CD4+ CD31+ recent thymic emigrants in CHD7 haploinsufficiency (CHARGE syndrome): a case

Kristian Assing, Christian Nielsen, Eva Maria Kirchhoff, Hans Madsen, Lars P. Ryder, Niels Fisker

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Lymphocyte counts <2000cells/μL are associated with early death in infants with CHARGE (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness) syndrome and CHD7 haploinsufficiency. Absence of recent thymic emigrants is also accompanied by an Omenn-like syndrome and infant death in CHD7 haploinsufficiency. Studies positively identifying recent thymic emigrants, in relation to CHD7 haploinsufficiency, are non-existent. Thirty two months of flow-cytometric work-up of an athymic (evaluated by four chest X-rays) infant, with a novel CHD7 deletion, demonstrated sparse (<50cells/mm 3) but continuous egress of recent thymic emigrants (CD3 + CD4 + CD45RA + CD45RO - CD31 +) and homeostatic lymphocyte expansion. Infectious or autoimmune episodes (e.g., Omenn-like syndrome) were not detected (despite lymphocyte counts <2000cells/μL) and excellent vaccination (tetanus, Haemophilus influenzae type B and pneumococcal conjugate vaccines) and proliferation (anti-CD3 and anti-CD28 stimulated) responses were recorded. Her CD4 + T cells displayed Gaussian distributed TCR (CDR3) spectratypes (22 functional Vβ families). Her CD4 + T cell profile was also characterized by a slightly increased proportion CD4 + CD25 + FoxP3 + T cells. Since CD3 + CD4 + CD45RA + CD45RO - CD31 + RTE are reported to be TCR diverse and to contain regulatory T cells, we found it important to report that continuously reduced numbers of CD3 + CD4 + CD45RA + CD45RO - CD31 + RTE, in the context of CHD7 haploinsufficiency and despite severe lymphopenia, is consistent with an uneventful clinical outcome.

Original languageEnglish
JournalHuman Immunology
Issue number9
Pages (from-to)1047-1050
Publication statusPublished - 2013


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