Complement factor I deficiency associated with recurrent meningitis coinciding with menstruation

dBackground: Complement (C) factor I deficiency is a rare immunodeficiency state frequently associated with recurrent pyogenic infections in early inf ancy. This deficiency causes a permanent uncontrolled activation of the alt ernative pathway resulting in massive consumption of C3. Patient: A 23-year-old woman with monthly recurrent meningitis episodes, mo stly in the perimenstrual period, since August 1999. Previously, at age 16 years, she had meningococcal sepsis, also coinciding with menstruation. Objectives: To study the patient and her family to elucidate the molecular defects in the pedigree and to evaluate her clinical evolution. Results: We describe clinical, immunological, and treatment follow-up durin g this period. First, we characterized the existence of a total complement factor I deficiency defined by undetectable levels by enzyme immunosorbent assay. This total deficiency was also found in her sister. Her parents and brother had approximately half of the normal levels. In addition, the patie nt had vary low levels of C3; factor B and an important reduction of factor H, properdin, C5, C7, and C8 complement components. Additional studies in the patient's sera evidenced high levels of immune complexes containing Clq and immunoglobulin (Ig) G, as well as C3b/factor H, C3b/properdin, C3b/IgG , and properdin/IgG complexes. Treatment with prophylactic antibiotics, ant iestrogen medication, plasma infusions, or intravenous immunoglobulin has b een unsuccessful in avoiding consecutive meningitis episodes. Conclusion: For the first time to our knowledge, these data present an unus ual relationship between meningitis episodes and menstruation in factor I i mmunodeficiency.