Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome

Reticular dysgenesis (RD) is a rare congenital disorder defined clinically by the combination of severe combined immunodeficiency (SCID), agranulocytosis, and sensorineural deafness. Mutations in the gene encoding adenylate kinase 2 were identified to cause the disorder. Hematopoietic stem cell tran...

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Bibliographic Details
Published in:Blood 2017-05, Vol.129 (21), p.2928-2938
Main Authors: Hoenig, Manfred, Lagresle-Peyrou, Chantal, Pannicke, Ulrich, Notarangelo, Luigi D., Porta, Fulvio, Gennery, Andrew R., Slatter, Mary, Cowan, Morton J., Stepensky, Polina, Al-Mousa, Hamoud, Al-Zahrani, Daifulah, Pai, Sung-Yun, Al Herz, Waleed, Gaspar, Hubert B., Veys, Paul, Oshima, Koichi, Imai, Kohsuke, Yabe, Hiromasa, Noroski, Lenora M., Wulffraat, Nico M., Sykora, Karl-Walter, Soler-Palacin, Pere, Muramatsu, Hideki, Al Hilali, Mariam, Moshous, Despina, Debatin, Klaus-Michael, Schuetz, Catharina, Jacobsen, Eva-Maria, Schulz, Ansgar S., Schwarz, Klaus, Fischer, Alain, Friedrich, Wilhelm, Cavazzana, Marina
Format: Article
Language:English
Subjects:
Adenylyl Cyclases - genetics
Adenylyl Cyclases - metabolism
Adolescent
Adult
Age of Onset
Allografts
Child
Cord Blood Stem Cell Transplantation
Disease-Free Survival
Female
Hematopoietic Stem Cell Transplantation
Humans
Leukopenia - enzymology
Leukopenia - genetics
Leukopenia - mortality
Leukopenia - therapy
Male
Severe Combined Immunodeficiency - enzymology
Severe Combined Immunodeficiency - genetics
Severe Combined Immunodeficiency - mortality
Severe Combined Immunodeficiency - therapy
Survival Rate
Transplantation
Transplantation Conditioning
Unrelated Donors
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Summary:Reticular dysgenesis (RD) is a rare congenital disorder defined clinically by the combination of severe combined immunodeficiency (SCID), agranulocytosis, and sensorineural deafness. Mutations in the gene encoding adenylate kinase 2 were identified to cause the disorder. Hematopoietic stem cell transplantation (HSCT) is the only option to cure this otherwise fatal disease. Retrospective data on clinical presentation, genetics, and outcome of HSCT were collected from centers in Europe, Asia, and North America for a total of 32 patients born between 1982 and 2011. Age at presentation was
ISSN:0006-4971
1528-0020
DOI:10.1182/blood-2016-11-745638