Case Presentation: The diagnosis of a sexually active young male who presents with fevers, night sweats, weight loss with opportunistic infections and then found to have an acquired immunodeficiency is going to be HIV except when it isn’t. We present a patient with a presumptive diagnosis of HIV but a negative comprehensive HIV laboratory testing leading us to the diagnosis of Idiopathic CD4 Lymphocytopenia (ICL). This is a sporadic syndrome with known associations but of unknown etiology, not caused by HIV nor HTLV, with a CD4 count less than 300. Our case was subsequently associated with Rheumatoid Arthritis (RA). A 40-year old male with an unremarkable past history except for being hospitalized 3 months ago for a “viral syndrome” came to the ED with fever, night sweats, fatigue, difficulty swallowing and shortness of breath. The review of systems was significant for weight loss, facial rash, morning stiffness and bilateral joint pain of the MCP, wrists, elbows, and knees. On physical exam, his vital signs were T 100.7 F, HR 139, RR 22, and BP 109/53. He had malar rash, oral and tongue ulcerations with white plaques, gingival inflammation, and crackles on the right lower lung. His CBC showed Hgb 11.4, Wbc 7.2, Plt 153, eosinophils < 1x10⁹L. His HIV RNA Qnt, anti-SSA/SSB, TB Quantiferon, Hepatitis panel, P-ANCA, dsDNA, EBV IgM, UA, sputum and blood cultures were negative. His rheumatoid factor was high, anti-CCP > 250U, sedimentation rate 117 and C-ANCA 1:160. His CD4 and CD8 count were 55 and 38 respectively. A chest-CT showed right lower lobe infiltrates with consolidation and a BAL culture grew aspergillosis. Appropriate treatments were initiated.
Discussion: This case illustrates the need for an evaluation of the immune system by ordering a CD4 count when managing unexplained opportunistic infections particularly in patients with diagnosed autoimmune diseases. Up to 15% of ICL patients have an autoimmune disease. Our patient, although previously undiagnosed, met the ACR-EULAR classification criteria for RA. Interestingly, there is almost no other case of ICL associated with RA reported in the medical literature.
The opportunistic infectious spectrum in ICL correlates with HIV positive patients with the same CD4 count level. The high mortality of an untreated HIV infected individual is linked to his level of immune deficiency, as measured by the CD4 level. Therefore, as for our case, ICL patients should be managed with prophylactic antibiotics matching their CD4 level. Additionally, ICL patients’ associated diseases, if any, need to be controlled while avoiding an excess weakening of their immune system.
Conclusions: Our patient later improved and was discharged from the hospital on appropriate medications to complete his Aspergillosis treatment. He was set to follow-up with a PCP in the community for the management of his ICL, RA and Aspergillosis pneumonia. His latest follow-up CD4 count was above 400. He is currently being evaluated for the development of a persistent hematuria that may suggest an associated vasculitis since his C-ANCA was positive. He is scheduled for a kidney biopsy.