Laboratory evaluation of primary immunodeficiencies. Kaspar René Nielsen Dept. Of Clinical Immunology And Transfusion Medicine
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1 Laboratory evaluation of primary immunodeficiencies Kaspar René Nielsen Dept. Of Clinical Immunology And Transfusion Medicine
2 More than 200 primary immunodeficeincies (PID) have been described Cant A Chapel H. Classification of primary immunodeficiency diseases by the International Union of Immunological Societies (IUIS) Expert Committee on Primary Immunodeficiency
3 Basic evaluation of the immune system Available at all the University Hospitals Can often be performed on day to day basis, if indicated Quantitative Blood cell count (leukocytes) S-immunoglobulin's (Igs) Isoagglutinins (anti-a and anti-b) CH50 and AH50 (complement function) Immunophenotyping (enumeration of leukocyte subpopulations) Neutrophil oxidase function (intracellular killing) Qualitative Specific antibody response (post immunization) T-cell proliferation assays
4 Advanced evaluation of the immunesystem Second line test except for known familial cases or very suspicious clinical presentation Often only performed in a few labs in Denmark May require shipping of samples to labs outside DK Please ask you local immunologist who will be delighted to help you Examples: Special B- and T-cell subpopulations NK-cell function Antibodies against neutrophil surface antigens Specific activation assays (e.g. TLR function) Immunophenotyping for specific intra or extracellular molecules (e.g. IFNGR1, BTK) Genetic testing (e.g. del22q11.2, TACI, B-cell somatic hypermutation,tnfrsf1) Laboratory evaluation of primary immunodeficiencies. Oliveira JB, Fleisher TA Primary immunodeficiencies update. J Allergy Clin Immunol Common variable immunodeficiency - an update. Salzer U, Warnatz K, Peter HH 2012
5 Some (very) general aspects of laboratory testing Normal range = 95% confidence interval 95% CI, 5/95 percentiles, prediction intervals Never rely on lab values only Always repeat an abnormal lab test that do not match the clinical presentation
6 Some general aspects of laboratory evaluation Age related differences are significant Always use age specific reference intervals Absolute count important Be aware of gender and ethnic variation S-IgM S-IgA Comans-Bitter et al Stoop et al. 1969
7 Peripheral blood sample general immune evaluation Complement, Ig s, antibodies Whole blood for immunophenotyping DNA for genetic testing Neutrophils for chemotaxis, chemiluminescence and MAIGA PMC for proliferation / stimulations
8 Complement function Defects in classical pathway: CH50 ~ 0% Defects in alternative pathway: AH50~ 0% Hemolytic assays: Sample incubated with sensitized sheep erythrocytes (CH50) or non-sensitized rabbit erythrocytes (AH50). Erythrocytes disintegrate Lysis measured by decreased optical density Deficient sera can be used to characterize discrete defects Nilsson B, Ekdahl KN. 2012
9 Case - I Twins, pneumococcal sepsis in first months of life No familial history of immunodeficiency Normal cell counts Twin A: CH50: < 10% Twin B: CH50: <10% CH50 with deficient sera: C2 < 10% Patient A B Mother Father C2type 1 defekt homozygot homozygot heterozygot heterozygot
10 Case - II 1 year old child Recurrent severe sinopulmonary infections Servere hypogamma Work up?
11 Flowcytometric immunophenotyping T-cells (CD3,CD4,CD8), B-cells (CD19,CD20), NK-cells (CD16,CD56) Evaluation for a specific cell proteins (CD18, CD40/CD154, IFNgR, IL-12R) Intracellular proteins: (BTK, FOXP3, STAT-1, STAT-4) Assessment for biologic effect Memory/naive T cells Memory B cell - isotype switch (CD27, IgM, IgD) Regulatory T- and B-cells
12 Flowcytometry Advanced microscopy FAST! cells/sec Multicolor cytometry allows for detalied charactization of cells Qualitative, semiquantitative, quantitative Ormerod MG. Flowcytometry 2. edition
13 Size and granularity
14 Subpopulations
15 Case - II PATIENT PATIENT B-cells T-cells Controle Controle
16 BTK staining XLA patient
17 Characteristics of discrete subpopulations Class switched memory B-cells CVID
18 Classification of CVID more data needed Bergbreiter et al. 2009
19 Case - III Recurrent infections with atypical mycobacteria
20 Case - III Recurrent infections with atypical mycobacteria p Storgaard M, Varming K, Herlin T. 2006
21 CASE - IV 10 months old girl Omphalitis at birth Conjunctivitis Nail infections Pneumonias Deep skin infections CD18 CD18 CD18 CD18 Normal Igs + complement Normal subpopulations Severe neutrocytosis
22 CASE - V Cntrl. N-associated IgG Pt. N-associated IgG 6 months old girl Servere pneumonia Neutropenia 0.11x10 9 Autoimmune neutropenia Flow + MAIGA: anti-hna-1a HNA1a+,1b+ Genotype HNA-1a HNA-1b HNA-1c Pt Pos Neg Neg Mater Pos Pos Neg Commercial Luminex based HNA-antibody kit Anti-HNA-1a Anti-HNA-1b Anti-HNA-1c Pt. Neg Neg Neg Mater Neg Neg Neg HNA1a-,1b+ HNA1a+,1b- Nielsen KR. et al. 2011, 2012
