Figure 2.
Remarkable diagnosis established by the initial analysis of the CNE3i project. A: Diffuse cutaneous pustulosis affecting a DIRA patient carrying the known homozygous c.213_227del; p.Asp72_Ile76del variant in the IL1RN gene. B: Diffuse and generalized paracoccidioidomycosis lymphadenopathy in a patient with a novel compound heterozygous variant in the DOCK8 gene (c.3209A>G; p.Asn1070Ser and c.2554G>A; p.Val852Met). C: An adult patient with a 24-year history of unexplained fever and severe neurological impairment, who carries a homozygous variant in the RNASEH2B gene (c.529G>A; p.Ala177Thr). D: Erythematous eyelash nodules in a patient with CANDLE syndrome harboring a novel homozygous mutation affecting the PSMB8 gene (c.280G>C; p.Ala94Pro).