Severe T-cell lymphopenia in a patient with microduplication 22q11.2 identified by newborn screening

MeSH terms

• Chromosome Duplication
• Chromosomes, Human, Pair 22* / genetics
• DiGeorge Syndrome* / complications
• DiGeorge Syndrome* / diagnosis
• DiGeorge Syndrome* / genetics
• DiGeorge Syndrome* / immunology
• Female
• Humans
• Infant, Newborn
• Lymphopenia* / diagnosis
• Lymphopenia* / genetics
• Male
• Neonatal Screening*
• T-Lymphocytes* / immunology