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Fatima Gutierrez M.D.. Learn when to Suspect an Immune Deficiency Important Aspects of History Taking Physical Exam Clues Initial Laboratory Work-up When.

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Presentation on theme: "Fatima Gutierrez M.D.. Learn when to Suspect an Immune Deficiency Important Aspects of History Taking Physical Exam Clues Initial Laboratory Work-up When."— Presentation transcript:

1 Fatima Gutierrez M.D.

2 Learn when to Suspect an Immune Deficiency Important Aspects of History Taking Physical Exam Clues Initial Laboratory Work-up When to get an Immune Consult Overview of Specialized Tests

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4 8 or more new ear infections within one year 2 or more serious sinus infections within 1 year Two or more months on antibiotics with little effect 2 or more pneumonias within 1 year Failure of an infant to gain weight or grow normally

5 Recurrent, deep skin or or organ abscesses Persistent thrush in mouth or elsewhere on skin, after age 1 Need for IV antibiotics to clear infections 2 or more deep-seated infections Family history of Primary Immunodeficiency

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7 Sinusitis/Pneumonia CF Allergic Rhinitis Anatomy Low Antibody levels Protein-losing entropathy, nephropathy Severe eczema Burns 2° Immunodeficiency Malnourishment Diabetes Sickle Cell

8 Primary Immunodeficiencies Can Be Categories by their Defect: Cellular Immunity (T-Cells) Humoral Immunity (B-Cell) Phagocytes Complement

9 Bone Marrow B-lymphocytes Stem Cell Plasma cells Immunoglobulins T- cells

10 T-Cells directly Attack Foreign Antigens Opportunistic infections Candida sp, Pneumocystis jiroveci Persistent Thrush Diarrhea/Malabsorption Poor Growth/Failure to Thrive

11 Unable to make specific antibodies Multiple / Severe Bacterial Infections Persistent Upper Respiratory Tract Infections Streptococcus, Haemophilis Usually seen after 6 months when maternal antibodies lost Growth usually normal unless patient with chronic infections

12 Natural Killer Cells – directly attack cells infected with Virus Phagocytes – ingest and kill microorganisms Chronic Granolomatous Disease – - Infections caused by catalase + organisms LAD No Pus Gingivitis/Periodontitis Skin Infections, Liver, GI Tract

13 Composed of 30 proteins Function in ordered integrated fashion to defend against infection and produce inflammation C5- C8 deficiency associated with autoimmune C1-C4 deficiency Associated with Rheumatic Disorders Pyogenic Infections C5-C9 Complement deficiency Neiserria Infections Basic Screen – CH50 – measures function of alternate pathway

14 Immunodeficiency Primary 1:500 – 1:100,000 - All 1:500 IgA def 1:100,000 SCID 1:200,000 CGD Secondary 1:300 - HIV 1:5 unaware of their HIV

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16 History Infection History Sex Consanguinity History of Miscarriage/ Death in Infants Primary Immune Deficiency in Family History of Autoimmune/Connective Tissue d/o Environment (Smoke, allergies) Delayed Cord Separation (LAD) HIV risk factors

17 Eczema, Wiskott Aldrich or Hyper IgE? Wiskott Aldrich Thrombocytopenia Small platelets Hyper IgE -Job Syndrome Skin infections – Staph Sinusitis Coarse Facies Retain Primary Teeth

18 Look at Mother Incongentia Pigmenti Conical Teeth

19 Nuclear Factor – kB Essential Modulator X-Linked Defect in Cellular Immunity Variable Immunoglubulin levels Normal B-cell numbers Recurrent bacterial sinopulmonary and oportunistic Infections Ectodermal Dysplasia Conical Teeth Treatment Stem Cell Transplant

20 Lymphocyte count Absolute Lymphocyte count Lymphopenia Screen for B and T cell Deficiencies Lymphocytosis Omenn Syndrome, Leukocyte Adhesion Deficiency Neutrophil Count Leukocyte Adhesion Deficiency - >100,000/mm 3 Platelet Size and Number Wiskott Aldrich

21 WBC total x %lymphocytes = Absolute Lymphocyte Count (ALC) Normal absolute lymphocyte count 10 th - 90 th percentiles (#/μL) by age 0-3months 3400-7600 6-12months3900-9000 1-2 years3600-8900 Look at normal values based on Age!!

