Analysis of Clinical and Immunologic Phenotype in a Large Cohort of Children and Adults with Cartilage-hair Hypoplasia

In our cohort of individuals with cartilage-hair hypoplasia 1) over 25% of patients manifest clinical combined immunodeficiency and they have lower CD3+, CD8+ and recent thymic emigrant counts; 2) specific antibody deficiency may exist; 3) low IgG2 levels associate with severe varicella.

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