Immunodeficiency in a Child with Rapadilino Syndrome: A Case Report and Review of the Literature.

Rapadilino syndrome is a genetic disease characterized by a characteristic clinical tableau. It is caused by mutations in RECQL4 gene. Immunodeficiency is not described as a classical feature of the disease. We present a 2-year-old girl with Rapadilino syndrome with important lymphadenopathies and pneumonia due to disseminated Mycobacterium lentiflavum infection. An immunological work-up showed several unexpected abnormalities. Repeated blood samples showed severe lymphopenia. Immunophenotyping showed low T, B, and NK cells. No Treg cells were seen. T cell responses to stimulations were insufficient. The IL12/IL23 interferon gamma pathway was normal. Gamma globulin levels and vaccination responses were low. With this report, we aim to stress the importance of screening immunodeficiency in patients with RECQL4 mutations for immunodeficiency and the need to further research into its physiopathology.

Detection of minimal residual disease in multiple myeloma and acute leukaemia.

The importance of minimal residual disease detection has increased due to the advanced therapeutic protocols available for multiple myeloma and acute leukaemia. High-dose chemotherapy, followed by stem cell transplantation is often used in patients with multiple myeloma. But despite a longer disease-free period and overall survival, all patients relapse. In the treatment of acute leukaemia, there are similar problems. The present strategy is to give continuous chemotherapy to eradicate minimal residual disease. In this review, we consider the methods used to detect and quantify minimal residual disease. At present, the most effective seem to be those based on the use of polymerase chain reactions to detect the malignant cells.

The use of the anti-malaria drug Fansidar (pyrimethamine and sulphadoxine) in the treatment of a patient with autoimmune lymphoproliferative syndrome and Fas deficiency.

Fas is a protein that plays a major role in the apoptotic mechanism of several cell types, including white blood cells (WBC). Mutations of the Fas gene in humans are known to lead to autoimmune lymphoproliferative syndrome (ALPS). Glucocorticoids or cytostatic drugs are sometimes used to treat the lymphoproliferation in these patients. When treated with the anti-malaria drug Fansidar, a patient with ALPS showed a marked shrinkage of the lymph node masses, decrease in peripheral blood lymphocytes (PBL) and an increase in neutrophil numbers. In addition, an increased Fas expression was seen on all types of leucocytes.