Familial hypogammaglobulinemia with variable serum immunoglobulins. Concordance with lymphocyte ecto-5'-nucleotidase deficiency
K. C. Rich, H. Sampson, L. N. Edwards and I. H. Fox
Four male subjects from two generations of a black family were found to
have variable expression of hypogammaglobulinemia (IgG, IgM, and IgA
deficiency in two, IgA deficiency in one, and IgM and IgA deficiency in
another) and also to be moderately deficient in the lymphocyte plasma
membrane enzyme, 5'-nucleotidase. The inheritance pattern of the immune
abnormality is compatible with X linkage. The affected patients had normal
numbers of complement receptor-bearing lymphocytes, variably depressed
proportions of IgM- and IgD-bearing lymphocytes, and impaired ability to
synthesize antibody after specific antigenic stimulation. In this family,
the 5'-nucleotidase deficiency and the pattern of inheritance suggest that
the different types of hypogammaglobulinemia may represent a variable
expression of a common underlying genetic abnormality.