General information
The SALSA MLPA
Probemix P205 SH2D1A-XIAP-ITK is a
research use only (RUO) assay for the detection of deletions or duplications in the
SH2D1A,
XIAP, and
ITK genes, which are associated with Duncan disease.
X-linked lymphoproliferative syndrome (XLP or Duncan disease) is a primary immunodeficiency characterised by severe immune dysregulation, often after viral infection, typically with Epstein-Barr virus (EBV). It is a complex phenotype with symptoms such as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis (HLH), and/or malignant lymphoma. Other features may include aplastic anemia, red cell aplasia, and lymphomatoid granulomatosis. Mutations in the
SH2D1A (XLP1) and
XIAP (XLP2) genes on chromosome X are the cause of this disorder. More recently, defects in the IL-2 inducible T cell kinase (
ITK) gene on chromosome 5 are identified as a cause for an autosomal EBV-associated lymphoproliferative syndrome. It shows a similar, but not identical phenotype to XLP.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1406/.
Probemix content
The SALSA MLPA Probemix P205-B2 SH2D1A-XIAP-ITK contains 39 MLPA probes with amplification products between 129 and 432 nucleotides (nt). This includes eight probes for the
SH2D1A gene, two probes for all four exons, seven probes for the
XIAP gene, one probe for each exon, and 16 probes for the
ITK gene, one probe for each exon with the exception of exon 17. In addition, eight reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (
www.mlpa.com).
This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at
www.mlpa.com.