Abstract
X-LA is a syndrome of males, characterized by early onset of recurrent pyogenic infections, markedly diminished or undetectable serum immunoglobulins, depressed or absent humoral immune responses. Intact cellular immunity, and lymphoid tissues devoid of plasma cells, germinal centers, and follicle formation. Rigorous criteria include other affected male maternal relatives.
We have evaluated 11 boys with presumptive X-LA, from 6 unrelated families. Three families each had only one affected individual, although fulfilling the criteria in all other respects. Three families had at least one affected nephew maternal-uncle pair. In one of these, both affected relatives had no B-cell function. In the other two, the uncles had classic X-LA, including failure to clear antigen (øX 174) or make antibody, and lymphoblastoid cell lines (LCL) could not be induced with Epstein-Barr virus. The affected nephews, however, had typical variable immunodeficiency: immunoglobulins were low, not absent; circulating B-lymphocytes were present (in decreased numbers), and a low but measurable antibody response, including memory was demonstrable. In one nephew an LCL with male karyotype and B-cell characteristics was established. Mothers of the affected males were immunologically normal. These findings demonstrate a variable expression of the B-cell defect in X-LA. Indeed since sex-linked inheritance remains unproven, perhaps other mechanisms of pathogenesis, inheritance and expression deserve consideration.
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Ochs, H., Sullivan, J. & Wedgwood, R. VARIABLE EXPRESSION OF “X-LINKED INFANTILE AGAMMA-GLOBULINEMIA” (X-LA). Pediatr Res 11, 491 (1977). https://doi.org/10.1203/00006450-197704000-00725
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DOI: https://doi.org/10.1203/00006450-197704000-00725