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 .