Clinical and laboratory findings in eight patients with childhood common variable
immunodeficiency and autoimmune disease are described. Six of the eight patients had
initial signs of the disease, persistent secretory diarrhea, recurrent upper respiratory
tract infections, or both, in the first year of life. Autoimmune manifestations included
idiopathic thrombocytopenia (4/8), hemolytic anemia (3/8), secretory diarrhea (4/8),
arthritis (2/8), chronic active hepatitis (2/8), parotitis (2/8), and Guillain-Barré
syndrome (2/8). In addition to the expected sinusitis, otitis, and pneumonia caused
by encapsulated bacteria, these patients also had severe infections with viruses of
the herpes group. Most of these patients had lymphadenopathy, splenomegaly, growth
failure, and failure to develop secondary sexual characteristics. Laboratory studies
demonstrated a significant increase in the ratio of T cells expressing the T helper
phenotype (OKT4) to T cells expressing the T suppressor-cytotoxic phenotype (OKT8)
(T4/T8). This increase could be attributed to a decrease in the absolute number of
T8 cells. Additional findings included fluctuating levels of serum immunoglobulins
and markedly diminished in vitro antibody production by B cells. The clinical course
was relapsing and remitting, and dominated by the autoimmune manifestations of the
disease. This group of patients constitutes a distinct subset of children with hypogammaglobulinemia,
a subset with a complex, multisystemic disorder associated with significant morbidity
and mortality.