2.3 | Diagnostic methods
XHIGM was diagnosed based on the clinical characteristics and genetic test results of the patients according to the updated classification of primary immunodeficiency disorders (PIDs) by the Primary Immunodeficiency Expert Committee of the International Union of Immunological Societies 10. Selective PID panel testing (MyGenostics, Inc., China), a molecular diagnosis system based on targeted region sequencing of candidate genes, was performed on our patients.
Nasopharyngeal swab and sputum, bronchoalveolar lavage fluid (BALF), pleural fluid, and/or serum samples were collected for tests including immunofluorescence staining, antigen and antibody tests, nucleic acid detection, and bacterial culture. Pathogen high-throughput genome sequencing (KingMed Diagnostics, Inc., China) of BALF was performed in four patients to screen for bacteria, viruses, fungi, parasites,Mycobacterium tuberculosis complex, Mycoplasma , andChlamydia .