Keywords
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribers receive full online access to your subscription and archive of back issues up to and including 2002.
Content published before 2002 is available via pay-per-view purchase only.
Subscribe:
Subscribe to Clinics in Laboratory MedicineAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- Classification of primary immunodeficiency diseases by the International Union of Immunological Societies (IUIS) Expert Committee on Primary Immunodeficiency 2011.Clin Exp Immunol. 2012; 168: 58-59
Online Mendelian Inheritance in Man (OMIM). An online catalog of human genes and genetic disorders. In: Online Mendelian Inheritance in Man. Available at: http://omim.org/. Accessed April 12, 2017.
- Population prevalence of diagnosed primary immunodeficiency diseases in the United States.J Clin Immunol. 2007; 27: 497-502
- Primary immunodeficiencies.J Allergy Clin Immunol. 2010; 125: S182-S194
- Advances in clinical immunology in 2015.J Allergy Clin Immunol. 2016; 138: 1531-1540
- Immunodeficiency with autoimmunity: beyond the paradox.Front Immunol. 2013; 4: 77
- Primary immunodeficiencies associated with eosinophilia.Allergy Asthma Clin Immunol. 2016; 12: 27
- Pathogenesis of autoimmunity in common variable immunodeficiency.Front Immunol. 2012; 3: 210
- A proposed classification of the immunological diseases.PLoS Med. 2006; 3: e297
- The 10 warning signs: a time for a change?.Curr Opin Allergy Clin Immunol. 2012; 12: 588-594
- The 2015 IUIS phenotypic classification for primary immunodeficiencies.J Clin Immunol. 2015; 35: 727-738
- Primary antibody deficiencies: recognition, clinical diagnosis and referral of patients.Clin Med (Lond). 2009; 9: 595-599
- Evaluation of primary immunodeficiency disease in children.Am Fam Physician. 2013; 87: 773-778
- Novel diagnostic options for immunodeficiencies.Clin Biochem. 2014; 47: 724-725
- Flow cytometry, a versatile tool for diagnosis and monitoring of primary immunodeficiencies.Clin Vaccine Immunol. 2016; 23: 254-271
- Applications of flow cytometry for the study of primary immune deficiencies.Curr Opin Allergy Clin Immunol. 2008; 8: 499-509
- Eight color immunophenotyping of T-, B- and NK cell subpopulations for characterization of chronic immunodeficiencies.Cytometry B Clin Cytom. 2014; 86: 191-206
- Newborn screening for severe primary immunodeficiency diseases in Sweden-a 2-Year Pilot TREC and KREC screening study.J Clin Immunol. 2017; 37: 51-60
- Clinical picture and treatment of 2212 patients with common variable immunodeficiency.J Allergy Clin Immunol. 2014; 134: 116-126
- B cell biology and development.J Allergy Clin Immunol. 2013; 131: 959-971
- Overview of laboratory testing and clinical presentations of complement deficiencies and dysregulation.Adv Clin Chem. 2016; 77: 1-75
- Detection of intracellular phosphorylated STAT-1 by flow cytometry.Clin Immunol. 1999; 90: 425-430
- Detection of intracellular phosphorylated STAT-4 by flow cytometry.Clin Immunol. 2001; 100: 270-276
- JAKs and STATs in immunoregulation and immune mediated disease.Immunity. 2012; 36: 542-550
- Flow cytometry as an important tool in the diagnosis of immunodeficiencies demonstrated in a patient with ataxia-telangiectasia.Laboratoriumsmedizin. 2016; 40: 255-261
- Differences in FOXP3 and CD127 expression in Treg-like cells in patients with IPEX syndrome.Clin Immunol. 2014; 153: 109-111
- Flow cytometric measurement of STAT1 and STAT3 phosphorylation in CD4+ and CD8+ T cells - clinical applications in primary immunodeficiency diagnostics.J Allergy Clin Immunol. 2017; S0091-6749: 30915-30916
- Primary and secondary immunodeficiencies.Ther Umsch. 2014; 71: 31-43
- Risk of tuberculosis infection in anti-TNF-α biological therapy: from bench to bedside.J Microbiol Immunol Infect. 2014; 47: 268-274
- Mutations of the Igbeta gene cause agammaglobulinemia in man.J Exp Med. 2007; 204: 2047-2051
- Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis.J Allergy Clin Immunol. 2001; 108: 1012-1020
- Deficient expression of Bruton's tyrosine kinase in monocytes from X-linked agammaglobulinemia as evaluated by a flow cytometric analysis and its clinical application to carrier detection.Blood. 1998; 91: 595-602
- Severe deficiency of switched memory B cells (CD27(+)IgM(-) IgD(-)) in subgroups of patients with common variable immunodeficiency: a new approach to classify a heterogeneous disease.Blood. 2002; 99: 1544-1551
- Common variable immunodeficiency patient classification based on impaired B cell memory differentiation correlates with clinical aspects.J Clin Immunol. 2003; 23: 385-400
- The EUROclass trial: defining subgroups in common variable immunodeficiency.Blood. 2008; 111: 77-85
