Adolescent ; Child ; Child, Preschool ; Electrocardiography ; Female ; Fever ; complications ; Hemorrhagic Fever with Renal Syndrome ; blood ; complications ; pathology ; Humans ; Hypergammaglobulinemia ; blood ; Immunoglobulin M ; blood ; Male ; Pain ; complications

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

We report a rare case of multicentric Castleman's disease that presented with ophthalmic involvement, along with a review of the literature. A 63-year-old male presented with decreased visual acuity in both eyes. Both eyes had serous elevations of the retinas with shifting subretinal fluid and annular choroidal detachment. No retinal breaks were found. Laboratory tests revealed pancytopenia, hypergammaglobulinemia, and an increased erythrocyte sedimentation rate. Chest and abdominal computed tomographies showed multiple lymphadenopathies in the mediastinum, abdomen, and in both inguinal areas. Histological examination of the inguinal lymph node biopsy was consistent with Castleman's disease. After combination chemotherapy, the serous elevations of both retinas and the annular choroidal detachments of both eyes disappeared. Ophthalmic involvement in Castleman's disease is very rare, and to the authors' knowledge, this is the first report of ophthalmic involvement of Castlemans's disease in Korea.
Aged ; Choroid Diseases/etiology ; Drug Therapy, Combination ; Exudates and Transudates/*metabolism ; Fluorescein Angiography ; Fundus Oculi ; Giant Lymph Node Hyperplasia/*complications/drug therapy ; Humans ; Hypergammaglobulinemia/complications ; Magnetic Resonance Imaging ; Male ; Syndrome ; Tomography, Optical Coherence ; Treatment Outcome ; Uveal Diseases/diagnosis/*etiology/*metabolism

The pathogenesis of autoimmune hepatitis (AIH) is unclear, but viral infections have been proposed as a potential trigger in patients with genetic predisposition. We report a case of AIH following acute hepatitis A (AHA). A 57-year-old woman presented with fatigue and pitting edema for last 3 months. She had been diagnosed as an AHA 15 months ago based on clinical features, biochemical tests and positive HAV IgM antibody at a local clinic. Her biochemical tests was normalized one month after AHA diagnosis, but the serum levels of aminotransferase started to rise four months after AHA diagnosis. Antinuclear antibody was positive at a titer of 1:40, and anti-smooth muscle antibody was also positive. Hypergammaglobulinemia and liver pathology were typical for AIH. The patients had a score of 17 according to the International Autoimmune Hepatitis Group's system. She was given prednisolone and azathioprine and showed complete response to immunosuppressive therapy. The present case is the first report on AIH triggered by AHA in Korea.
Acute Disease ; Alanine Transaminase/blood ; Antibodies, Antinuclear/analysis ; Aspartate Aminotransferases/blood ; Autoantibodies/analysis ; Azathioprine/therapeutic use ; Female ; Hepatitis A/complications/*drug therapy ; Hepatitis, Autoimmune/*diagnosis/drug therapy/etiology ; Humans ; Hypergammaglobulinemia/diagnosis ; Immunosuppressive Agents/therapeutic use ; Liver/pathology ; Middle Aged ; Prednisolone/therapeutic use

OBJECTIVETo investigate the clinical and laboratory characteristics of tumor like Sjögren's syndrome (TLSS) patients and non-tumor like Sjögren's syndrome (NTLSS) and the incidence of lymphoma in patients of Sjögren's syndrome (SS).

METHODSA retrospective analysis was carried out in 199 primary SS (including TLSS) patients who were recruited in Peking University School and Hospital of Stomatology from 1998 to 2010. Clinical and laboratory information were collected. The patients were divided into two groups: TLSS (n = 25) and NTLSS (n = 174). Clinical and laboratory characteristics were compared between these two groups by a statistical analysis.

RESULTSOf the 25 TLSS patients, 23 had enlargements of parotid glands and 2 had enlargements of submandibular glands. There were significant differences of salivary scintigraphy appearance (P = 0.018), hypergammaglobulinemia (P = 0.014), rheumatoid factor positive rate (P = 0.001), formation of the ectopic germinal centers (P = 0.014), double positive rate of anti-SSA antibody and anti-SSB antibody (P < 0.001) between the TLSS and NTLSS patients. Among the 25 TLSS patients, 3 developed lymphomas, accounting for 1.5% (3/199) of the total 199 patients and 12% (3/25) of the TLSS patients. Lymphoma subtypes included one diffused large B-cell lymphoma and two mucosa-associated lymphoid tissue lymphoma. There was no lymphoma detected in NTLSS patients.

CONCLUSIONSThere are clinical and laboratory differences between TLSS and NTLSS patients, with a more tendency to develop lymphomas in TLSS patients.

Adult ; Antibodies, Antinuclear ; metabolism ; Female ; Humans ; Hypergammaglobulinemia ; metabolism ; Lymphoma, B-Cell, Marginal Zone ; diagnostic imaging ; etiology ; metabolism ; pathology ; Lymphoma, Large B-Cell, Diffuse ; diagnostic imaging ; etiology ; metabolism ; pathology ; Male ; Middle Aged ; Parotid Gland ; pathology ; Radionuclide Imaging ; Retrospective Studies ; Rheumatoid Factor ; metabolism ; Salivary Glands ; diagnostic imaging ; Sjogren's Syndrome ; complications ; diagnostic imaging ; metabolism ; pathology ; Submandibular Gland ; pathology