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

Yasuhiro Tabata, Joyce Villanueva, Susan Molleran Lee, Kejian Zhang, Hirokazu Kanegane, Toshio Miyawaki, Janos Sumegi, Alexandra H. Filipovich

Research output: Contribution to journalArticle

47 Citations (Scopus)

Abstract

Mutations in the SH2D1A gene have been described in most patients with the clinical syndrome of X-linked lymphoproliferative disease (XLP). The diagnosis of XLP is still difficult given its clinical heterogeneity and the lack of a readily available rapid diagnostic laboratory test, particularly in patients without a family history of XLP. XLP should always be a consideration in males with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis (EBV-HLH). Four-color flow cytometric analysis was used to establish normal patterns of SH2D1A protein expression in lymphocyte subsets for healthy subjects. Three of 4 patients with XLP, as confirmed by the detection of mutations in the SH2D1A gene, had minimal intracellular SH2D1A protein in all cytotoxic cell types. The remaining patient lacked intracellular SH2D1A protein in CD56+ natural killer (NK) and T lymphocytes and had an abnormal bimodal pattern in CD8+ T cells. Carriers of SH2D1A mutations had decreased SH2D1A protein staining patterns compared with healthy controls. Eleven males with clinical syndromes consistent with XLP, predominantly EBV-HLH, had patterns of SH2D1A protein expression similar to those of healthy controls. Four-color flow cytometry provides diagnostic information that may speed the identification of this fatal disease, differentiating it from other causes of EBV-HLH.

Original languageEnglish (US)
Pages (from-to)3066-3071
Number of pages6
JournalBlood
Volume105
Issue number8
DOIs
StatePublished - Apr 15 2005

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Lymphoproliferative Disorders
Lymphocytes
Hemophagocytic Lymphohistiocytosis
Human Herpesvirus 4
Viruses
Proteins
T-cells
Mutation
Color
T-Lymphocytes
Genes
Lymphocyte Subsets
Flow cytometry
Routine Diagnostic Tests
Signaling Lymphocytic Activation Molecule Associated Protein
Healthy Volunteers
Flow Cytometry
Staining and Labeling

ASJC Scopus subject areas

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology

Cite this

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; Sumegi, Janos; Filipovich, Alexandra H.

In: Blood, Vol. 105, No. 8, 15.04.2005, p. 3066-3071.

Research output: Contribution to journalArticle

Tabata, Y, Villanueva, J, Lee, SM, Zhang, K, Kanegane, H, Miyawaki, T, Sumegi, J & Filipovich, AH 2005, 'Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members', Blood, vol. 105, no. 8, pp. 3066-3071. https://doi.org/10.1182/blood-2004-09-3651
Tabata, Yasuhiro ; Villanueva, Joyce ; Lee, Susan Molleran ; Zhang, Kejian ; Kanegane, Hirokazu ; Miyawaki, Toshio ; Sumegi, Janos ; Filipovich, Alexandra H. / Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members. In: Blood. 2005 ; Vol. 105, No. 8. pp. 3066-3071.
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