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However, the fundamental role of CD4 itself remains enigmatic. We report seven patients aged 5\u201361 years from five families of four ancestries with autosomal recessive CD4 deficiency and a range of infections, including recalcitrant warts and Whipple\u2019s disease. All patients are homozygous for rare deleterious CD4 variants impacting expression of the canonical CD4 isoform. A shorter expressed isoform that interacts with LCK, but not HLA class II, is affected by only one variant. All patients lack CD4+ T cells and have increased numbers of TCR\u03b1\u03b2+CD4\u2212CD8\u2212 T cells, which phenotypically and transcriptionally resemble conventional Th cells. Finally, patient CD4\u2212CD8\u2212 \u03b1\u03b2 T cells exhibit intact responses to HLA class II\u2013restricted antigens and promote B cell differentiation in vitro. 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