23 CASE - VI Granulocyte crossmatch 4 week old boy Admittet with servere bacterial airway infection Neutropenia 0.3x10 9 /L Neutrophil count 1.1 at control 3 weeks after IgG FITC Neonatal alloimmune neutropenia IgG FITC Kølbæk M, Nielsen KR. 2010
24 Evaluation of cell function Lymphocyte proliferation (mitogens, antigens, allogenic cells NK-cell degranulation Granulocyte superoxide (Flowcytometry, chemiluminescens) Granulocyte chemotaxis Inflammatory mediator production (TLR signalling)
25 Case - VII 18 months old boy Deep skin infections, sinopulmonary infections, salmonella osteomyelitis Normal cell count, Igs, complement and immunophenotype Chemilumiscens assay Activation of neutrophils Luminol (CGD and MPO) Lucigenin (MPO sensitive) X-linked CGD Sørensen NB, Varming K. 2013
26 CGD - variants
27 Lymphocyte proliferation (T-cell proliferation) SCID ~ 0% DiGeorge, CVID, others: Variate degress of impairment
28 NK-cell degranulation Popko K. 2013
29 TLR signalling
30 TLR signalling Takeishi et al. 2009
31 Evaluating TLR Response TLR specific ligand 37ºC 5% CO2 MC MC MC PBMC 2.0 x 10 5 cells/well Supernatant Response Von Bernuth, et al, Pediatrics, 2006 Multiplex assay TNF ELISA
32 ng/ml Inflammatory pathway function Cytokinprofil LPS stimulation IL-6 IL-10 TNFa 0 kontrol ustim kontrol stim. OBS stat-4 ustim. OBS stat-4 stim. CVID ustim. CVID stim. OBS NEMO ustim Obs NEMO stim
33 Genetic testing Genetic testing is emerging as an important diagnostic test in resolving possible PID Human genome 3.3x109 bases Frederick Sanger developed DNA sequencing methods in 1977 Cost of Sanger sequencing :$2400 / 10*6 bases Next generation sequencing 0.1-1$ /10x6 bases Test of prognostic and diagnostic value often used: TACI in CVID, 22q11.2 deletion, CGD :CYBB, CYBA,, NCF1, NCF2, Somatic hypermutation in B-cells Mutations in SCID, Autoinflammatory syndroms TNFRSF1A Genotype vs. phenotype Difficult to address the importance of a new mutation found All individuals have a SNPs at 1/1000 bases Multigene diseases and gene - gene interactions epistasis, Sequencing for the Diagnosis of Mendelian Disorders. Yang et al. NEJM 2013
34 Genetic testing genetic screening? SCID screening from PKU cards Established f:1/ newborn False positives?
35 Thank you!
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1. Specificity: specific activity for each type of pathogens. Immunity is directed against a particular pathogen or foreign substance.
L13: Acquired or adaptive (specific) immunity The resistance, which absent at the time of first exposure to a pathogen, but develops after being exposed to the pathogen is called acquired immunity. It
PROBLEMS WITH THE IMMUNE SYSTEM. Blood Types, Transplants, Allergies, Autoimmune diseases, Immunodeficiency Diseases
PROBLEMS WITH THE IMMUNE SYSTEM Blood Types, Transplants, Allergies, Autoimmune diseases, Immunodeficiency Diseases Antigens on red blood cells determine whether a person has type A, B, AB, or O blood
Defects of Innate Immunity
Defects of Innate Immunity TLR signalling IRAK4 and MyD88 AR Same clinical phenotype for both genes (Recurrent) invasive bacterial infections: Meningitis and septicemia >> skin Pneumococcus >> Staph aureus
Chapter 21: Innate and Adaptive Body Defenses
Chapter 21: Innate and Adaptive Body Defenses I. 2 main types of body defenses A. Innate (nonspecific) defense: not to a specific microorganism or substance B. Adaptive (specific) defense: immunity to
Immunopathology. 2-Patterned hemodynamic responses, cell surface associated and soluble mediator systems (e.g., complement and coagulation systems).
Immunopathology The chief role of the immune system is to protect the host from invasion by foreign agents. Immune responses can be elicited by a wide range of agents including toxins, drugs, chemicals,
Immunodeficiency. By Dr. Gouse Mohiddin Shaik
Immunodeficiency By Dr. Gouse Mohiddin Shaik Immunodeficieny Immunodeficiency is failure of immune system to protect against disease or malignency Immunodeficiency is of two types Primary Secondary immunodeficiency
Primary Immunodeficiency Program at AUBMC (In collaboration with Children's Hospital in Boston and Four Regional Hospitals in the Middle East):
Primary Immunodeficiency Program at AUBMC (In collaboration with Children's Hospital in Boston and Four Regional Hospitals in the Middle East): Studies of Immunological Deficiency Syndromes Congenital
Innate Immunity: (I) Molecules & (II) Cells. Part II: Cells (aka the Sentinels)
Innate Immunity: (I) Molecules & (II) Cells Stephanie Eisenbarth, M.D., Ph.D. FOCIS Advanced Course 2/19/18 Department of Laboratory Medicine Yale School of Medicine Department of Immunobiology Yale School
Immunodeficiency and Autoimmunity
Immunodeficiency and Autoimmunity JOCELYN JIANG WESTMEAD HOSPITAL ICPMR Case 1 42 year old woman referred for investigation for lymphopenia Incidental finding on routine bloods Lymphocyte count 0.5 x 10^9/L