PMC6718460_01
Flow cytometric assessment of lymphocyte subsets in healthy control and in our patient (age matched) that show for our patient absence of B cells (CD19+), low CD8+ and NK cells.
fimmu-10-01955-g0001.jpg
PMC6718460_02_fimmu-10-01955-g0001.jpg
F1
CD19+ cells, low count of CD8+ lymphocytes, and reduced natural killer (NK) levels (Table 1, Figure 1). Classical and leaky forms of severe combined immunodeficiency were excluded by normal proliferation response of T cells to mitogens. T], p.Pro650Ser, inherited from both parents (Figure S1:Supplementary material section). This variant has not been described in the literature and is reported as rs558233705 with a low allele frequency in the Asian population in principal exome and genome databases (https://www.ncbi.nlm.nih.gov/snp/rs558233705#frequency_tab.
PMC6718460_02
Flow cytometric assessment of lymphocyte subsets in healthy control and in our patient (age matched) that show for our patient absence of B cells (CD19+), low CD8+ and NK cells.
fimmu-10-01955-g0001.jpg
PMC6718460_02_fimmu-10-01955-g0001.jpg
F1
CD19+ cells, low count of CD8+ lymphocytes, and reduced natural killer (NK) levels (Table 1, Figure 1). Classical and leaky forms of severe combined immunodeficiency were excluded by normal proliferation response of T cells to mitogens. T], p.Pro650Ser, inherited from both parents (Figure S1:Supplementary material section). This variant has not been described in the literature and is reported as rs558233705 with a low allele frequency in the Asian population in principal exome and genome databases (https://www.ncbi.nlm.nih.gov/snp/rs558233705#frequency_tab.
Representation of 73 patients reported in literature. 60% of patients (gray area) did not undergo complete immune characterization. 44% of patients who underwent immune characterization presented an immunological impairment (red area).
fimmu-10-01955-g0002.jpg
PMC6718460_02_fimmu-10-01955-g0002.jpg
F2
Flow cytometric analysis showed normal expression of BTK (Bruton tyrosine kinase) protein on monocytes (Figure S2:Supplementary Material section) and normal expression of wasp protein on lymphocytes and monocytes.