Journal of Clinical Immunology

, Volume 38, Issue 3, pp 251–256 | Cite as

Combined Immunodeficiency with Ring Chromosome 21

  • Melissa Norman
  • Brynn Wainstein
  • Antoinette Anazodo
  • Anne Turner
  • Cindy Ma
  • Kathryn Payne
  • Stuart G. Tangye
  • Paul Gray
Letter to Editor

To the Editor,

Ring chromosome 21 or mosaic monosomy 21 is a rare complex chromosomal deletion syndrome. Patients present with dysmorphism, neurological sequelae including microcephaly, hypertonia, and seizures, thrombocytopenia, and intellectual impairment. There is also an association with myelodysplasia, leukemia, and lymphomas.

There have also been exceedingly rare reports of immunodeficiency associated with ring or mosaic monosomy chromosome 21. Among several hundred reported cases of these chromosomal anomalies, there are three cases of humoral immunodeficiency and a single case of combined immunodeficiency. Here, we report a further child with features of combined immunodeficiency and review the literature, in order to highlight this emerging immunodeficiency syndrome.

The patient is a 5-year-old girl, the third child of non-consanguineous, Caucasian parents. A genetic diagnosis of monosomy 21 was made antenatally. Fluorescent in situ hybridization (FISH) analysis at birth...


Compliance with Ethical Standards

Conflict of Interest

The authors declare that they have no conflict of interest.


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of ImmunologySydney Children’s HospitalSydneyAustralia
  2. 2.University of New South WalesSydneyAustralia
  3. 3.School of Women and Children’s Health, Faculty of MedicineUNSWSydneyAustralia
  4. 4.Kids Cancer CentreSydney Children’s HospitalSydneyAustralia
  5. 5.Nulune Comprehensive Cancer CentrePrince of Wales HospitalSydneyAustralia
  6. 6.Clinical GeneticsSydney Children’s HospitalSydneyAustralia
  7. 7.Royal Hospital for WomenSydneyAustralia
  8. 8.Immunology DivisionGarvan Institute of Medical ResearchDarlinghurstAustralia
  9. 9.St Vincent’s Clinical SchoolUniversity of New South WalesDarlinghurstAustralia

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