DiGeorge syndrome

22q11.2 vs DiGeorge syndrome?

22q11.2 deletion syndrome is also commonly referred to as DiGeorge syndrome (though there are other historical names for the chromosomal deletion – like velocardiofacial syndrome – depending upon the varying symptoms). According to our genetic specialist, “Genetics typically classifies everyone with a 22q11 deletion as having ’22q11 deletion syndrome’. The name ‘DiGeorge syndrome’ is more historical and more narrowly defined than 22q11 deletion syndrome. Some with 22q11 deletion syndrome have no T cell abnormalities and therefore wouldn’t have ‘DiGeorge’ per the historical definition.” Due to Izzy’s immune deficiency, she does fall into the DiGeorge category, and a lot of the time, other people and other doctors are more familiar with this term.

There is also complete DiGeorge and partial DiGeorge. Partial refers to those with low, but not absent, T cells.

Summarized: When T cell abnormalities aka immune deficiencies are a 22q11.2 deletion syndrome symptom (say that 10 times fast), then immunologists refer to the condition as ‘DiGeorge’.