Abstract
XLA patients have a defect of B cell maturation involving the pre B to B cell stages. This block is not absolute since circulating immunoglobulin (Ig) B cells may be found in XLA. To evaluate B cell function in XLA, we studied 37 patients, including 31 from 13 families with multiple affected members. Sera from 33 untreated patients contained measurable IgG, 26 exceeding 200 mg%; IgG subclasses were proportionally diminished. IgM, at low concentrations, was detected in 27; IgA1 and IgA2 in 7, and IgA1 only in 1 patient. Following immunization with bacteriophage øX 174, 13 failed to clear antigen and to produce antibody (Ab), 2 cleared phage without making detectable Ab. Of the 22 with low Ab titers, 9 switched from IgM to IgG (IgG1-3) after repeated immunization. Six of the 13 families with multiple affected members showed discordance in their response: some did, others did not clear phage and make Ab, correlating with the number of circulating B cells. EBV induced lymphoblastoid cell lines (LCL) obtained, with difficulty, from 14/19 patients were analyzed for Ig synthesis: 7 LCL synthesized IgM, and 1 IgA1. Six LCL produced both IgM and IgG; 4 IgG subclasses were present in 1 LCL, IgG1-3 in 3 LCL, IgG1 and 3 in 2 LCL, IgG1 and 2 in 1 LCL. The amount of Ig produced was significant, although 6/14 LCL produced only 5-10% of control LCL, the quantity being highest for IgM, followed by IgG3>IgG1 >IgG2>IgG4. In contrast, mitogen stimulated peripheral blood mononuclear cells produced predominantly IgG (80% of cultures); IgM was found in only 10% and IgA in none. These studies demonstrate a broad spectrum of B cell defects in XLA, often variably expressed in members of the same family. B cells, although markedly restricted in number and function, were demonstrated in every XLA patient suggesting a broad defect of B cell maturation and differentiation into Ig synthesizing cells.
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Pyun, K., Ochs, H., Yang, X. et al. VARIABLE EXPRESSION OF B CELL FUNCTION IN FAMILIES WITH X-LINKED AGAMMAGLOBULINEMIA (XLA). Pediatr Res 21 (Suppl 4), 316 (1987). https://doi.org/10.1203/00006450-198704010-00894
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DOI: https://doi.org/10.1203/00006450-198704010-00894