Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency
증례 보고서: 공통 변수 면역 결핍으로 나타나는 X-연관 SASH3 결핍
Case Reports
[키워드] age
Autoimmune
B cell
bilateral pneumonia
CD4
CD8
cells
combined immunodeficiency
common
common variable immunodeficiency
CVID
deficiency
described
diagnosed
dysregulation
elevated
Genetic testing
genetics
Haemophilus influenzae
Haemophilus influenzae type b
humans
IgG and IgM
immune dysregulation
Immunity
immunodeficiency
immunological phenotype
Inborn errors
inborn errors of immunity
Infection
infections
Influenza
influenza infection
loss-of-function
lymphopenia
memory B cells
mucosal
Mutation
naïve T cells
Patient
patients
phenotype
polysaccharide
primary immunodeficiencies.
proliferation
Protein
reduced
reported
RNA
SARS-CoV-2
SASH3
SASH3 deficiency
Signaling
Streptococcus pneumoniae
survival
T cell
T cell activation
T cells
T-cell
TCR
Vaccine
variable
variant
varicella
Varicella zoster virus
viral infection
viral infections
virus
X-linked
[DOI] 10.3389/fimmu.2022.881206 PMC 바로가기 [Article Type] Case Reports
[DOI] 10.3389/fimmu.2022.881206 PMC 바로가기 [Article Type] Case Reports