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Journal of Clinical Immunology
Published in: Journal of Clinical Immunology 5/2018

01-07-2018 | Letter to Editor

Severe Congenital Neutropenia associated with SRP54 mutation in 22q11.2 Deletion Syndrome: Hematopoietic Stem Cell Transplantation Results in Correction of Neutropenia with Adequate Immune Reconstitution

Authors: Marcus A. Carden, James A. Connelly, Elizabeth P. Weinzierl, Lisa J. Kobrynski, Shanmuganathan Chandrakasan

Published in: Journal of Clinical Immunology | Issue 5/2018

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Excerpt

To The Editor: …
Literature
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McDonald-McGinn DM, Sullivan KE. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/Velocardiofacial syndrome). Medicine. 2011;90:1–18.CrossRefPubMed
2.
McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman J, et al. 22q11.2 deletion syndrome. Nat Rev Dis Primers. 2015;1:1–19.
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Tison BE, Nicholas SK, Abramson SL, Hanson IC, Paul ME, Seeborg FO, et al. Autoimmunity in a cohort of 130 pediatric patients with partial DiGeorge syndrome. J Allergy Clin Immunol. 2011;128:1115–6.CrossRefPubMed
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Carapito R, Konantz M, Paillard C, Miao Z, Pichot A, Leduc MS, et al. Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features. J Clin Invest. 2017;127:4090–4103.CrossRefPubMedPubMedCentral
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Okou DT, Mondal K, Faubion WA, Kobrynski LJ, Denson LA, Mulle JG, et al. Exome sequencing identifies a novel FOXP3 mutation in a 2-generation family with inflammatory bowel disease. J Pediatr Gastroenterol Nutr. 2014;58:561–8.CrossRefPubMedPubMedCentral
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McMurchy AN, Levings MK. Suppression assays with human T regulatory cells: a technical guide. Eur J Immunol. 2012;42:27–34.CrossRefPubMed
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Janda A, Sedlacek P, Honig M, Friedrich W, Champagne M, Matsumoto T, et al. Multicenter survey on the outcome of transplantation of hematopoietic cells in patients with the complete form of DiGeorge anomaly. Blood. 2010;116:2229–36.CrossRefPubMedPubMedCentral
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Kojima D, Muramatsu H, Okuno Y, Kataoka S, Murakami N, Tanahashi Y, et al. Successful T-cell reconstitution after unrelated cord blood transplantation in a patient with complete DiGeorge syndrome. J Allergy Clin Immunol. 2016;138:1471–3.CrossRefPubMed
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Davies EG, Cheung M, Gilmour K, Maimaris J, Curry J, Furmanski A, et al. Thymus transplantation for complete DiGeorge syndrome: European experience. J Allergy Clin Immunol. 2017;140:1660–70.CrossRefPubMedPubMedCentral
Metadata
Title
Severe Congenital Neutropenia associated with SRP54 mutation in 22q11.2 Deletion Syndrome: Hematopoietic Stem Cell Transplantation Results in Correction of Neutropenia with Adequate Immune Reconstitution
Authors
Marcus A. Carden
James A. Connelly
Elizabeth P. Weinzierl
Lisa J. Kobrynski
Shanmuganathan Chandrakasan
Publication date
01-07-2018
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 5/2018
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-018-0518-7

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