Idiopathic CD4 lymphocytopenia

Abstract

Background Idiopathic CD4 lymphocytopenia (ICL) is a rare condition characterized by an unexplained deficit of circulating CD4 T cells leading to increased risk of serious opportunistic infections. The pathogenesis, etiology, clinical presentation, and best treatment options remain unclear. Objective To describe the clinical presentation, treatment strategies, and outcome of patients with ICL seen in a single referral center. Methods In a retrospective study, from January 1993 to January 2014, the demographic characteristics, clinical presentation, and treatments of patients diagnosed with ICL were reviewed. Results Twenty-four patients (14 female [58%] and 10 male [42%]) were evaluated. The mean age was 45 ± 17.6 years (range 7–76 years). Mean CD4 and CD8 T-cell counts at the time of diagnosis were 119 ± 84/mm3 (range 4–294/mm3) and 219 ± 258/mm3 (range 7–630/mm3), respectively. Seventeen patients (71%) had opportunistic infections, 4 (17%) had malignancies, and 3 (13%) had unexplained demyelinating disease and neurologic problems. Most patients had normal levels of immunoglobulins. Thirteen patients had abnormally low to absent response to phytohemagglutinin, concanavalin A, and antigens (candida and tetanus). Three patients had resolution of warts and 1 had mycobacterial lung infection on interleukin-2 with increases in CD4 count. The 11 patients on trimethoprim and sulfamethoxazole had no further hospital admissions for infections. Conclusion The pathogenesis of ICL remains unclear. Although only some patients are healthy, most patients present with opportunistic infections. There is no known standard treatment aside from prophylactic antibiotics.

<p>Idiopathic CD4 Lymphocytopenia: Current Insights</p>

“…A compilation of various clinical and demographic features of ICL is in Table 1. 2,[5][6][7][8] The disease appears to present in the 4th decade with no definite sex preponderance. Opportunistic infections (OI) seem to be the most common presenting feature.…”

“…The symptoms varied and included pruritus, erythroderma, 42 vesicles, warts, verrucous papules and plaques, 79 condylomata, 80 and mycetoma (Exophiala jeanselmei and M. chelonae). 52 Infection of the skin included viral, bacterial, fungal and parasitic infections like herpes zoster, HPV, 80 molluscum contagiosum, 59 Stenotrophomonas maltophilia, 53 MAC, 51 Candida albicans, tinea corporis, 60 tinea pedis, 68 cryptococci, 8 Aureobasidium species, Alternaria species, and Hortaea werneckii, leishmaniasis. 49 Premalignant lesions (vulval intraepithelial neoplasia, Bowen disease) and malignancies (e.g., Kaposi sarcoma, 61 squamous cells carcinoma and basal cell carcinoma) have been reported.…”

Humanized mouse models reveal an immunologic classification of idiopathic CD4 lymphocytopenia subtypes

“…3), autoimmunity (4-6), and HPV-or EBV-related neoplasias (7,8) that in some cases can be fatal (9,10). Twenty-five years after the CDC defined ICL, its etiology remains elusive, and there is currently no efficacious treatment, other than the use of antibiotics for prophylaxis or treatment of opportunistic infections (11). Therefore, identifying the etiology/ ies of ICL is important not only to characterize the molecular and cellular mechanisms that can trigger and sustain CD4 lymphopenia in humans but also to direct possible therapeutic interventions in afflicted patients.…”

Idiopathic CD4 Lymphocytopenia (HIV Negative AIDS): Case Report and Literature Review

“…Opportunistic infections are frequent in patients with ICL. In a retrospective study of 24 ICL patients, 71% were found to have opportunistic infections [50] . In a review of 258 ICL cases between 1989 and 2012, 87.6% of patients had opportunistic infections and they were most commonly caused by Cryptococcus species (26.6%).…”