PMC8252363_01
The portion of TCRalphabeta + CD4 / CD8 double-negative T cell touch the diagnose criteria of ALPS.
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PMC8252363_01_10.1177_20587384211025934-fig1.jpg
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TCRalphabeta + CD4/CD8 double-negative T cells (DNTs) (Figure 1). The age of disease onset and diagnosis was 6 and 10 years old respectively.
Pedigree of patient. Parents admit that they are intermarriage. The patient and his sister are homozygous for this change.
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PMC8252363_01_10.1177_20587384211025934-fig2.jpg
fig2-20587384211025934
The variant was not found in dbSNP database or ExAC database (Figure 2).