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-Reference-Cited by-同舟云学术

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

Published:2018-06-29 Issue:5 Volume:38 Page:546-549
ISSN:0271-9142
Container-title:Journal of Clinical Immunology
language:en
Short-container-title:J Clin Immunol

Author:

Carden Marcus A.^ORCID,Connelly James A.,Weinzierl Elizabeth P.,Kobrynski Lisa J.,Chandrakasan Shanmuganathan

Publisher

Springer Science and Business Media LLC

Subject

Immunology,Immunology and Allergy

Link

http://link.springer.com/article/10.1007/s10875-018-0518-7/fulltext.html

Reference10 articles.

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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.

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

4. 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.

5. 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.

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