This article presents a case report for a child presenting with mixed clinical features of autoimmune lymphoproliferative syndrome (ALPS), familial hemophagocytic lymphohistiocytosis (FHL), and X-linked lymphoproliferative (XLP) disease. From 6 months, he exhibited splenomegaly and lymphoadenopathy and from 4 years, he showed recurrent severe autoimmune hemocytopenia and sepsislike bouts of fev...

Autoimmune lymphoproliferative syndrome (ALPS) is an uncommon nonmalignant lymphoproliferative disease which is characterized by chronic, persistent or recurrent lymphadenopathy, splenomegaly, hepatomegaly, immune cytopenia , hypergammaglobinemia and increased risk of lymphoma. We report a 2-year old boy with hepatosplenomegaly as first presentation. Petechial and purpuric rashes with massive c...

Signal Transducer and Activator of Transcription 6 (STAT6) is critical for IL-4 and IL-13 responses, and necessary for the normal development of Th2 cells. We previously generated mice that express a constitutively active STAT6 (STAT6VT) under control of the CD2 locus control region, which directs expression to the T cell compartment. We now describe that a small proportion of these mice (~5%) ...

INTRODUCTION — Acquired deficiency of C1 inhibitor (C1-INH), also called acquired angioedema (AAE), is a rare syndrome of recurrent episodes of angioedema, without urticaria, which is associated with B cell lymphoproliferative disorders in some patients [1,2]. Angioedema typically affects the skin or mucosal tissues of the upper respiratory and gastrointestinal tracts. The swelling is self-limi...