Primary immunodeficiency in infection-prone children in southern Sweden: occurrence, clinical characteristics and immunological findings

BMC Immunology

Lennart Truedsson¹  Lillemor Skattum¹  Göran Jönsson²  Nicholas Brodszki³ 

[1] Department of Laboratory Medicine, Section of Microbiology, Immunology and Glycobiology, Lund University, Lund SE-221 85, Sweden;Department of Infectious Diseases, Skåne University Hospital, Lund University, Lund SE-221 85, Sweden;Children’s Hospital, Skåne University Hospital, Lund SE-22185, Sweden

关键词: Lymphocyte;    Immunoglobulin subclass;    Immunoglobulin;    Immunodeficiency;    Complement;    Children;   

Others  :  1077710
DOI  :  10.1186/s12865-014-0031-6

 received in 2014-05-30, accepted in 2014-08-04,  发布年份 2014

【 摘 要 】

Background

Primary immunodeficiency diseases (PIDs) comprise a heterogeneous group of disorders mainly characterized by increased susceptibility to infections. The aims of this study were to estimate the occurrence rate of PID in the paediatric (age ≤ 18 years) population of southern Sweden (approx. 265,000 children) and to describe their demographic, clinical and immunological characteristics. During a period of 4 years, in four paediatric speciality clinics in Skåne County in southern Sweden, children being seen for infections and fulfilling specific criteria were evaluated according to a predefined examination schedule. The initial analysis consisted of complete blood counts with analysis of lymphocyte subpopulations (T, B, NK cells), measurement of immunoglobulins (IgG, IgA, IgM, IgE and IgG subclasses), and assessment of the complement system (classical, alternative and lectin pathways). In addition, results of these immunological analyses in other children from the same area and time period were evaluated.

Results

In total, 259 children (53.6% males) met the criteria and were included. The most common infection was recurrent otitis media. Immunological analyses results for about two thirds of the patients were outside age-related reference intervals. Further examination in this latter group identified 15 children with PID (9 males); 7 (2.7%) had genetically defined PID, representing 4 different diagnoses, and another 8 (3.1%) had a clinically defined PID - common variable immunodeficiency. No additional PID patient was identified from the evaluation of laboratory results in children not included in the study. The median age at diagnosis was 3.5 years (range 1–12 years).

Conclusions

The occurrence rate of PID was about 4 new cases per year in this population. Several different PID diagnoses were found, and the application of specified criteria to identify PID patients was useful. In children who are prone to infection, the use of a predefined set of immunological laboratory analyses at their first examination was beneficial for early identification of patients with PID.

【 授权许可】

   
2014 Brodszki et al.; licensee BioMed Central Ltd.

【 图 表 】

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