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Journal of Clinical Immunology

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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

Excerpt

To The Editor: …

McDonald-McGinn DM, Sullivan KE. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/Velocardiofacial syndrome). Medicine. 2011;90:1–18.CrossRefPubMed

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.

Notarangelo L. Primary immunodeficiencies. J Allergy Clin Immunol. 2010;125:S182–94.CrossRefPubMed

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

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

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

McMurchy AN, Levings MK. Suppression assays with human T regulatory cells: a technical guide. Eur J Immunol. 2012;42:27–34.CrossRefPubMed

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

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

10.

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

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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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

Excerpt

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