Intestinal Malabsorption
Intestinal malabsorption occurs in approximately 10% of patients. The intestinal malabsorption problem tends to improve on its own.
Hirschsprung Disease
Hirschsprung Disease occurs in approximately 10% of patients. Surgical intervention is often times necessary. Postoperative mortality rates are nearly 40%, due to severe enterocolitis-related septicemia and a compromised immune system.
Humoral immunity
Humoral immunity is typically compromised. Nearly 56% of younger children experience recurrent infections, especially respiratory tract infections. Children are unusually susceptible to chicken pox. In McKusick’s original study, 6 patients died due to fatal varicella pneumonia. Currently, Acyclovir is most often prescribed to treat the varicella. Patients have a predisposition to cancer, especially non-Hodgkin’s lymphoma and basal cell carcinoma. Again, this susceptibility is due to the compromised T-cell immunity.
Anemia
Anemia can occur in varying degrees in childhood. In anemic patients, decreased red blood cell proliferation is also observed. Most anemic patients recover spontaneously by adulthood; however fatal hypoplastic anemia can occur in infants. The prevalence of anaemia seems to correlate to the severity of the immunodeficiency and the degree of growth failure.