Combined Immunodeficiency with Ring Chromosome 21

Melissa Norman; Brynn Wainstein; Antoinette Anazodo; Anne Turner; Cindy Ma; Kathryn Payne; Stuart G Tangye; Paul Gray

doi:10.1007/s10875-018-0493-z

Combined Immunodeficiency with Ring Chromosome 21

J Clin Immunol. 2018 Apr;38(3):251-256. doi: 10.1007/s10875-018-0493-z. Epub 2018 Apr 15.

Authors

Melissa Norman^{1

2}, Brynn Wainstein^{3

4}, Antoinette Anazodo^{5

6

7}, Anne Turner^{4

8

9}, Cindy Ma^{10

11}, Kathryn Payne¹⁰, Stuart G Tangye^{10

11}, Paul Gray^{3

4}

Affiliations

¹ Department of Immunology, Sydney Children's Hospital, Sydney, NSW, 2031, Australia. [email protected].
² University of New South Wales, Sydney, NSW, 2052, Australia. [email protected].
³ Department of Immunology, Sydney Children's Hospital, Sydney, NSW, 2031, Australia.
⁴ University of New South Wales, Sydney, NSW, 2052, Australia.
⁵ School of Women and Children's Health, Faculty of Medicine, UNSW, Sydney, NSW, 2052, Australia.
⁶ Kids Cancer Centre, Sydney Children's Hospital, Sydney, NSW, 2031, Australia.
⁷ Nulune Comprehensive Cancer Centre, Prince of Wales Hospital, Sydney, NSW, 2031, Australia.
⁸ Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, 2031, Australia.
⁹ Royal Hospital for Women, Sydney, NSW, 2031, Australia.
¹⁰ Immunology Division, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.
¹¹ St Vincent's Clinical School, University of New South Wales, Darlinghurst, NSW, Australia.

PMID: 29656336
DOI: 10.1007/s10875-018-0493-z

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Biomarkers
Child, Preschool
Chromosomes, Human, Pair 21 / genetics
Facies
Female
Genetic Association Studies
Genetic Predisposition to Disease
Humans
Immunologic Deficiency Syndromes / complications
Immunologic Deficiency Syndromes / diagnosis*
Immunologic Deficiency Syndromes / genetics*
In Situ Hybridization, Fluorescence
Infections / etiology
Karyotyping
Phenotype
Ring Chromosomes
Ultrasonography

Substances

Biomarkers

Supplementary concepts

Chromosome 21 ring