Abstract:

Abstract   Background and aim: Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of abnormal lymphocyte survival caused by dysregulation of the Fas apoptotic pathway. In ALPS defective lymphocyte apoptosis manifests as a chronic, nonmalignant lymphadenopathy and/or splenomegaly/hepatosplenomegaly, expansion of double negative T cell (DNTC) – CD4-CD8-TCRαβ+ T cells, autoimmune cytopenias and other autoimmune diseases.  Patients demonstrate oral lesions which have not yet been reported in the literature. The aim of the study was to present the oral status of children with ALPS, associated mainly with haematologic and immunologic disorders. Material and methods: Among almost 1500 patients with primary immune deficiency diagnosed between 1980 and 2012 at the Department of Immunology, Children's Memorial Hospital, Warsaw (Poland) 7 cases of ALPS were identified according to ALPS diagnostic criteria. Routine immunological parameters were evaluated (serum immunoglobulin levels, immunophenotyping of peripheral lymphocytes, DNT cells, proliferative response to mitogens), vitamin B12 level, haematological and biochemical laboratory tests. Clinical course was retrieved retrospectively from medical records and evaluated during control visits. All patients were offered dental evaluation and treatment. Clinical examinations included the status of marginal gingiva, oral mucosa (the presence and type of lesions) and presence of caries.   Results and conclusions: Almost all patients presented with leukopenia and granulocytopenia during control visits. Unsatisfactory oral hygiene status, carious cavities and gingivitis were found in all patients. In six subjects oral ulcers were also noticed.  In two of them gingivitis was assessed as severe (with redness, swelling and spontaneous gingival bleeding), in other - as mild. An association between hematological and immune disorders and the health status of the oral mucosa and gingivae was observed in all but one patient. Findings included pale oral mucosa, a smooth tongue, recurrent mucosal ulcers, and gingivitis with bleeding. Their onset was accompanied by deterioration in the patients' general health condition and the presence of local causative factors. Recurrent oral inflammation/aphtae can be the first symptom of ALPS and should be taken into account in differential diagnosis by paediatrician or general practitioner. It indicates strong need for cooperation between the dentists and immunologists and haematologists.    

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