22 IgG, IgM, IgA, IgE IgG in young infants less reliable –largely maternal Lab Variations! Age Adjusted Normals Low IgG in Infant Hypogammaglobulinemia of Infancy Undetectable IgA Primary Immune Deficiency High Levels IgM + Absence of other Ig Hyper IgM IgE Atopic Disease or Parasitic Illness, Hyper IgE

23 Immunoglobulin Development IgG nadir for infants is age 3 months to 1 year of life Premature infants will lack adequate maternal IgG Note in IgG at approximately 6 months of life (maternal vs infant sources) IgM production starts immediately after birth IgA rate of synthesis is slowest

24 THYMUS! May shrink in response to stress/surgery/infe ction Thymus continues to grow until teens Largest size relative to body weight at birth No Thymus

25 T-cell Response Common Antigens Candida Trychophyton Tetanus Diphtheria PPD Anergy (no response) Immune suppr. Meds- Steroids Infants < 6 months / 2yrs Malnutrition Collagen Vascular Disease Fever- Leukocytosis Reaction measured at 48 hours

26 HIV – DNA when IgG unreliable ELISA tests IgG Infants have Maternal IgG Severe Hypogammaglobulinemias Liver Disease Guidelines : www.aidsinfo.nih.gov

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28 Measurement of Specific T, B, NK and phagocytic cells

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31 NK Cells Tcells- B-Cells The Case of SCID

32 Tests your Bodys Ability to Make Antibodies – Majority of Vaccines activate B- cells in the presence of T- cell Tests for Common Vaccines Diphtheria Tetanus Streptococcus Tests for Common Vaccines Diphtheria Tetanus Streptococcus Normal Response Diphtheria > 0.1 Tetanus > 0.1 Or… 4 fold increase of baseline 1 month after vaccine given Normal Response Diphtheria > 0.1 Tetanus > 0.1 Or… 4 fold increase of baseline 1 month after vaccine given

33 Streptococcus – Note minimal response Serotypes in Prevnar: 4, 6B, 9V, 14, 18C, 19F, 23F Serotypes in Prevnar: 4, 6B, 9V, 14, 18C, 19F, 23F Serotypes in PCV13 Serotypes 1, 3, 4, 5, 6A, 6B, 7F, 9V, 14, 18C, 19A, 19F, 23F Serotypes in PCV13 Serotypes 1, 3, 4, 5, 6A, 6B, 7F, 9V, 14, 18C, 19A, 19F, 23F

34 Measures the ability of lymphocytes to respond to mitogens and Specific antigens Strongly Mitogenic on T-Cells - PHA (Phytohemagluttin) - ConA (Concanavalin-A) Stimulates T&B cells (Mitogen - Pokeweed Strongly Mitogenic on T-Cells - PHA (Phytohemagluttin) - ConA (Concanavalin-A) Stimulates T&B cells (Mitogen - Pokeweed Antigens: - Candida -Tetanus - Dipthera *Prior exposure required for response !! > 2yrs age Antigens: - Candida -Tetanus - Dipthera *Prior exposure required for response !! > 2yrs age Minimal Response Assay working well

35 Early Recognition of Primary Immune Deficiency – Many Primary Immune Deficiencies are Lethal! Recognize Lab Value Diversity Dont forget to look for HIV

36 Noroski MD, L., Shearer MD, W. Short Screening for Primary Immunodeficiencies in the Clinical Immunology Laboratory. Clinical Immunology and Immunopathology. Vol. 86, No3, March pp. 2237-245, 1998 Fleisher, Shearer, Kotzin, Schroder. Clinical Immunology – Principles and Practice 2 nd Ed. Rich, R. Schmitz PhD, Folds PhD. Clinical and Laboratory Assesment of Immunity. Journal of Allergy and Immunology 2003: 111:S702-11 American Academy of Allergy Asthma and Immunology – www. aaai.org Immune Deficiency Foundation – primaryimmune.org Jeffrey Modell Foundation www. jfmworld.org


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