Roshini S Abraham

Roshini S Abraham

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Roshini S Abraham

Publications by authors named "Roshini S Abraham"

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Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4 T cells.

J Allergy Clin Immunol 2019 Jul 6;144(1):236-253. Epub 2019 Feb 6.

Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, University of New South Wales, Sydney, Australia; Clinical Immunogenomics Research Consortia Australia, Sydney, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2019.01.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612302PMC
July 2019

RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.

Am J Hum Genet 2019 Jul 13;105(1):108-121. Epub 2019 Jun 13.

Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.05.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612521PMC
July 2019

"The State of the Union": Current and Future Perspectives on Patient-Centric Care for Primary Immunodeficiencies and Immune Dysregulatory Diseases.

Front Immunol 2019 26;10:1783. Epub 2019 Jul 26.

Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, United States.

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http://dx.doi.org/10.3389/fimmu.2019.01783DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6676038PMC
July 2019

WILD syndrome is GATA2 deficiency: A novel deletion in the GATA2 gene.

J Allergy Clin Immunol Pract 2017 Jul - Aug;5(4):1149-1152.e1. Epub 2017 Mar 31.

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minn. Electronic address:

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http://dx.doi.org/10.1016/j.jaip.2017.02.010DOI Listing
June 2019

Clinical Correlation of Cytomegalovirus Infection With CMV-specific CD8+ T-cell Immune Competence Score and Lymphocyte Subsets in Solid Organ Transplant Recipients.

Transplantation 2019 04;103(4):832-838

Division of Infectious Diseases, Department of Medicine, Mayo Clinic, Rochester, MN.

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http://dx.doi.org/10.1097/TP.0000000000002396DOI Listing
April 2019

Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency.

J Allergy Clin Immunol Pract 2019 Jul - Aug;7(6):1970-1985.e4. Epub 2019 Mar 12.

University of South Florida and Johns Hopkins All Children's Hospital, Saint Petersburg, Fla; Division of Allergy and Immunology, Massachusetts General Hospital for Children, Boston, Mass. Electronic address:

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http://dx.doi.org/10.1016/j.jaip.2019.02.038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612449PMC
March 2019

The total IgM, IgA and IgG antibody responses to pneumococcal polysaccharide vaccination (Pneumovax®23) in a healthy adult population and patients diagnosed with primary immunodeficiencies.

Vaccine 2019 Feb 5;37(10):1350-1355. Epub 2019 Feb 5.

Department of Laboratory Medicine and Pathology, Mayo Clinic , Rochester, MN, USA.

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http://dx.doi.org/10.1016/j.vaccine.2019.01.035DOI Listing
February 2019

Relationship between asthma status and antibody response pattern to 23-valent pneumococcal vaccination.

J Asthma 2019 Feb 20:1-10. Epub 2019 Feb 20.

h Department of Pediatric and Adolescent Medicine/Internal Medicine , Mayo Clinic , Rochester , MN , USA.

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http://dx.doi.org/10.1080/02770903.2019.1575394DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6702096PMC
February 2019

Defective TLR9-driven STAT3 activation in B cells of patients with CVID.

Clin Immunol 2018 12 23;197:40-44. Epub 2018 Aug 23.

Division of Immunology, Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2018.08.008DOI Listing
December 2018

Diagnostic Utility of Complement Serology for Atypical Hemolytic Uremic Syndrome.

Mayo Clin Proc 2018 10;93(10):1351-1362

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00256196183057
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http://dx.doi.org/10.1016/j.mayocp.2018.07.008DOI Listing
October 2018

Successful Nonmyeloablative Allogeneic Stem Cell Transplant in a Child With Emberger Syndrome and GATA2 Mutation.

J Pediatr Hematol Oncol 2018 08;40(6):e383-e388

Department of Pediatrics, Pediatric Hematology Oncology & Bone Marrow Transplant Unit.

