Oral findings in patients with Nijmegen breakage syndrome: a preliminary study.
OBJECTIVE
The objective of this study was to assess the oral cavity status of patients with Nijmegen breakage syndrome (NBS), an inherited genetic disorder that belongs to the group of chromosome instability syndromes and is characterized by microcephaly, a distinct facial appearance, growth retardation, radiation sensitivity, and immunodeficiency.


METHODS
Oral examination was conducted and immunological status assessed in 21 NBS patients (1.7-20.7 years old) and 21 healthy controls (5-21 years old). The differences between the frequency and severity of clinical manifestations and their correlation with immune parameters were analyzed by Student t test, the chi-square test, and Spearman's rank order correlation.


RESULTS
Lesions of the oral mucosa and gingivitis were diagnosed more frequently in NBS patients than in controls. The mean Gingival Index was significantly higher in NBS subjects (P = 0.00043). Candidiasis was detected in 6 patients (28.6%) and in none of the healthy controls. Immune deficiency (humoral and/or cellular) was detected in 20 of 21 (95.2%) NBS patients. There was a significant association between severity of gingival inflammation and reduced number of B- and/or CD3+/CD4+ T cells combined with IgA+IgG4 deficiency.


CONCLUSIONS
Our study showed that oral manifestations diagnosed in NBS patients were associated with combined deficiencies of the humoral and cellular arms of the immune system. We postulate that periodical examination of the oral cavity is essential for early medical intervention.
Gregorek
Hanna
H
Department of Microbiology and Clinical Immunology, The Children's Memorial Health Institute, Warsaw, Poland. h.gregorek@czd.pl
Olczak-Kowalczyk
Dorota
D
Dembowska-Bagińska
Bozenna
B
Pietrucha
Barbara
B
Wakulińska
Anna
A
Gozdowski
Dariusz
D
Chrzanowska
Krystyna H
KH
D000293:Adolescent; D002180:Candidiasis, Oral / Q000209:etiology*; D016022:Case-Control Studies; D002613:Cheilitis / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D005260:Female; D005891:Gingivitis / Q000209:etiology*; D006801:Humans; D007070:Immunoglobulin A / Q000097:blood; D007074:Immunoglobulin G / Q000097:blood; D007223:Infant; D018655:Lymphocyte Count; D008297:Male; D049932:Nijmegen Breakage Syndrome / Q000150:complications*; D013281:Stomatitis, Aphthous / Q000209:etiology; D055815:Young Adult
D007070:Immunoglobulin A; D007074:Immunoglobulin G