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Guide to Primary Immunodeficiencies PowerPoint Presentation

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Description : This medical presentation titled "Guide to Primary Immunodeficiencies" talks about primary immunodeficiencies including disorders of humoral immunity-affecting B cell differentiation and antibody production, disorders of Cellular Immunity-T cell defects, combined T cell and B cell defects, phagocytic defects, and complement deficiencies.

Tags : Primary Immunodeficiencies, microbial infections, immune functions, humoral, cell- mediated immunity, phagocytosis, complement, Systemic Responses to Infection, Cells of the Immune System, Clinical Features, Infections

Published on : Apr 26, 2021 | Views : 1271 | Downloads : 1

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April 27, 2021 1 The PNP’s Guide toPrimary Immunodeficiencies …So How Many Ear Infections Are too Many? M. Elizabeth M. Younger CRNP, PhD Assistant Professor, Pediatrics The Johns Hopkins University School of Medicine Baltimore, Maryland Presented by: M. Elizabeth M. Younger CRNP, PhD
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Disclosures Consultant, CSL Behring Speaker, CSL Behring Advisory Boards: CSL Behring RMS Medical Products Immune Deficiency Foundation Chair, Nurse Advisory Committee
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April 27, 2021 4 Systemic Responses to Infection Host Defenses Skin Mucus Membranes Normal Flora Non-Specific Responses Complement Phagocytes Natural Killer Cells Specific Responses Antibody Formation Cellular Immunity
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Cells of the Immune System
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April 27, 2021 6 Primary Immunodeficiencies ~150 recognized defects of immunologic function Another 39 disorders of which immunodeficiency is recognized as a component May present at any age Do not always present with severe infections
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April 27, 2021 7 Primary Immunodeficiencies Disorders of Humoral Immunity-affecting B cell differentiation and antibody production Disorders of Cellular Immunity-T cell defects Combined T cell and B cell defects Phagocytic Defects Complement Deficiencies
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April 27, 2021 8 Does your patient have a primary immunodeficiency?
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April 27, 2021 10
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Things to consider… What kinds of infections How frequently Co-morbidities Factors that might contribute to infections (e.g. day care!) Family history April 27, 2021 11
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April 27, 2021 12 Imperatives for the Primary Care Provider Accurate record of immunizations Maintain accurate and ongoing growth charts Complete family history with genogram Follow-up after antibiotic treatment (i.e. did what you prescribed work?)
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Screening Tests for Primary Immunodeficiencies
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…But always start with a CBC
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Rule of 2/3’s For a child under the age of 3 years: 2/3 of WBC should be lymphocytes 2/3 of lymphocytes should be T cells 2/3 of T cells should be CD4 cells For someone older than 3 yoa 2/3 of WBC should be neutrophils 2/3 of lymphocytes should be T cells 2/3 of T cells should be CD4 cells 15
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Normal Ranges of Immunoglobulins Immunoglobulins (mg/dL) Age IgG IgA IgM Newborn 636-1606 1-4 6-25 1-3 months 176-906 1-53 17-105 4-6 months 172-814 4-84 27-108 7-9 months 217-904 11-90 34-126 10-12 months 294-1069 16-84 41-149 1 year 345-1213 14-106 43-173 2 years 424-1051 4-123 18-168 3 years 441-1135 22-159 47-200 4-5 years 463-1236 25-154 43-196 6-8 years 633-1280 33-202 48-207 9-10 years 608-1572 45-236 52-242 Adult 639-1349 70-312 56-352
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April 27, 2021 17 Clinical Features of Immunodeficiency Increased susceptibility to infection Predisposition for autoimmune or inflammatory diseases, e.g. - Inflammatory bowel disease - Autoimmune cytopenias - Type I Diabetes - Juvenile rheumatoid arthritis Predisposition for lymphoreticular cancers Syndrome complex
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April 27, 2021 18 Infections in Immunodeficient Patients Chronic/recurrent infections without other explanation Infection with organisms of low virulence Infection of unusual severity Any site of infection is possible, but different kinds of infection are characteristic of the specific immunodeficiency suspected
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April 27, 2021 19 Disorders of Humoral Immunity 1. Transient Hypogammaglobulinemia of Infancy X-linked Agammaglobulinemia (Bruton’s Agammaglobulinemia, BTK deficiency, X-LAG) Common Variable Immunodeficiency (CVID) Selective IgA deficiency
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April 27, 2021 20 Transient Hypogammaglobulinemia of Infancy Characterized by Low serum immunoglobulins Little antibody response to vaccines Frequent sinopulmonary infections Condition may last into pre-school years Diagnosis can only be made definitively in retrospect
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April 27, 2021 21 Care and Treatment of the Child with Suspected Transient Hypogam Serial monitoring of immunoglobulins and antibody titers Reimmunization may be necessary PNP needs to be aware that infections may require longer courses of antibiotics for treatment than usually prescribed Gamma globulin is seldom necessary Any fever of 101.5F or greater requires that the child have a CBC, blood culture and physical exam Live viral vaccines should be held until immunocompetency is demonstrated
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April 27, 2021 22 X-linked Agammaglobulinemia 1:200,000 live births No/few B cells, normal T cells No tonsils, small lymph nodes Usually not diagnosed until after 4 months when maternal immunity wanes
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April 27, 2021 23 Common Variable Immunodeficiency (CVID) Approximately 20% of these patients are diagnosed under the age of 16 Characterized by low serum immunoglobulins and susceptibility to infections because of impaired antibody responses Sinopulmonary infections are most common Predisposition for autoimmune diseases
