As of<unk> 020, over<unk> 60 cases of DADA2 have been identified since the disease's discovery in<unk> 014. Since this disease is inherited in an autosomal recessive manner, men and women are equally likely to be diagnosed with DADA2. Based on computational analyses, the prevalence of DADA2 could be as high as 4 in 100,000. Generally, populations with high degrees of consanguinity or with founder variants have a higher prevalence of DADA2. For example, the Georgian-Jewish and Turkish populations are estimated to have a 1:10 and 1:500 likelihood of carrying the G47R mutation respectively. The R169Q variant is also more common in northern Europe, with a carrier frequency of 1:500.
Adenosine deaminase 2 deficiency
Adenosine deaminase deficiency
Adenine phosphoribosyltransferase deficiency
Adenosine monophosphate deaminase deficiency type 1
Guanidinoacetate methyltransferase deficiency
Galactose-1-phosphate uridylyltransferase deficiency
Aminoacylase 1 deficiency
Methylenetetrahydrofolate reductase deficiency