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Defective MHC class II expression in an MHC class II deficiency patient is caused by a novel deletion of a splice donor site in the MHC class II transactivator gene (2000)

Peijnenburg, A. ; Van den Berg, R. ; Van Eggermond, M.J.C.A. ; [et al.]

Springer

Immunogenetics 51 (2000), S. 42-49

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ISSN: 1432-1211

Keywords: Key words Bare lymphocyte syndrome ; MHC class II deficiency ; MHC class II transactivator (CIITA) ; Immunodeficiency ; Gene regulation

Source: Springer Online Journal Archives 1860-2000

Topics: Biology , Medicine

Notes: Abstract MHC class II deficiency patients are mutated for transcription factors that regulate the expression of major histocompatibility complex (MHC) class II genes. Four complementation groups (A–D) are defined and the gene defective in group A has been shown to encode the MHC class II transactivator (CIITA). Here, we report the molecular characterization of a new MHC class II deficiency patient, ATU. Cell fusion experiments indicated that ATU belongs to complementation group A. Subsequent mutation analysis revealed that the CIITA mRNA lacked 84 nucleotides. This deletion was the result of the absence of a splice donor site in the CIITA gene of ATU. As a result of this novel homozygous genomic deletion, ATU CIITA failed to transactivate MHC class II genes. Furthermore, this truncated CIITA of ATU did not display a dominant negative effect on CIITA-mediated transactivation of various isotypic MHC class II promoters.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/s002510050007

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Atopic dermatitis in 5–6-year-old Swedish children: cumulative incidence, point prevalence, and severity scoring (2000)

Broberg, A. ; Svensson, Å ; Borres, M. P. ; [et al.]

Copenhagen : Munksgaard International Publishers

Allergy 55 (2000), S. 0

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ISSN: 1398-9995

Source: Blackwell Publishing Journal Backfiles 1879-2005

Topics: Medicine

Notes: Background: This study aimed to evaluate the cumulative incidence, point prevalence, and severity of atopic dermatitis (AD) in a pediatric population. We also aimed to identify differential diagnoses relevant to AD in this population. Methods: Children scheduled for a health visit at 5.5 years of age were selected consecutively during the period October 1997–March 1998 from two cities in southern Sweden (Göteborg and Kristianstad). Schultz Larsen's questionnaire was used to evaluate the cumulative incidence of AD. Clinical examination was performed by dermatologists (A.B. and Å.S.) for those children with active eczema. The UK working party's criteria were used for the clinical diagnosis of AD. The SCORAD index was used to evaluate the severity of eczema. This index includes evaluation of extent, intensity, and subjective symptoms to a maximum score of 103 points. Results: In Göteborg 1219 and in Kristianstad 742 questionnaires were answered regarding 1961 children, 1004 boys and 957 girls. The response rate was 89%. According to the answers to Schultz Larsen's questionnaire, the cumulative incidence of AD in the whole material was 20.7% (406/1961) (CI 95% 18.9–22.5). In Göteborg, 104 of the examined children fulfilled the UK working party's criteria, equivalent to a point prevalence of 8.5% (CI 95% 7.0–10.1). In Kristianstad, the corresponding point prevalence was 11.5% (CI 95% 9.2–13.8). The severity of AD was evaluated in all children with visible eczema. SCORAD evaluation was performed in 155 of the 157 children with visible eczema. The majority of children had mild or moderate eczema; mean value 20.5 (CI 95% 18.7–22.3), median 19.6. Of the 96 children who did not fulfil the criteria of AD, other skin disorders were diagnosed in 51 at the clinical examination. Dry skin was by far the most common differential diagnosis. Conclusions: We have used validated protocols to evaluate the cumulative incidence, point prevalence, and severity of AD in a population-based study in southern Sweden The present study, involving a rural and urban pediatric population, shows that AD is common, usually classified as mild or moderate, and seems to increase over time.