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http://dx.doi.org/10.1097/MPH.0000000000000995DOI Listing
August 2018

Consequences of B-cell-depleting therapy: hypogammaglobulinemia and impaired B-cell reconstitution.

Immunotherapy 2018 06 23;10(8):713-728. Epub 2018 Mar 23.

Department of Laboratory Medicine & Pathology & Medicine, Mayo Clinic, Rochester, MN 55905, USA.

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http://dx.doi.org/10.2217/imt-2017-0178DOI Listing
June 2018

Diagnostic Tools for Inborn Errors of Human Immunity (Primary Immunodeficiencies and Immune Dysregulatory Diseases).

Curr Allergy Asthma Rep 2018 02 22;18(3):19. Epub 2018 Feb 22.

Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 1st St SW, Rochester, MN, 55905, USA.

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http://dx.doi.org/10.1007/s11882-018-0770-1DOI Listing
February 2018

Optimal approach to assessing T-cell function in haematopoietic cell transplant recipients.

BMJ Case Rep 2018 Jan 23;2018. Epub 2018 Jan 23.

Division of Pediatric Allergy and Immunology, Department of Pediatrics, Mayo Clinic, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1136/bcr-2017-222417DOI Listing
January 2018

A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening.

J Mol Diagn 2017 09;19(5):755-765

Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota; Department of Clinical Genomics, Mayo Clinic College of Medicine, Rochester, Minnesota. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15251578173016
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http://dx.doi.org/10.1016/j.jmoldx.2017.05.011DOI Listing
September 2017

A case of atypical, complete DiGeorge syndrome without 22q11 mutation.

Ann Allergy Asthma Immunol 2017 May;118(5):640-642.e2

Division of Allergy, Immunology and Pulmonary Medicine, Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee.

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http://dx.doi.org/10.1016/j.anai.2017.02.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5424625PMC
May 2017

Error in Complementary DNA Nomenclature in "Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa".

JAMA Dermatol 2016 09;152(9):1065

Department of Dermatology, Mayo Clinic, Rochester, Minnesota.

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http://dx.doi.org/10.1001/jamadermatol.2016.2595DOI Listing
September 2016

RNA sequencing reveals the consequences of a novel insertion in dedicator of cytokinesis-8.

J Allergy Clin Immunol 2016 07 13;138(1):289-292.e6. Epub 2016 Feb 13.

Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Tex; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Tex; Division of Allergy and Immunology, University of Texas Southwestern Medical Center, Dallas, Tex; Children's Medical Center, Children's Heath, Dallas, Tex. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2015.11.033DOI Listing
July 2016

Flow Cytometry, a Versatile Tool for Diagnosis and Monitoring of Primary Immunodeficiencies.

Clin Vaccine Immunol 2016 Apr 4;23(4):254-71. Epub 2016 Apr 4.

Repeat Diagnostics Inc., North Vancouver, British Columbia, Canada, and Terry Fox Laboratory, British Columbia Cancer Agency, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1128/CVI.00001-16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4820507PMC
April 2016

Diagnostic accuracy and clinical relevance of an inflammatory biomarker panel for sepsis in adult critically ill patients.

Diagn Microbiol Infect Dis 2016 Feb 9;84(2):175-80. Epub 2015 Oct 9.

Cellular and Molecular Immunology Laboratory, Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN. Electronic address:

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http://dx.doi.org/10.1016/j.diagmicrobio.2015.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4716883PMC
February 2016

Newborn Screening for Severe Combined Immunodeficiency: Changing the Landscape of Pediatric Primary Immunodeficiencies.

J Allergy Clin Immunol Pract 2015 Nov-Dec;3(6):1008-9

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February 2016

Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa.

JAMA Dermatol 2015 Nov;151(11):1230-4

Department of Dermatology, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, Minnesota.

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http://archderm.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamadermatol.2015.1635DOI Listing
November 2015

Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency.

Case Reports Immunol 2012 31;2012:919241. Epub 2012 May 31.

