rue de Sevres, F-75015 Paris, France; tel. +33 1 44 49 50 68; fax +33 1 44 49 25 05. 18 These authors contributed equally to this work 19 These authors contributed equally to this work Author contributions: C.L.-P. and E.M.S contributed equally to this study by performing most of the experimental work and analysis, with the assistance of C.D.-C. and E.M. C.Picard and F.R.-L. performed apoptotic tests on the fibroblasts, gave critical advices and comments in designing the experiments. Experiments shown in Fig. 4 were performed by V.M. A.D. performed the RNA interference experiments. F.V. provided expertise in histological examination. K.L.S.-S. mapped P6 deletion and found P7 mutation. J.C.M. performed the sequencing project. C.B. performed the genome-wide linkage scan. C.Picard, L.M.N., N.M.W., A.F., M.M.A. and M.C.-C. recruited and diagnosed the RD patients and provide materials for them. F.Calvo gave critical comments in designing the experiments and helped to sequence the healthy and pathological samples. C.Petit contributed to the design of the inner ear experiments, F.Candotti designed and coordinated the sequencing project. C. Picard and L.A. performed the Lodscore analysis. L.A. and A.F. contributed equally to this study. M.C.-C. supervised the overall project. M.C.-C., C.L.-P., E.M.S L.A. and A.F. wrote the paper and added the comments from all authors. Author information: All authors declare that there is no competing financial interests. Reprints and permissions information is available at npg.nature.com/reprintsandpermissions. Correspondence and requests for materials should be addressed to Marina Cavazzana-Calvo (m.cavazzana@nck.aphp.fr). NIH Public Access Author ManuscriptNat Genet. Author manuscript; available in PMC 2010 January 1. Published in final edited form as:Nat Genet. We have identified biallelic mutations in the adenylate kinase 2 (AK2) gene in seven patients affected with RD. These mutations resulted in the absence or a strong decrease in protein expression. We then demonstrated that restoration of AK2 expression in the bone marrow cells of RD patients overcomes the neutrophil differentiation arrest underlining its specific requirement in the development of a restricted set of haematopoietic lineages. Lastly, we established that AK2 is specifically expressed in the stria vascularis region of the inner ear, which provides an explanation to the sensorineural deafness. These results suggest a novel mechanism regulating haematopoetic cell differentiation, and involved in one of the most severe human immunodeficiency syndromes.The term "reticular dysgenesis" (RD), was coined in 1959 by de Vall and Seyneheve 1 and relates to the histological findings in primary and secondary lymphohaematopoietic organs, where the scarcity of cells highlights the prominent reticular tissue framework. The lack of polymorphonuclear neutrophils (PMNs) in affected patien...

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Postpartum HLA-Matched Bone Marrow Donation from Mother to Neonate for Reticular Dysgenesis

et al. 2016

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Successful cord blood transplantation in a premature and dysmature neonate of 1700 g with reticular dysgenesis

Cited by 7 publications

References 9 publications

Recent advances in understanding the pathogenesis and management of reticular dysgenesis

Recent advances in understanding the pathogenesis and management of reticular dysgenesis

Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness

Postpartum HLA-Matched Bone Marrow Donation from Mother to Neonate for Reticular Dysgenesis

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