Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members

Tabata, Yasuhiro; Villanueva, Joyce; Lee, Susan Molleran; Zhang, Kejian; Kanegane, Hirokazu; Miyawaki, Toshio; Sümegi, János; Filipovich, Alexandra H.

doi:10.1182/blood-2004-09-3651

Cited by 59 publications

(40 citation statements)

References 23 publications

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“…A representative profile in a healthy adult donor is shown in Figure 1. It has been shown that the SAP protein is basically expressed in all major T cell subsets and NK cells (6,8,10,11 þ populations of T cell subsets showed enhanced SAP expression, especially of CD8 þ T cells (Fig. 2).…”

Section: Sap Expression In Normal Donorsmentioning

confidence: 94%

Early and rapid detection of X-linked lymphoproliferative syndrome with SH2D1A mutations by flow cytometry

et al. 2010

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Background: X-linked lymphoproliferative syndrome (XLP) is a rare immunodeficiency with extreme vulnerability to Epstein-Barr virus (EBV) infection. It presents with fatal infectious mononucleosisResults: The method demonstrated that SAP was intensely expressed in CD8 1 T cells and NK cells in normal fresh blood samples, thus suggesting the possible rapid identification of individuals with SAP deficiency. SH2D1A mutations were identified in six patients with SAP deficiency, but not in patients with normal SAP expression.Conclusion: The outcomes from this trial were verified by a flow cytometric assay using KST-3 and Alexa Fluor 488 secondary antibody. Based on the demonstration SAP deficiency in patients with suspected XLP, including mainly EBV-associated HLH, this approach could serve as a method for the early and rapid detection of patients with XLP-1.

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Section: Sap Expression In Normal Donorsmentioning

confidence: 94%

Early and rapid detection of X-linked lymphoproliferative syndrome with SH2D1A mutations by flow cytometry

et al. 2010

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“…For this reason screening for protein expression may be the preferred option. 55 As well as the more typical presentations, screening of males with common variable immunodeficiency has identified previously unsuspected cases of XLP. The mechanism of hypogammaglobinemia in these XLP cases has been clarified using mice with mutations in the Sap gene.…”

Section: X-linked Lymphoproliferative Diseasementioning

confidence: 99%

Epstein-Barr virus: the impact of scientific advances on clinical practice

Williams

Crawford

2006

Blood

152

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“…The vast majority of mutations affect exonic sequences; one mutation in intron 3, five mutations in intron 2, and seven mutations in intron 1 have been reported (Fig. 1) [1,10,[14][15][16][17][18][19][20][21].…”

Section: X-linked Lymphoproliferative Disease (Xlp) (Omim #611432)mentioning

confidence: 99%

Severe XLP Phenotype Caused by a Novel Intronic Mutation in the SH2D1A Gene

et al. 2014

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We describe here a novel c.137+5G > A intronic mutation in the SH2D1A gene of the signaling lymphocyte activation molecule (SLAM)-associated protein (SAP) in association with Epstein-Barr virus (EBV)-induced fatal infectious mononucleosis (FIM) in an 8-year-old male patient and his 3-year-old step brother. The mother and the maternal grandmother of the boys are healthy and heterozygous for this sequence variant. Genetic sequencing of blood-cell-derived cDNA in the younger patient revealed a 22 bp deletion in the SH2D1A cDNA. Immunoblot and flow cytometry analysis performed in this younger patient showed the lack of SAP protein expression in peripheral blood lymphocytes. These data suggest that the novel c.137+5G > A mutation results in loss of function of SAP protein and leads to typical Xlinked lymphoproliferative disease phenotype. We propose that intron 1 and the c.137+5G may be the most frequent intronic hot spot for SH2D1A splicing mutation.

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Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members

Cited by 59 publications

References 23 publications

Early and rapid detection of X-linked lymphoproliferative syndrome with SH2D1A mutations by flow cytometry

Early and rapid detection of X-linked lymphoproliferative syndrome with SH2D1A mutations by flow cytometry

Epstein-Barr virus: the impact of scientific advances on clinical practice

Severe XLP Phenotype Caused by a Novel Intronic Mutation in the SH2D1A Gene

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