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1155/2012/919241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4412092PMC
May 2015

Immune monitoring using the predictive power of immune profiles.

J Immunother Cancer 2013 27;1. Epub 2013 Jun 27.

Human Cellular Therapy Laboratory, Division of Transfusion Medicine, Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street, Rochester, MN, USA.

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http://dx.doi.org/10.1186/2051-1426-1-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266565PMC
December 2014

Clinical laboratory immunology: an indispensable player in laboratory medicine.

Am J Clin Pathol 2014 Oct;142(4):437-44

Cellular and Molecular Immunology Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.

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http://dx.doi.org/10.1309/AJCPX25MFWNEYRIGDOI Listing
October 2014

Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.

JAMA 2014 Aug;312(7):729-38

Department of Pediatrics, University of California, San Francisco, San Francisco2UCSF Benioff Children's Hospital, San Francisco, California.

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http://primaryimmune.org/wp-content/uploads/2014/10/August-2
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http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabl
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http://jama.jamanetwork.com/article.aspx?doi=10.1001/jama.20
Publisher Site
http://dx.doi.org/10.1001/jama.2014.9132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4492158PMC
August 2014

Asthma and risk of selective IgA deficiency or common variable immunodeficiency: a population-based case-control study.

Mayo Clin Proc 2013 Aug;88(8):813-21

Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN; Department of Preventive Medicine, Medical College, Inje University, Busan, South Korea.

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http://dx.doi.org/10.1016/j.mayocp.2013.05.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3753684PMC
August 2013

Comprehensive immune monitoring reveals profound immunological changes in pancreas after kidney (PAK) transplant recipients.

Hum Immunol 2013 Jun 7;74(6):738-45. Epub 2013 Mar 7.

Division of Endocrinology and Transplant Center, Mayo Clinic, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1016/j.humimm.2013.02.004DOI Listing
June 2013

Novel infrastructure for sepsis biomarker research in critically ill neonates and children.

Clin Transl Sci 2013 Feb 14;6(1):21-5. Epub 2013 Jan 14.

Mayo Graduate School, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1111/cts.12025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3578308PMC
February 2013

Autoimmune cytopenias in common variable immunodeficiency.

Front Immunol 2012 24;3:189. Epub 2012 Jul 24.

Division of Allergic Diseases, Department of Medicine, Mayo Clinic , Rochester, MN, USA.

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http://dx.doi.org/10.3389/fimmu.2012.00189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3402902PMC
August 2012

Relevance of antibody testing in patients with recurrent infections.

J Allergy Clin Immunol 2012 Aug;130(2):558-9.e6

Cellular and Molecular Immunology Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1016/j.jaci.2012.06.013DOI Listing
August 2012

Immune evaluation and vaccine responses in Down syndrome: evidence of immunodeficiency?

Vaccine 2011 Jul 17;29(31):5040-6. Epub 2011 May 17.

Division of Pediatric Allergy, Immunology, Pulmonology and Infectious Diseases, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1016/j.vaccine.2011.04.060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3909669PMC
July 2011

Accuracy of waste blood measurement in critically ill patients.

Intensive Care Med 2011 Apr 18;37(4):721-2. Epub 2011 Jan 18.

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http://dx.doi.org/10.1007/s00134-010-2118-8DOI Listing
April 2011

Relevance of laboratory testing for the diagnosis of primary immunodeficiencies: a review of case-based examples of selected immunodeficiencies.

Clin Mol Allergy 2011 Apr 9;9. Epub 2011 Apr 9.

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1186/1476-7961-9-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3080807PMC
April 2011

Phenotypic and clinical heterogeneity associated with monoallelic TNFRSF13B-A181E mutations in common variable immunodeficiency.

Hum Immunol 2010 May 12;71(5):505-11. Epub 2010 Mar 12.

