Rivista di formazione e di aggiornamento professionale del pediatra e del medico di base, realizzata in collaborazione con l'Associazione Culturale Pediatri
M&B Pagine Elettroniche
Tante visite, una diagnosi “by proxy”: ALPS, la sindrome linfoproliferativa autoimmune
UO Pediatria, Presidio Ospedaliero Soveria Mannelli, ASP Catanzaro.
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Many examinations, one diagnosis by proxy: ALPS, autoimmune lymphoproliferative syndrome
Key words: Case report, ALPS (autoimmune lymphoproliferative syndrome), Lymphocytosis, Double negative T-lymphocytes
Autoimmune lymphoproliferative syndrome or ALPS is a genetic disease associated with anomalous apoptosis in lymphocytes, lymphoproliferation and autoimmune manifestations. Generally, it is possible to observe severe lymphadenopathy, hepatosplenomegaly and autoantibodies that are often directed against erythrocytes, neutrophils and platelets. ALPS patients present with lymphocytosis and remarkable expansion in double negative T-lymphocytes (αβ+; CD4-; CD8- cells). The therapy envisages the administration of cytotoxic, glucocorticoid and antifolate drugs. In case of therapy resistance transplantation of allogenic bone marrow is feasible. The article reports the case of a boy and his younger sister both affected by ALPS. The sister died at the age of 8 years old because of infectious pulmonary complications. The boy was diagnosed with ALPS at the age of 16 years old.
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