Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype

Table 1 Patient’s immunophenotype assessed by flow cytometry: counts of B-lymphocytes, T lymphocytes with CD4+ helper and CD8+ cytotoxic subsets, and NK cells

T/B Lymphocytes and NK populations
	cells/μL	n.v. cells/μL	%	n.v. %
CD3+	816 cells/μL	700–4200	89.0	55–78
CD4+	112 cells/μL	500–2000	10.9	27–53
CD8+	416 cells/μL	300–1800	40.8	19–34
CD19+	3 cells/μL	200–1600	0.3	10–31
CD56+	66 cells/μL	90–900	8.1	4–26
CD3 + CD4-CD8-			37.3
CD4/CD8 ratio	0.26

ISSN: 1471-2350