Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency
The updated classification of primary immunodeficiencies (PIDs) compiled by the Expert Committee of the International Union of Immunological Societies acts as a current reference of the knowledge of these conditions and is an important aid for the molecular diagnosis of patients with these rare diseases.
Insertional mutagenesis combined with acquired somatic mutations causes leukemogenesis following gene therapy of SCID-X1 patients.
The occurrence of clonal T cell acute lymphoblastic leukemia (T-ALL) promoted by insertional mutagenesis in a completed gene therapy trial of 10 SCID-X1 patients is described and a general toxicity of endogenous gammaretroviral enhancer elements is highlighted.
Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector
Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes.
TNFRSF13B encodes transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI), a B cell- specific tumor necrosis factor (TNF) receptor superfamily member. Both biallelic…
Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndrome.
This study demonstrated the feasibility of the use of gene therapy in patients with Wiskott-Aldrich syndrome and demonstrated improvement in immunological and hematological characteristics and evidence of safety through vector integration analysis.
Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: entering a new century, do we do better?
Hematopoietic Stem Cell Gene Therapy for Adenosine Deaminase–Deficient Severe Combined Immunodeficiency Leads to Long-Term Immunological Recovery and Metabolic Correction
Two new studies provide clinical support for treatment options that may allow SCID patients without matched donors to live relatively normal lives as well and support the development of new safer and more efficient vectors for this and other kinds of gene therapy.
The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies
The revised figures are proposed, based on the accompanying 2015 IUIS PID EC classification, which describes single-gene inborn errors of immunity underlying phenotypes as diverse as infection, malignancy, allergy, auto-immunity, and auto-inflammation.
Comprehensive genomic access to vector integration in clinical gene therapy
A model to define genomic access to the viral integration site that provides optimal restriction motif combinations and minimizes the percentage of nonaccessible insertion loci is developed and a new nonrestrictive LAM-PCR approach is introduced.
X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.
A large cohort of 91 genetically defined XLP1 patients are described and characteristics and outcome data for 43 patients receiving hematopoietic stem cell transplant (HSCT) and 48 untransplanted patients are reported.