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Primary Immunodeficiencies: a Diagnostic Approach

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Primary Immunodeficiencies: a Diagnostic Approach Edition no. 4 PATHCHby Dr Sylvia van den BergAT and Dr Cathy van Rooyen Endorsed by the Infectious Diseases Peer Group Primary immunodefi ciencies: A diagnostic approach Primary immunodefi ciencies are a group of • Absent thymic shadow on CXR heterogenous genetic disorders that cause Most children referred for recurrent infections do not have an an enhanced susceptibility to recurrent and underlying immunodefi ciency. The majority of children will have severe infections. increased exposure, allergy (~30%), other chronic diseases (~10%) or an anatomic defect. Only about 10% will have an Features that suggest a primary immunodefi ciency. immunodefi ciency: Infections with certain sentinel (First three features most predictive) organisms should set off the alarm bells and include the following: • Family history of immunodefi ciency or unexplained early death (<30 years) • Recurrent sinopulmonary infections with encapsulated • Failure to thrive bacteria (S. pneumoniae, H.infl uenzae type b, M. catarrhalis) • Need for IV antibiotics and/or hospitalisation to clear infection • Pneumocystic jirovecii pneumonia • Six or more new infections in one year • Pseudomonas aeruginosa infections • Two or more sinus infections or pneumonia in one year • Enteroviral meningoencephalitis • Four or more new ear infections in one year • Cryptosporidium enteric infections • Two or more episodes of sepsis or meningitis in a lifetime • Recurrent infections with S.aureus, coagulase negative • Two or more months of antibiotics with little or without an effect staphylococci, Serratia marcescens, • Recurrent or resistant Candida infections Chromobacterium violaceum or Aspergillus spp. • Recurrent tissue or organ abscesses • Recurrent herpes viral infections • Infection with an opportunistic pathogen • Infections with live vaccines (including BCG, oral polio • Structural damage due to infections vaccine, measles, rota virus, varicella) • Complications from a live vaccine • Prolonged or recurrent Candida infections • Chronic diarrhoea • Recurrent invasive neisserial infections • Non-healing wounds • Systemic or deep infections with nontuberculous • Extensive skin lesions mycobacteria • Persistent lymphopaenia • Unexplained fever or autoimmunity For more information or clinical queries, contact: Dr Cathy van Rooyen Additional features in infants Tel: 012 678 0613/6 include the following: Email: [email protected] Dr Sylvia van den Berg • Delayed umbilical separation (>30 days) Tel: 012 678 0613/7 • Congenital heart defects Email: [email protected] • Hypocalcaemia Please contact your local Ampath pathologist for more information. Edition no. 4 Major subtypes of primary immunodefi ciencies* and expected clinical fi ndings: Subtype: Age at onset: Pathogens: Infections: Humoral immunodefi ciencies: >6 months; can present Encapsulated bacteria Sinus infections X-linked or autosomal recessive aggamma- in adulthood; CVID can Fungi and parasites Otitis media globulinemia present in adolescence Giardia lamblia Bronchiectasis CVID Cryptosporidium Chronic conjunctivitis IgG subclass defi ciency species Pyoderma IgA with IgG subclass defi ciency Enterovirus Enteroviral infections Selective IgA defi ciency Infectious diarrhoea Specifi c antibody defi ciency with normal immunoglobulins Transient hypogammaglobulinemia of infancy Combined immunodefi ciencies: <6 months Mycobacterium species Opportunistic infections T-B+ SCID Viruses: Severe recurrent bacterial and viral T-B- SCID Cytomegalovirus infections Omenn Syndrome Epstein-Barr Oral thrush CD40 ligand defi ciency Varicella virus Excessive diarrhoea ZAP-70 defi ciency Enterovirus, etc. MHC class I defi ciency Candida MHC class II defi ciency Pneumocystis jirovecii Complete DiGeorge Syndrome DOCK8 defi ciency Innate immunodefi ciencies: Childhood Mycobacteria and Recurrent sinopulmonary infections NK cell defi ciency other pyogenes with encapsulated bacteria AIRE defi ciency Candida albicans Mucocutaneous candidiasis NEMO defi ciency Histoplasma Herpes viral infections Herpes simplex encephalitis capsulatum Chronic mucocutaneous candidiasis Aspergillus fumigatus WHIM Coccidioides immitis Herpes viral infection Human papilloma virus Phagocytic disorders: Infancy or childhood S. aureus Skin, oral cavity and anorectal Chronic granulomatous disease Pseudomonas infections Leukocyte adhesion defi ciencies S. marcescens Poor wound healing Defects of neutrophil differentiation Nocardia Abscesses MSMD Klebsiella spp Salmonella serovar typhi Mycobacteria BCG Candida aspergillus Complement defi ciencies: Any age Neisserial infections Pyogenic infections with C1-9 defi ciencies S. pneumoniae encapsulated organisms Mannan binding lectin defi ciency H. infl uenzae