Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 78-year-old woman, who had axillary lymphadenopathy but no hepatosplenomegaly, was admitted because of lymphocytosis. The leukocyte count was 18.1 x 10(9)/l with 72% abnormal cells. Neither anemia nor thrombocytopenia was present. Many abnormal cells and erythroblasts were seen in the bone marrow. These abnormal cells had irregular nuclei but no granules in the cytoplasm. The surface markers of these cells were positive for E-rosette, CD 2, CD 3, and Leu 7 but negative for CD 4, CD 8, CD 11 (OKM 1), CD 16 (Leu 11), and HLA-DR. The DNA analysis revealed the rearrangement of T-cell receptor beta-chain genes. Direct Coombs test was positive and red-cell life-span (51Cr) was T 1/2 = 19.5 days. The patient was diagnosed as having T-CLL with mild autoimmune hemolysis and was followed without treatment. Seven months later, the leukemia cells of peripheral blood increased to 62.6 X 10(9)/l and the frank autoimmune hemolytic anemia developed. After prednisolone, vincristine and cyclophosphamide were administered, leukemia cells of blood decreased. Anemia with reticulocytopenia, however, persisted and direct Coombs test became negative. In the bone marrow at that time, many neutrophils and megakaryocytes besides leukemia cells were preserved, but erythroblasts were hardly seen, namely a pattern of red cell hypoplasia was observed. The patient deteriorated rapidly and died 26 months after initial recognition of lymphocytosis. When complement was added, the patient's serum obtained during red cell hypoplasia but not during autoimmune hemolysis inhibited BFU-E and CFU-GM in in vitro colony assays. This case indicates that not only B-CLL but also T-CLL is accompanied by immune hematocytopenia.
 ...
PMID:[Red cell hypoplasia following autoimmune hemolytic anemia associated with T-CLL: report of a case and review of the literature]. 250 1

We report a case of chronic active Epstein-Barr (EB) virus infection (CAEBV) associated with skin eruptions mimicking hydroa vacciniforme (HV) in a 4-year-old boy. The patient had repeated episodes of vesiculo-necrotic eruptions on the face, scalp, and bilateral forearms one year before the first visit to our department. General symptoms including fever, hepatosplenomegaly, abnormal liver function, and cervical lymph node swelling were noted three months before the first visit. At the first visit, small, bean-sized, erythemic papules with central necrosis were observed on the face and anterior chest wall. Thumb-sized ulcers with crust were present on the bilateral forearms. Histopathological examination of an erythematous lesion in the submandibular area revealed parakeratosis with a thick crust, mild spongiosis in the epidermis, and a dense infiltration of lymphoid cells into the dermis and perivascular space. Laboratory examination showed EBNA x 40, EBV VCA IgG x 1,280, and EBV DNA (PCR) 8 x 10(4). EBV-encoded small nuclear RNA (EBER) positive cells were detected in the dermis by an in situ hybridization (ISH) method. Large granular lymphocytes (65%) with the NK cell phenotype were found in the peripheral blood. A real time PCR method showed 171,741 copies/ micro g DNA in CD 16 positive cells. Although latent EBV infection-associated eruptions have been documented, detailed skin manifestations in CAEBV are less well known.
 ...
PMID:Hydroa vacciniforme-like eruptions in a patient with chronic active EB virus infection. 1277 6