Autoimmune cytopenias in the 22q11.2 deletion syndrome.
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.
Davies
J K
JK
Department of Haematology, Barts and the London Trust, London, UK. j.davies@rfc.ucl.ac.uk
Telfer
P
P
Cavenagh
J D
JD
Foot
N
N
Neat
M
M
D000744:Anemia, Hemolytic, Autoimmune / Q000235:genetics*; D001327:Autoimmune Diseases / Q000175:diagnosis / Q000235:genetics; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D020732:Cytogenetic Analysis; D004062:DiGeorge Syndrome / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010198:Pancytopenia / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology*; D013577:Syndrome