A 9-year-old boy with nephrotic syndrome who had a history of atopic dermatitis since 5 years of age is presented in this report. Generalized edema and hyperpigmented and desquamated pruritic lesions were detected on the trunk and extremities. Mesangial C1q deposition was seen on kidney biopsy. A high serum IgE level was also detected. Complete remission was achieved with steroid therapy.

Child↗

PubMed2002

Direct genetic correction as a new method for diagnosis and molecular characterization of MHC class II deficiency.

Major histocompatibility complex class II (MHCII) deficiency is a primary immunodeficiency resulting from defects in one of four different MHCII-specific transcription factors-CIITA, RFX5, RFXAP, and RFXANK. Despite this genetic heterogeneity, the phenotypical manifestations are homogeneous. It is frequently difficult to establish a definitive diagnosis of the disease on the basis of clinical and immunological criteria. Moreover, the phenotypical homogeneity precludes unambiguous identification of the regulatory gene that is affected. Identification of the four genes mutated in the disease has now allowed us to develop a rapid and straightforward diagnostic test for new MHCII-deficiency patients. This test is based on direct correction of the genetic defect by transduction of cells from patients with lentiviral vectors encoding CIITA, RFXANK, RFX5, or RFXAP. We have validated this approach by defining the molecular defects in two new patients. The RFXANK vector restored MHCII expression in a T cell line from one patient. The RFXAP vector corrected primary cells (PBL) from a second patient. Molecular analysis confirmed the presence of homozygous mutations in the RFXANK and RFXAP genes, respectively. Direct genetic correction represents a valuable tool for the diagnosis and classification of new MHCII-deficiency patients.

Amino Acid Sequence↗

PubMedDate not supplied

Bacillus Calmette-Guerin osteomyelitis in a patient with severe combined immunodeficiency: radiologic appearances of extensive dissemination.

Explore the source record for details and available documents.

Adjuvants, Immunologic↗

PubMedDate not supplied

Evaluation of nutritional status and factors related to malnutrition in children on CAPD.

OBJECTIVE: The aim of this study was to investigate the nutritional status of children on continuous ambulatory peritoneal dialysis (CAPD) and to relate it to the dose of dialysis and serum levels of inflammatory cytokines and insulin-like growth factor-1 (IGF-1). PATIENTS: 17 CAPD patients (8 girls, 9 boys; mean age 13.1 +/- 3.5 years, median 15 years) were included in the study. Anthropometric measurements and serum albumin levels were used in the evaluation of nutritional status. Serum interleukin (IL)-1beta, IL-6, tumor necrosis factor alpha, and IGF-1 levels were determined in all CAPD patients and in a healthy control group. Weekly Kt/V and creatinine clearance (CCr) were measured to determine adequacy of dialysis. RESULTS: The mean dialysis period was 23.7 +/- 15.2 months (median 23 months). Anthropometric measurements and serum albumin level were as follows: height 130.2 +/- 15.6 cm, height standard deviation score (HtSDS) -4.2 +/- 2.4, body mass index (BMI) 16.3 +/- 1.6 kg/m2, body mass index standard deviation score (BMISDS) -0.8 +/- 0.9, triceps skinfold thickness (TST) 4.2 +/- 1.4 mm, midarm circumference (MAC) 16.21 +/- 2.3 cm, upper arm muscle area (AMA) 1799.1 +/- 535.7 mm2, upper arm fat area (AFA) 334.5 +/- 143 mm2, and serum albumin 3.1 +/- 0.7 g/dL. The BMI was above the fifth percentile in all patients; TST and MAC were below the fifth percentile in 14 patients (82.4%) and 10 patients (58.8%) respectively. The AMA was below the fifth percentile in 8 patients; however, the AFA was below the fifth percentile in all patients. Mean serum albumin level was under 3.5 g/dL in 70.5% of the children. We found significant positive correlations between BMI and Kt/V (r = 0.69, p < 0.01), CCr (r = 0.64, p < 0.05), and IL-6 (r = 0.61, p < 0.01). There was an inverse correlation between BMISDS and dialysis period (r = -0.58, p < 0.05); and between IL-6 and serum albumin (r = -0.49, p < 0.05). A significant positive correlation between BMISDS and serum IGF-1 level (r = 0.62, p < 0.01) was noted. We also found a significant positive correlation between serum IGF-1 level and both HtSDS (r = 0.57, p < 0.05) and TST (r = 0.52, p < 0.05). Significant positive correlations between AFA and CCr and IGF-1 were also noted (both r = 0.56, p < 0.05). CONCLUSION: Although many factors may be responsible for malnutrition and growth retardation, we found that prolonged period of dialysis, inadequate dialysis, and low IGF-1 levels are the most important risk factors in CAPD patients.

Adolescent↗