… In conclusion, bronchoscopy and pathological results all met the diagnostic criteria of TBO.
In terms of treatment, doctor’s advice was rest and to have periodic review of lung function …

… Diagnosis of CGD involves the granulocyte function assays and gene mutation analysis.
X-linked CGD (XL-CGD) caused by gene defects of CYBB is the most prevalent type of CGD. …

… and understanding of the disease. Methods: A retrospective … atypical severe combined
immunodeficiency disease have a … Genetic testing provides an important basis for the diagnosis …

… Mutations in PIK3R1 as a regularity subunit cause primary immunodeficiencies, especially
… facilitated experimental identification of new diagnostic biomarkers and the development of …

… of primary immunodeficiency disease caused by Tyk 2 gene … IgE, immunodeficiency disease
caused by Tyk2 gene defection … Gene sequence analysis can assist in early diagnosis. …

… 原发性免疫缺陷病(primary immunodeficiency disease, PID),qRT-PCR在… diagnosis. EDA-ID
can be diagnosed early by combining the integrity test of IL-12/IFN-γ axis and genetic analysis…

… Methods A retrospective analysis was performed on the diagnosis of intractable … mutations
in SFTPC gene. There were two cases of primary immunodeficiency disease, including one …

… [摘要] 目的:分析4 种原发性免疫缺陷病(primary immunodeficiency disease, PID)的… diagnose
these four PID diseases. Methods: A retrospecr tive analysis was performed on 87 patients …

… , thrombocytopenia, and immunodeficiency. For neonatal with … WASP gene analysis should
be performed to diagnose WAS. … syndrome; an x-linked primary immunodeficiency disease …

… E1021K), which confirmed the diagnosis of APDS1. The child … is a rare primary
immunodeficiency disease characterized by … Clinical and genetic analysis for activated PI3K-δ …