The patient (P-08) with a pathogenic CXCR4 mutation (NM_003467.2:c.966_967del, p.(R326fs)) showed permanent neutropenia, several neutropenic fever events with or without infections, inguinal hernia, incomplete cleft lip and serum IgG and IgA deficiencies. This evidence concerns the gene CXCR4 and Decreased total neutrophil count.