Autoimmune cytopenias in the 22q11.2 deletion syndrome

J K Davies; P Telfer; J D Cavenagh; N Foot; M Neat

doi:10.1046/j.1365-2257.2003.00508.x

Autoimmune cytopenias in the 22q11.2 deletion syndrome

Clin Lab Haematol. 2003 Jun;25(3):195-7. doi: 10.1046/j.1365-2257.2003.00508.x.

Authors

J K Davies¹, P Telfer, J D Cavenagh, N Foot, M Neat

Affiliation

¹ Department of Haematology, Barts and the London Trust, London, UK. j.davies@rfc.ucl.ac.uk

PMID: 12755799
DOI: 10.1046/j.1365-2257.2003.00508.x

Abstract

We describe two cases of recurrent autoimmune cytopenias, which were subsequently diagnosed with a 22q11.2 deletion/DiGeorge syndrome. The cases are of particular interest as both possessed limited clinical features of this syndrome, and the investigation of haematological abnormalities led to the establishment of a definitive genetic diagnosis.

MeSH terms

Anemia, Hemolytic, Autoimmune / genetics*
Autoimmune Diseases / diagnosis
Autoimmune Diseases / genetics
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 22*
Cytogenetic Analysis
DiGeorge Syndrome / diagnosis*
Female
Humans
Infant, Newborn
Male
Pancytopenia / diagnosis
Pancytopenia / genetics*
Pancytopenia / immunology*
Syndrome