PMC9638093_01
LAD-I diagnosis in the patient. (A) Flow cytometric analysis of CD18, CD11b, and CD11c expression on peripheral blood neutrophils of the patient and healthy control. Percentages above the plots indicate the percent positive cells for each molecule, as gated by the bars in each plot. (B) Domains of CD18 and locations of the variants detected in the patient. (C) Sanger sequencing of identified ITGB2 variants. Letters above the plot indicate amino acids. HC, healthy control; SP, signal peptide; Psi, plexin-semaphorin-integrin; Hyb, hybrid; beta-I, I-like; E, integrin epidermal growth factor; beta-T, beta-tail; TM, transmembrane.
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Supplementary Figure 1 ). She was born to nonconsanguineous Vietnamese parents, and no family history of immunodeficiency was noted. CD11c, and CD18 on peripheral blood neutrophils was examined by flow cytometry. CD18 expression was significantly decreased, showing 1.1% of neutrophils were positive for CD18 expression ( Figure 1A ). CD11b and CD11c expression on the neutrophils also decreased. Two variants, namely c.533C>T, p.Pro178Leu and c.59-1G>A (NM_000211.5, NP_000202.3) in the ITGB2 gene, were identified ( Figure 1B ). Parenteral sequencing confirmed that the variants were compound heterozygous: c.533C>T and c.59-1G>A were inherited from her father and mother, respectively ( Figure 1C ).
HLA-haploidentical HCT. (A) Conditioning regimen and GVHD prophylaxis. (B) Flow cytometric analysis of CD18, CD11b, and CD11c expression on peripheral blood neutrophils of the patient on day +170 of HCT.
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Reduced-intensity conditioning (RIC) consisted of alemtuzumab 0.8 mg/kg IV (0.16 mg/kg for 5 days; days -14 to -10), fludarabine 180 mg/m2 IV (45 mg/m2 for 4 days; days -9 to -6), and area under the curve (AUC)-targeted busulfan IV (65 mg*h/L; days -5 to -2) ( Figure 2A ).