Figure 1.

Genetic and clinical features of CN. (A) A total of 56 cases had a clearly identified causative gene. Among these, 36 had mutations in the ELANE gene, which included SCN1 (n = 32, 57.14%) and CyN (n = 4, 7.14%). The remaining 20 patients had mutations in other genes, which included SBDS (n = 8, 14.29%), CXCR4 (n = 5, 8.93%), HAX1 (n = 4, 7.14%), and WAS, G6PC3, SPR54 with 1 patient each (each accounting for 1.79%). (B) Location of the mutations on the ELANE, HAX1, CXCR4, and SBDS proteins. Each dot represents a case with that particular mutation. Highlighted in red are novel mutations. On the ELANE protein, mutations higher on the diagram are associated with SCN and those lower with CyN. (C) This panel shows the tissues/organs infected or types of infectious agents involved in the medical history of patients in these 5 groups. Red squares indicate a history of infection at the specific site or with the pathogen; White squares denote no reported infection at the site or with the pathogen. BH1 and BH2, Bcl-2 protein homology domains; FYSH, Fungal, Yhr087w, and Shwachman domains; HTH, helix-turn-helix domain; PEST, region rich in proline (P), glutamic acid (E), serine (S), and threonine (T); RRM, RNA recognition motif; TM, transmembrane-like domain.