The concept of adaptive immunity suggests de novo generation in each individual RI H
[WUHPHO\ODUJH UHSHUWRLUHV RI GLYHUVLfiHG UHFHSWRUV DQG VHOHFWLYH …

Background Recombination-activating gene 1 (RAG1) deficiency presents with a varied
spectrum of combined immunodeficiency, ranging from a T− B− NK+ type of disease to a T+ …

Destructive midline granulomatous disease characterized by necrotizing granulomas of the
head and neck is most commonly caused by Wegener granulomatosis, natural killer/T-cell …

Autoimmunity has long been known to be a part of the presenting symptoms and clinical
course of many primary immunodeficiencies. This review will provide an overview of the new …

Purpose Combined immunodeficiency (CID) presents a unique challenge to clinicians. Two
patients presented with the prior clinical diagnosis of common variable immunodeficiency …

Homing endonucleases recognize long target DNA sequences generating an accurate
double-strand break that promotes gene targeting through homologous recombination. We …

Introduction We describe a girl presenting at age 6 years with a history of chronic ulcerating
intestinal inflammation since 9 months of age. She exhibited a severe, steroid-dependent …

Background Severe combined immunodeficiency is within a heterogeneous group of
inherited defects throughout the development of T-and/or B-lymphocytes. Mutations in …

Mutations in the recombination activating genes (RAG1 or RAG2) can lead to a variety of
immunodeficiencies. Herein, we report 5 cases of RAG deficiency from 5 families: 3 of …

There is a need for neonatal screening tools to improve the long-term clinical outcome of
patients with primary immunodeficiency diseases (PID). Recently, a PCR-based screening …