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Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency.
The CVID phenotype in these families is caused by NF-κB1 p50 haploinsufficiency, with a Dutch-Australian CVID-affected family identified a NFKB1 heterozygous splice-donor-site mutation, causing in-frame skipping of exon 8. Expand
New diagnostic criteria for common variable immune deficiency (CVID), which may assist with decisions to treat with intravenous or subcutaneous immunoglobulin
New criteria for the diagnosis of CVID are proposed, which are based on recent scientific discoveries and improved diagnostic precision will assist with treatment decisions including IVIG/scIG replacement. Expand
Comparison of Diagnostic Criteria for Common Variable Immunodeficiency Disorder
The revised ESID registry (2014) criteria for CVID require the presence of symptoms as well as laboratory abnormalities to establish the diagnosis, which will improve diagnostic precision and result in more equitable and judicious use of intravenous or subcutaneous immunoglobulin therapy. Expand
Epistatic interactions between mutations of TACI (TNFRSF13B) and TCF3 result in a severe primary immunodeficiency disorder and systemic lupus erythematosus
It is concluded that epistatic interactions between mutations of the TNFRSF13B/TACI and TCF3 signalling networks lead to the severe CVID‐like disorder and SLE in the proband. Expand
Review: Diagnosing Common Variable Immunodeficiency Disorder in the Era of Genome Sequencing
Recent advances in the genetics of CVID are discussed and how NGS can be optimally deployed to identify the causal mutations responsible for the protean clinical manifestations of these conditions are discussed. Expand
New diagnostic criteria for CVID
Response to: Kumar R, Bhatia A. Common variable immunodeficiency in adults: current diagnostic protocol and laboratory measures. Expert Rev. Clin. Immunol. 10(2), 000–000 (2014).
Clinical Implications of Digenic Inheritance and Epistasis in Primary Immunodeficiency Disorders
A digenic family is described, who carry mutations of TNFRSF13B/TACI as well as TCF3 genes, which are shown to interact in an epistatic way causing severe immunodeficiency and autoimmunity in the digenic proband. Expand
Synthesis and biological activity of azido analogues of 5,6-dimethylxanthenone-4-acetic acid for use in photoaffinity labeling.
The synthesis of azido analogues of 1 that could be used for photoaffinity labeling of proteins as an approach toward identifying its molecular targets is described. Expand
Transient hypogammaglobulinaemia of infancy: many patients recover in adolescence and adulthood
THI must be considered in the differential diagnosis of adolescents or young adults presenting with primary hypogammaglobulinemia, as the majority do not recover in infancy and recovery from THI can extend into adulthood. Expand