- Impaired selective cytokine production by CD4(+) T cells in Common Variable Immunodeficiency associated with the absence of memory B cells.Clin Immunol. 2016; 166–167: 19-26
- ICOS deficiency is associated with a severe reduction of CXCR51CD4 germinal center Th cells.J Immunol. 2006; 177: 4927-4932
- An antibody-deficiency syndrome due to mutations in the CD19 gene.N Engl J Med. 2006; 354: 1901-1912
- Novel mutations in a Japanese patient with CD19 deficiency.Genes Immun. 2007; 8: 663-670
- Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans.Nat Genet. 2005; 37: 820-828
- Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency.Nat Genet. 2007; 39: 429-430
- Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR.Blood. 2012; 15: 2552-2555
- Laboratory evaluation of primary immunodeficiencies.J Allergy Clin Immunol. 2010; 125: S297-S305
- Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome.Blood. 2005; 105: 1881-1890
- The autoimmune lymphoproliferative syndrome: an experiment of nature involving lymphocyte apoptosis.Immunol Res. 2008; 40: 87-92
- Investigation of suspected deficient Fas-mediated apoptosis in a father and son.Cytometry. 2001; 43: 195-198
- Molecular and phenotypic abnormalities of B lymphocytes in patients with Wiskott-Aldrich syndrome.J Allergy Clin Immunol. 2014; 133: 896-899
- Wiskott-Aldrich Syndrome protein deficiency perturbs the homeostasis of B cell compartment in humans.J Autoimmun. 2014; 50: 42-50
- Flow cytometric analysis of Wiskott-Aldrich syndrome (WAS) protein in lymphocytes from WAS patients and their familial carriers.Blood. 1999; 93: 756-757
- Phenotypic perturbation of B cells in the Wiskott-Aldrich syndrome.Clin Exp Immunol. 2005; 139: 297-305
- Determination of carrier status for the Wiskott-Aldrich syndrome by flow cytometric analysis of Wiskott-Aldrich syndrome protein expression in peripheral blood mononuclear cells.J Immunol. 2000; 165: 1119-1122
- Deficiencies in CD4+ and CD8+ T cell subsets in ataxia telangiectasia.Clin Exp Immunol. 2002; 129: 125-132
- A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia.Cytometry A. 2008; 73: 508-516
- Nijmegen breakage syndrome (NBS).Orphanet J Rare Dis. 2012; 28;7: 13
- The defect in humoral immunity in patients with Nijmegen breakage syndrome is explained by defects in peripheral B lymphocyte maturation.Cytometry A. 2012; 81: 835-842
- Clinical and immunophenotypic features of atypical complete DiGeorge syndrome.Pediatr Int. 2013; 55: 2-6
- Thymic and bone marrow output in individuals with 22q11.2 deletion syndrome.Pediatr Res. 2015; 77: 579-585
- Thymic output: assessment of CD4+ recent thymic emigrants and T cell receptor excision circles in infants.Cytometry B Clin Cytom. 2017; 92: 249-257
- Low thymic output in the 22q11.2 deletion syndrome measured by CCR9+CD45RA+ T cell counts and T cell receptor rearrangement excision circles.Clin Exp Immunol. 2010; 161: 98-107
- Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: forkhead box protein 3 mutations and lack of regulatory T cells.J Allergy Clin Immunol. 2007; 120: 744-750
- Molecular and cellular pathogenesis of X-linked lymphoproliferative disease.Immunol Rev. 2005; 203: 180-199
- XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.Nature. 2006; 444: 110-114
- Using flow cytometry to screen patients for X-linked lymphoproliferative disease due to SAP deficiency and XIAP deficiency.J Immunol Methods. 2010; 362: 1-9
- Activation-dependent T cell expression of the X-linked lymphoproliferative disease gene product SLAM-associated protein and its assessment for patient detection.Int Immunol. 2002; 14: 1215-1223
- Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members.Blood. 2005; 105: 3066-3071
- Early and rapid detection of X-linked lymphoproliferative syndrome with SH2D1A mutations by flow cytometry.Cytometry B Clin Cytom. 2011; 80: 8-13
- Phagocyte immunodeficiencies and their infections.J Allergy Clin Immunol. 2004; 113: 620-626
- Phagocytic ability of neutrophils and monocytes in neonates.BMC Pediatr. 2011; 11: 29
- Diagnostic assays for chronic granulomatous disease and other neutrophil disorders.Methods Mol Biol. 2014; 1124: 517-535
- Chronic infantile neurological cutaneous and articular (CINCA) syndrome: a review.Orphanet J Rare Dis. 2016; 11: 167
- Chronic infantile neurological cutaneous articular syndrome: CD10 over-expression in neutrophils is a possible key to the pathogenesis of the disease.Eur J Pediatr. 2003; 162: 669-673
- MECP2 duplication syndrome.Mol Syndromol. 2012; 2: 128-136
- Overexpression of methyl-CpG binding protein 2 impairs T(H)1 responses.Sci Transl Med. 2012; 4: 163ra158
Article info
Footnotes
Disclosure Statement: The authors have nothing to disclose.
Identification
Copyright
© 2017 Elsevier Inc. All rights reserved.
