Moreover, we identified three unrelated patients carrying biallelic mutations in ADA2. Patient P048 - who suffered from recurrent infections, pancytopenia, livedo reticularis and hypoalbuminemia - was found to carry a novel homozygous deletion resulting in a frameshift mutation and premature stop codon (c.68_71delAAGA; p.Phe23Serfs*7). The gene discussed is ADA2; the disease is infection.