type b Meningococcal and gonococcal Factor D, I and H defi ciencies Mycobacteria infections Legionnella Tuberculosis Legionnaire’s disease Hemolytic-uraemic Syndrome Well-defi ned syndromes with Infancy or childhood immunodefi ciencies: Wiskott-Aldrich Syndrome Ataxia-telangiectasia DiGeorge anomaly Hyper-IgE syndromes Dyskeratosis congenita *The major subtypes of immunodefi ciencies are provided with some examples. A complete classifi cation can be obtained from Al-Herz W, Bousfi ha A, Casanova JL et al. Primary immunodefi ciency diseases: An update on the classifi cation. International Union of Immunological Societies Expert Committee for Primary Immunodefi ciency. Frontiers in Immunology 2011: 2:1–26. (CVID: Common variable immunodefi ciency; SCID: Severe combined immunodefi ciency; MSMD: Mendelian susceptibility to mycobacterial disease; WHIM: Warts, hypogammaglobulinaemia, infections, myelokathexis) Adapted from: Merritt TH, Segreti J. The role of the infectious disease specialist in the diagnosis and treatment of primary immunodefi ciency disease. Infectious diseases in clinical practice, 2011;19:316–325 and Al-Herz W, Bousfi ha A, Casanova JL et al. Primary immunodefi ciency diseases: An update on the classifi cation. International Union of Immunological Societies Expert Committee for Primary Immunodefi ciency. Frontiers in Immunology 2011: 2:1–26. Please contact your local Ampath pathologist for more information. Edition no. 4 Investigations 2. T-cell defects – these account for about 15% of Abnormal results need to be verifi ed by a repeat investigation when primary immunodefi ciencies the patient is well, as external factors like infections and medication T-cell defects usually present at a very young age with life- may have a transient infl uence on the test results. threatening infections due to a wide range of different pathogens, often opportunistic infections. Infections are persistent and severe, 1. Test for HIV, CMV, EBV, TB, disseminated BCGosis, PCP and other and viruses, fungi and intracellular bacteria are often involved. A infections where relevant family history of unexplained, especially infective deaths, should 2. FBC and differential count prompt further investi-gation. 3. CRP and ESR 4. Chest X-ray: To determine the presence of a thymic shadow • HIV ELISA or PCR in babies: done in all patients suspected of and to assess the presence of lung disease in children and having a T-cell defi ciency adults • FBC and differential: patients are usually lymphopaenic with 5. Screen for cystic fi brosis or allergies where indicated persistent absolute lymphocyte counts <1.5 X109 in older chil- dren and <2.5 X 109/l in younger children 1. Antibody (humoral) defi ciencies – these account • TREC PCR: neonatal screening on NBS or EDTA blood to ex- for about 70% of primary immunodefi ciencies clude SCID before administration of any live vaccines and for Patients suffering from antibody defi ciencies have a problem early diagnosis and search of bone marrow transplant with recurrent, severe upper (recurrent pneumonia) and lower • Lymphocyte immunophenotyping to enumerate the lympho- respiratory tract infections (i.e. recurrent otitis media, sinusitis), cyte subtypes (B-, T- and NK-cells) especially with pyogenic organisms, such as S. pneumoniae and • Lymphocyte proliferation tests to mitogens H. infl uenzae. - PHA - PMA Appropriate initial tests would be the following: - PMA+ionophore • Full blood count and differential - CD3 • KREC PCR – Neonatal screening on neonatal blood spot (NBS) - CD3 + IL-2 or EDTA blood to exclude agammaglobulinaemia before - CON A administering live oral polio vaccine - PWM • Quantitative immunoglobulins prior to the administration of immuno-globulins: • Lymphocyte proliferation tests to recall antigens IgG, M, A and E - Varicella zoster • IgG subclasses - Candida • Specifi c antibody titres to S. pneumoniae, H. infl uenzae, - Tetanus tetanus and diphtheria. If specifi c antibody levels are low, booster immunisations should be administered and titres For infants and young children, all of the lymphocyte proliferation measured again three to four weeks later. tests to mitogens should be ordered, whereas only LPT to candida, varicella zoster and PHA should be ordered in adults. Secondline testing: • Secretory IgA • Specialised immunopenotyping: - Naive and memory CD4- and CD8-cells Should any abnormality be detected, additional tests should be - Alpha/beta, gamma/delta T-cells done: - HLA DR • Lymphocyte immunophenotype: to determine total B-cell - Common gamma chain numbers - Interleukin 7 Receptor alpha • KREC PCR in patients with agammaglobulinaemia - Test repertoire will be expanded in the near future. Please • B-cell function testing for B-cell activation markers contact the laboratory for further information • Memory B-cells: fl ow cytometric assay to assess germinal B-cell
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