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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

Excerpt

To the Editor, …

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

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

Pardal-Fernandez J, Garcia P, Carrascosa R, et al. Chromosome 21 ring (r21) and epilepsy. An Paediar (Barc). 2004;60(4):379–81.CrossRef

Rechavi E, Levy-Mendelovich S, Stauber T. Combined immunodeficiency in a patient with mosaic monosomy 21. Immunol Res. 2016;64:841–7.CrossRefPubMed

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

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

Lek M, Karczewski K, Minikel E, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016;536:285–91.CrossRefPubMedPubMedCentral

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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