Chronic Granulomatous Disease Presenting with CD4 Lymphopenia

RATIONALE: We present a 27-year-old male with Chronic Granulomatous Disease (CGD) who was found to have CD4 lymphopenia and also low levels of testosterone. METHODS: Our patient was diagnosed with X-linked CGD at 3 weeks of age, presenting with osteomyelitis. His developmental history was normal, and his past medical history includes Aspergillus pneumonia, allergic rhinitis and asthma. Chest CT is consistent with past fungal infection. He takes inhaled salmeterol and fluticasone for respiratory symptoms, and receives gamma-interferon, posaconazole and trimethoprim/sulfamethoxazole for his CGD. RESULTS: In the past 2 years, although white blood cell counts were normal, his absolute lymphocyte count range has been between 100/uL and 500/uL. His CD4 cells were particularly decreased (17-29%, absolute counts 110-132/cmm). CD8 was 73-129/cmm, CD19 was 35-68/cmm, and CD16/56 (NK) was 148-288/cmm. Lymphocytes showed strong proliferative response to mitogens and candida, and weak response to tetanus. Quantitative immunoglobulin levels were normal with IgG 1080, IgM 76, IgA 215, and IgE 51. Tests for HIV, monoclonal bands, ANA and anti-endomysial antibodies were negative. Although his Sexual Maturity Rating is 5 for pubic and axillary development, his voice did not deepen at puberty, and serum testosterone was 233 (normal 350-1030) and free testosterone was 40 (52-280). Serum TSH was normal. CONCLUSIONS: This is the first case of CGD with concomitant CD4 lymphopenia and endocrinopathy. Other CGD patients have been reported to have decreased CD4 cells but not to this degree, and the etiology is unclear. Another female patient with CGD and CD4 lymphopenia is currently undergoing a similar workup.