Cryptococcus neoformans commonly causes opportunistic infections in immunocompromised patients, especially in patients with AIDS. CD4+ T-lymphocytopenia in AIDS indicates an increased risk of opportunistic infection and a decline in immunological function. Idiopathic CD4 T-lymphocytopenia (ICL) is characterized by depletions in the CD4+ T-cell subsets, without evidence of HIV infection. Immunodeficiency can exist in the absence of laboratory evidence of HIV infection, and T-cell subsets should be evaluated in patients who present with unusual opportunistic infections. We report a case of pulmonary cryptococcosis and lung cancer in a patient with persistently low CD4+ cell counts, without evidence of HIV infection.
Aged ; CD4 Lymphocyte Count ; CD4-Positive T-Lymphocytes/*pathology ; Carcinoma, Non-Small-Cell Lung/*complications/immunology ; Cryptococcosis/*complications/immunology ; Humans ; Lung Neoplasms/*complications/immunology ; Lymphopenia/*complications/immunology ; Male

Child ; Cryptococcosis ; complications ; immunology ; Cryptococcus neoformans ; immunology ; pathogenicity ; Diagnosis, Differential ; Humans ; T-Lymphocytopenia, Idiopathic CD4-Positive ; complications ; diagnosis

X-linked hyper-IgM syndrome (XHIM) is a rare primary immunodeficiency disorder, caused by mutations of the gene encoding CD40 ligand (CD40L; CD154). We report the clinical manifestations and mutational analysis of the CD40L gene observed in a male patient from a XHIM family. Having hypogammaglobulinemia and elevated IgM, the 3-yr-old boy exhibited the characteristic clinical features of XHIM. The patient suffered from frequent respiratory infections, and chronic enteritis caused by Cryptosporidium parvum. In addition, a lymph node biopsy and a culture from this sample revealed C. neoformans infection. Activated lymphocytes from the patient failed to express CD40L on their surface as assessed by flow cytometry and a missence mutation (W140R) was found at the XHIM hotspot in his CD40L cDNA to confirm the diagnosis. Genetic analysis of the mother and sister showed a heterozygote pattern, indicating carrier status. To our knowledge, this is the first report on the molecular diagnosis of an XHIM patient in Korea.
Animals ; CD40 Ligand/*genetics ; Child, Preschool ; Cryptococcosis/*complications/genetics/immunology ; Cryptococcus neoformans ; Cryptosporidiosis/*complications/genetics/immunology ; *Cryptosporidium parvum ; Female ; *Heterozygote ; Humans ; Hypergammaglobulinemia/complications/*diagnosis/genetics/immunology ; Immunoglobulin M/*blood ; Korea ; Male ; Pedigree ; *X Chromosome

Cryptococcal infection is a rare, yet well recognized complication of systemic lupus erythematosus (SLE). We present a case of mesenteric and retroperitoneal cryptococcal lymphadenitis resulting in the obstruction of the stomach and proximal duodenum in a patient suffering from SLE, while recently she did not receive any immunosuppressive treatment. A 42-yr-old woman was admitted due to high fever and diffuse abdominal pain for three weeks. Abdominal computed tomography (CT) scan showed multiple conglomerated lymphadenopathies in the retroperitoneum and the mesentery resulting in luminal narrowing of the third portion of the duodenum. Cryptococcal lymphadenitis was proven by needle biopsy and she was treated with intravenous liposomal amphotericin B, followed by oral fluconazole. After fourteen-month antifungal therapies, the clinical symptoms and follow-up images improved. This case emphasize that the intrinsic immunological defects of SLE may be directly responsible for the predisposition to fungal infections.
Adult ; Cryptococcosis/*etiology/pathology/radiography ; Female ; Humans ; Lupus Erythematosus, Systemic/*complications/immunology ; Lymphadenitis/*etiology/pathology/radiography ; Mesentery ; Opportunistic Infections/etiology/pathology/radiography ; Research Support, Non-U.S. Gov't ; Retroperitoneal Space ; Tomography, X-Ray Computed