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1016/j.humimm.2010.02.002DOI Listing
May 2010

Elevated serum immunoglobulin E (IgE): when to suspect hyper-IgE syndrome-A 10-year pediatric tertiary care center experience.

Allergy Asthma Proc 2009 Jan-Feb;30(1):23-7

Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota, USA.

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http://www.ingentaconnect.com/content/10.2500/aap.2009.30.31
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http://dx.doi.org/10.2500/aap.2009.30.3193DOI Listing
May 2009

Common variable immunodeficiency: a new look at an old disease.

Lancet 2008 Aug;372(9637):489-502

Division of Allergic Diseases, Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S014067360861199
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http://dx.doi.org/10.1016/S0140-6736(08)61199-XDOI Listing
August 2008

Novel analysis of clonal diversification in blood B cell and bone marrow plasma cell clones in immunoglobulin light chain amyloidosis.

J Clin Immunol 2007 Jan 28;27(1):69-87. Epub 2006 Dec 28.

Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA.

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http://link.springer.com/10.1007/s10875-006-9056-9
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http://dx.doi.org/10.1007/s10875-006-9056-9DOI Listing
January 2007

Lineage tree analysis of immunoglobulin variable-region gene mutations in autoimmune diseases: chronic activation, normal selection.

Cell Immunol 2006 Dec 16;244(2):130-6. Epub 2007 Apr 16.

The Mina and Everard Goodman Faculty of Life Sciences, Bar-Ilan University, Building 212, Box 61, Ramat-Gan 52900, Israel.

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http://dx.doi.org/10.1016/j.cellimm.2007.01.009DOI Listing
December 2006

Immunoglobulin variable-region gene mutational lineage tree analysis: application to autoimmune diseases.

Autoimmun Rev 2006 Apr 24;5(4):242-51. Epub 2005 Aug 24.

Faculty of Life Sciences, Bar-Ilan University, Ramat-Gan 52900, Israel.

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http://dx.doi.org/10.1016/j.autrev.2005.07.008DOI Listing
April 2006

Diagnostic performance of quantitative kappa and lambda free light chain assays in clinical practice.

Clin Chem 2005 May 17;51(5):878-81. Epub 2005 Mar 17.

Division of Clinical Biochemistry and Immunology, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1373/clinchem.2004.046870DOI Listing
May 2005

Analysis of somatic hypermutation and antigenic selection in the clonal B cell in immunoglobulin light chain amyloidosis (AL).

J Clin Immunol 2004 Jul;24(4):340-53

Division of Hematology, Stabile 6-28, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1023/B:JOCI.0000029113.68758.9fDOI Listing
July 2004

Characterization of amyloidogenic immunoglobulin light chains directly from serum by on-line immunoaffinity isolation.

Biomed Chromatogr 2004 Apr;18(3):191-201

Biomedical Mass Spectrometry and Functional Proteomics Facility, Mayo Clinic, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1002/bmc.323DOI Listing
April 2004

Immunoglobulin light chain variable (V) region genes influence clinical presentation and outcome in light chain-associated amyloidosis (AL).

Blood 2003 May 19;101(10):3801-8. Epub 2002 Dec 19.

Division of Clinical Biochemistry and Immunology, Mayo Cancer Center, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1182/blood-2002-09-2707DOI Listing
May 2003

Quantitative analysis of serum free light chains. A new marker for the diagnostic evaluation of primary systemic amyloidosis.

Am J Clin Pathol 2003 Feb;119(2):274-8

Division of Clinical Biochemistry and Immunology, University of Birmingham, Birmingham, England.

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http://dx.doi.org/10.1309/LYWM-47K2-L8XY-FFB3DOI Listing
February 2003

Trimolecular complexes of lambda light chain dimers in serum of a patient with multiple myeloma.

Clin Chem 2002 Oct;48(10):1805-11

Division of Clinical Biochemistry and Immunology, Mayo Clinic, Scottsdale, AZ 85259, USA.

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October 2002