Background: Defects in B cell class switch recombination (CSR) are a heterogeneous and yet very uncommon group of disorders which all have a genetic basis uniformly leading to hyper IgM (HIgM) syndrome. Due to the rare frequency of these conditions, a very small number of case series have been conducted on the affected patients. Objective: To shed some light on the morbidity and mortality regar...

Systemic vasculitis is an uncommon manifestation of X-linked lymphoproliferative disease (XLP), a disorder in which there is a selective immune deficiency to Epstein-Barr virus (EBV). The molecular basis for XLP has recently been ascribed to mutations within SLAM-associated protein (SAP), an SH2 domain-containing protein expressed primarily in T cells. The authors describe a patient who died as...

Splenectomy can treat conditions characterized by hemolysis or thrombocytopenia caused autoantibodies splenic reticuloendothelial function, as well disorders massive splenomegaly and hypersplenism with cytopenias, such hereditary spherocytosis, transfusion-dependent thalassemia, immune thrombocytopenia, autoimmune hemolytic anemia, marginal zone lymph is no longer used for Hodgkin disease stagi...

Several infectious agents have been associated with development of lymphoproliferative disorders. Among these is hepatitis C virus (HCV), which infects more than 200 million people worldwide. HCV infection has been linked to progression of type II mixed cryoglobulinemia (MC) syndrome and has also been suggested to contribute to development of B-cell non-Hodgkin's lymphoma (NHL). Mechanisms resp...

Lymphoproliferative disorders are recognized as a common cause of secondary immune thrombocytopenia (ITP). The mechanisms involved in the pathogenesis of ITP associated with lymphoproliferative disorders are heterogeneous and often linked to the presence and activity of the malignant clone. A better understanding of the responsible mechanisms leading to ITP in each disease may allow for targete...

Incontinentia Pigmenti, also known as Bloch-Sulzberger syndrome, is a rare X-linked dominant disorder considered to be lethal in males. The syndrome usually presents at birth or shortly thereafter and the skin rash evolves in the classic four stages of vesicular, verrucous, hyperpigmented, and hypopigmented lesions following a blaschko linear distribution. Here we present an unusual case of Inc...

Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of abnormal lymphocyte survival caused by defective Fas-mediated apoptosis, leading to lymphadenopathy, hepatosplenomegaly, and an increased number of double-negative T cells (DNTs). Treatment options for patients with ALPS are limited. Rapamycin has been shown to induce apoptosis in normal and malignant lymphocytes. Since ALPS is cau...

The paper reported on a case of severe myoclonic epilepsy of infancy (SMEI) associated with a probable autoimmune lymphoproliferative syndrome variant (Dianzani autoimmune lymphoproliferative disease) (DALD). A male patient with typical features of SMEI and a SCN1A gene variant presented in the first year of life with multiple lymph nodes, palpable liver at 2 cm from the costal margin, neutrope...