Autoimmune lymphoproliferative syndrome laboratory findings: Difference between revisions
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Created page with "__NOTOC__ {{Autoimmune lymphoproliferative syndrome}} '''Editor-In-Chief:''' David Teachey, MD [mailto:TEACHEYD@email.chop.edu] ==Overview== ===Laboratory Findings=== * Ele..." |
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==Overview== | ==Overview== | ||
==Laboratory Findings== | |||
* Elevated peripheral blood Double Negative T cells (DNTs)<ref name="pmid12139944">{{cite journal| author=Bleesing JJ, Brown MR, Novicio C, Guarraia D, Dale JK, Straus SE et al.| title=A composite picture of TcR alpha/beta(+) CD4(-)CD8(-) T Cells (alpha/beta-DNTCs) in humans with autoimmune lymphoproliferative syndrome. | journal=Clin Immunol | year= 2002 | volume= 104 | issue= 1 | pages= 21-30 | pmid=12139944 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12139944 }} </ref> | * Elevated peripheral blood Double Negative T cells (DNTs)<ref name="pmid12139944">{{cite journal| author=Bleesing JJ, Brown MR, Novicio C, Guarraia D, Dale JK, Straus SE et al.| title=A composite picture of TcR alpha/beta(+) CD4(-)CD8(-) T Cells (alpha/beta-DNTCs) in humans with autoimmune lymphoproliferative syndrome. | journal=Clin Immunol | year= 2002 | volume= 104 | issue= 1 | pages= 21-30 | pmid=12139944 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12139944 }} </ref> | ||
** Required for diagnosis | ** Required for diagnosis | ||
Revision as of 15:17, 21 September 2012
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Editor-In-Chief: David Teachey, MD [1]
Overview
Laboratory Findings
- Elevated peripheral blood Double Negative T cells (DNTs)[1]
- Required for diagnosis
- Immunophenotype: CD3+/CD4-/CD8-/TCRalpha/beta+
- Measured by flow cytometry: Normal values <2.5% total T cells; <1% of total lymphocytes in peripheral blood
- Marked elevations >5% virtually pathognomic for ALPS
- Mild elevations also found in other autoimmune diseases
- Thought to be cytotoxic T lymphocytes that have lost CD8 expression
- ?Unknown if driver of disease or epiphenomenon
- May be falsely elevated in setting of lymphopenia or falsely decreased with immunosuppressive treatment
- Defective in vitro Fas mediated apoptosis
- Required for diagnosis under old definition. Now can be used to make diagnosis; however, not required to make diagnosis.
- Time and labor intensive assay.
- T cells from patient and normal control supported in culture for >10 days with mitogen stimulation and IL-2 expansion and then exposed to anti-Fas IgM monoclonal antibody
- ALPS patient T cells: Do not die with anti-Fas monoclonal antibody exposure. Normal T cells from unaffected patient do.
- False negative in somatic Fas variant ALPS and FasL variant ALPS
- Genetic mutations in ALPS causative genes (see below)
- Biomarkers[2] [3]
- Polyclonal hypergammaglobulinemia[4]
- Elevated serum FASL
- Elevated plasma IL-10 and/or IL-18
- Elevated plasma or serum vitamin B12
- Autoantibodies: Non-specific. Can have antibodies to blood cells (DAT, anti-neutrophil, anti-platelet). Also, can have positive ANA, RF, ANCA.
References
- ↑ Bleesing JJ, Brown MR, Novicio C, Guarraia D, Dale JK, Straus SE; et al. (2002). "A composite picture of TcR alpha/beta(+) CD4(-)CD8(-) T Cells (alpha/beta-DNTCs) in humans with autoimmune lymphoproliferative syndrome". Clin Immunol. 104 (1): 21–30. PMID 12139944.
- ↑ Magerus-Chatinet A, Stolzenberg MC, Loffredo MS, Neven B, Schaffner C, Ducrot N; et al. (2009). "FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function". Blood. 113 (13): 3027–30. doi:10.1182/blood-2008-09-179630. PMID 19176318.
- ↑ Caminha I, Fleisher TA, Hornung RL, Dale JK, Niemela JE, Price S; et al. (2010). "Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome". J Allergy Clin Immunol. 125 (4): 946–949.e6. doi:10.1016/j.jaci.2009.12.983. PMID 20227752.
- ↑ Seif AE, Manno CS, Sheen C, Grupp SA, Teachey DT (2010). "Identifying autoimmune lymphoproliferative syndrome in children with Evans syndrome: a multi-institutional study". Blood. 115 (11): 2142–5. doi:10.1182/blood-2009-08-239525. PMID 20068224.