Mutations decreasing function of the Fas death receptor cause the autoimmune lymphoproliferative syndrome (ALPS) with autoimmune manifestations, spleen/lymph node enlargement, and expansion of CD4/CD8-negative T cells. Dianzani Autoimmune Lymphoproliferative Disease (DALD) is a variant lacking this expansion. Perforin is involved in cell-mediated cytotoxicity and its biallelic mutations cause f...

IgG4-related disease is a novel lymphoproliferative disorder that shows hyper-IgG4-γ-globulinemia and IgG4-producing plasma cell expansion in affected organs with fibrotic or sclerotic changes. Patients show systemic inflammatory conditions and various symptoms depending on the affected organ. Since the first report of patients with elevated serum IgG4 in sclerosing pancreatitis in 2001, variou...

Patients with autoimmune conditions develop lymphoproliferative disorders (LPDs) at a higher frequency than normal both in association with and independent of Methotrexate (MTX). We describe a case of MTX-associated lymphoma in a patient with psoriasis on long-standing MTX. The case is notable for the initial tumor burden, the dramatic disappearance of the PET-CT findings on discontinuation of ...

Evans Syndrome is a rare autoimmune disease consisting of hemolytic anemia, thrombocytopenia and/or neutropenia. It may be associated with other autoimmune or lymphoproliferative diseases. Its course can be extremely serious and, rarely, even life-threatening; thus it represents a excellent treatment challenge for the pediatric hematologist. First line treatment consists of steroids and/or immu...

A UTOIMMUNE HEMOLYTIC ANEMIA may complicate a wide variety of diseases, among which are infectious diseases, “collagen” diseases, benign tumors, malignant tumors, lymphomas and Hodgkin’s disease.1’2 The lymphoproliferative disorders, especially chronic lymphatic leukemia, have often been associated with abnormal immunologic mechanisms. The myeloproliferative disorders are rarely associated with...

Castleman tumor, a rare lymphoproliferative disorder, is one of the associated tumors in paraneoplastic pemphigus (PNP). Castleman tumor was a frequently reported neoplasm in association with paraneoplastic pemphigus which was caused by an autoimmune reaction originating from the B lymphocytes. Castleman tumor association with PNP is a rarely reported subtype of PNP in China. Early detection an...

Background Autoimmune lymphoproliferative syndrome (ALPS) a disease which is based on primary violations lymphocyte apoptosis caused by various molecular defects: mutation in the proapoptotic receptor Fas (la ALPS type) or its ligand FasL (Ib type), a mutation in the gene caspase10 (type II), or an unidentified defect in the signaling pathway of Fas-receptor (III type). The typical clinical pic...

OBJECTIVE The cytotoxic T lymphocyte associated antigen-4 (CTLA-4) is expressed on T lymphocytes, and inhibits the T-cell responses. In animal models, it has been shown that complete CTLA-4 deficiency was lethal due to massive infiltration of tissues by polyclonally proliferating lymphocytes. CTLA-4 A49G polymorphism, which has been suggested to reduce the inhibitory function of the CTLA-4 mole...

Paraneoplastic symptoms, caused by a malignancy, but not directly related to invasion by the tumor or its metastases, are the result of a wide variety of tumor-derived biologic mediators like hormones, peptides, antibodies, cytotoxic lymphocytes, autocrine and paracrine mediators. Systemic inflammatory rheumatic diseases, such as rheumatoid arthritis, systemic lupus erythematosus, scleroderma o...

IL-2-deficient mice develop a lymphoproliferative and autoimmune disease characterized by autoimmune hemolytic anemia (AHA) and inflammatory bowel disease. We have previously reported that IL-2 is necessary for optimal up-regulation of CTLA-4, an inducible negative regulator of T cell activation. In this study, we have tested the hypothesis that reduced expression of CTLA-4 in IL-2-deficient T ...