Objective  To explore the clinical features of chronic granulomatous diseases and Mcleod syndrome caused  by continuous X chromosome deletion. Methods The clinical data of two children diagnosed as chronic granulomatous  disease and Mcleod syndrome by gene detection were retrospectively analyzed. Results Two males, 4 year 1 month and 1  year 9 month old, were both hospitalized due to persistent pulmonary infections. Both of them had a history of repeated severe  infections and BCG vaccine associated lymphadenitis, and were diagnosed as X-linked chronic granulomatous disease for  respiratory burst defects and deletion of all CYBB exons. Both of them had retarded motor development, and were diagnosed  as DMD for detection of DMD gene exons and muscle specific promoter region and exon 1-2 deletion by MLPA. One case  was found with obvious echinocytes, the other case showed whole exons deletion of XK gene. Both of them were diagnosed as  Mcleod syndrome. Conclusion Continuous X chromosome deletion could lead to combination of Mcleod syndrome, DMD,  and X-CGD, which may complicate the condition. Due to the lack of Kx antigen, repeated common blood transfusion can  produce relative antibody, which lead to severe hemolytic crisis.