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Journal of Clinical Immunology
Published in: Journal of Clinical Immunology 3/2018

01-04-2018 | Letter to Editor

Combined Immunodeficiency with Ring Chromosome 21

Authors: Melissa Norman, Brynn Wainstein, Antoinette Anazodo, Anne Turner, Cindy Ma, Kathryn Payne, Stuart G. Tangye, Paul Gray

Published in: Journal of Clinical Immunology | Issue 3/2018

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Excerpt

To the Editor, …
Literature
1.
Dalgleish R, Duckett D, Woodhouse M, et al. Apparent momosomy 21 owing to a ring 21 chromosome: parental origin revealed by DNA analysis. J Med Genet. 1988;25(12):851–4.CrossRefPubMedPubMedCentral
2.
Ohga S, Nakao F, Narazaki O, Fusazaki N, Aoki T, Kamesaki K, et al. Hypogammaglobulinaemia in a patient with ring chromosome 21. Arch Dis Child. 1997;77:252–4.CrossRefPubMedPubMedCentral
3.
Pardal-Fernandez J, Garcia P, Carrascosa R, et al. Chromosome 21 ring (r21) and epilepsy. An Paediar (Barc). 2004;60(4):379–81.CrossRef
4.
Rechavi E, Levy-Mendelovich S, Stauber T. Combined immunodeficiency in a patient with mosaic monosomy 21. Immunol Res. 2016;64:841–7.CrossRefPubMed
5.
Grimbacher B, Hutloff A, Schlesier M. Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. Nat Immunol. 2003;4(3):261–8.CrossRefPubMed
6.
Karczewski K, Weisburd B, Thomas B, et al. The ExAC browser: displaying reference data information from over 60 000 exomes. Nucleic Acids Res. 2017;45(D1):D840–D5.CrossRefPubMed
7.
Metadata
Title
Combined Immunodeficiency with Ring Chromosome 21
Authors
Melissa Norman
Brynn Wainstein
Antoinette Anazodo
Anne Turner
Cindy Ma
Kathryn Payne
Stuart G. Tangye
Paul Gray
Publication date
01-04-2018
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 3/2018
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-018-0493-z

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