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April 27, 2021 26 Treatment of Humoral Immune Disorders Regular infusions of pooled human gamma globulin (either IV every 3-4 weeks or subq weekly) Aggressive treatment of infections Surveillance for co-morbidities
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April 27, 2021 27 Primary Care of the Child with Humoral Immunity Defects Low tolerance for fever, signs of infection No live viral vaccines (Varivax, MMR, Pro-Quad, Flu-Mist, Rota-Teq) Because of the increased incidence of autoimmune disease in this population, monitor growth curves, carefully assess new complaints or signs and symptoms of problems Do not need routine immunization since they do not make protective levels of antibodies
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April 27, 2021 28 Disorders of Cellular Immunity 1. Severe Combined Immunodeficiency (SCID)
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April 27, 2021 29 Severe Combined Immunodeficiency (SCID) Severe impairment of humoral and cell- mediated immune function Susceptibility to infection by virtually any microbe Unless treated, usually fatal within the first year of life 12 known genetic causes 45% X-linked 15% Adenosine Deaminase Deficiency
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April 27, 2021 30 Treatment of SCID Bone Marrow transplant Gamma globulin replacement therapy Antibiotic prophylaxis for PCP and fungal infections Gene therapy PEG-ADA (Adagen) IM 2 or 3 times per week (if etiology is ADA deficiency) Nutritional support
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April 27, 2021 31 Combined T cell and B cell disorders 1. DiGeorge Syndrome Wiskott-Aldrich Syndrome 3. Ataxia Telangiectasia
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April 27, 2021 32 DiGeorge Syndrome 22q11.2 deletion syndrome Velocardiofacial (VCF) syndrome Conotruncal anomaly face syndrome Autosomal dominant Opitz-G/BBB Incidence: 1 in 3,000 live births
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Fluorescence in situ Hybridization Korf B, N Engl J Med 1995;332:1219
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April 27, 2021 34 DiGeorge SyndromeCatch 22 Mnemonic C ardiac defects (75%) A bnormal facies (70%) T hymic a- or hypoplasia (60-77%) C left palate (69-100%) H ypocalcemia (17-60%) 22- chromosome 22
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April 27, 2021 35 C-Cardiac Defects Tetralogy of Fallot (17-22%) Interrupted Aortic Arch (14-15%) Ventriculoseptal defect (13-14%) Truncus arteriosus (7-9%)
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April 27, 2021 36 A-Abnormal Facies Ocular hypertelorism Lateral displacement of inner canthus Short palpebral fissure Low nasal bridge Nasal dysmorphism Small mouth Low set ears Cleft lip
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April 27, 2021 37 T-Thymic aplasia or hypoplasia Thymic aplasia requires thymic or bone marrow transplant Those with thymic hypoplasia must be protected from live viral vaccines, transfusions of unirradiated blood, and opportunistic infections until T cell numbers normalize 10% have delayed production of IgG 2 - 4 % have IgA deficiency
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April 27, 2021 38 C-Cleft Lip/Palate (velopharyngeal abnormality associated issues) Cleft palate (submucous cleft is common) Recurrent otitis media and sinusitis Problems with speech articulation
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April 27, 2021 39 H-Hypocalcemia Neonatal hypocalcemia occurs in 50-70% of patients Problem generally resolves with increased dietary calcium intake and growth of parathyroid glands Hypocalcemia can develop in older patients who are stressed by acute medical illnesses, trauma or cardiopulmonary bypass
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April 27, 2021 40 Variability of Phenotype Driscoll et al. J Med Genet 1993;30:813
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April 27, 2021 41 In a study of 195 patients: Associated Manifestations Speech delay and other neurodevelopmental problems (75%) Kidney and urinary tract defects (36%) Skeletal defects (18%) Feeding problems Psychiatric problems (onset of schizophrenia during adolescence)
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April 27, 2021 42 Autoimmune Disease in DiGeorge Patients Immune thrombocytopenia 200x  over rate in general population Juvenile rheumatoid arthritis 20x  over rate in general population Skin disease (psoriasis, vitiligo) Autoimmune hemolytic anemia Inflammatory bowel disease
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April 27, 2021 43 Neurodevelopmental Problems Delayed acquisition of language milestones At 2 y/o, 90% nonverbal or used only single words At 3 y/o, 80% nonverbal or used only words and simple phrases At 4 y/o, 30% nonverbal or not speaking in sentences Articulation disorders Cognitive abnormalities
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April 27, 2021 44 Primary Care of the DiGeorge Patient Once 22q11 deletion syndrome is identified, be prepared for a multi-dimensional approach Complex medical needs School problems Refer for genetic counseling Routine immunization if immunocompetent Antibiotic prophylaxis if T-cell numbers are low
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April 27, 2021 45 Wiskott-Aldrich Syndrome X-linked Clinical Presentation Small platelets (Low MPV) and/or thrombocytopenia Impaired antibody responses Recurrent bacterial, viral and fungal infections Eczema Associated Problems Increased incidence of autoimmune disease Increased incidence of malignancies, especially leukemias and lymphomas
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April 27, 2021 46 Primary Care of the Child with Wiskott-Aldrich Syndrome Vigilance for signs of bleeding Low tolerance for fever, signs of infection Treat eczema aggressively to prevent suprainfection
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Treatment of the Wiskott-Aldrich Patient Gamma globulin replacement therapy if antibody production is impaired Treatment of acute thrombocytopenia Platelet transfusion for acute bleed IV Gamma globulin Anti CD20 monoclonal antibody therapy (e.g. rituximab) Treatment of chronic thrombocytopenia Steroids Splenectomy April 27, 2021 47
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April 27, 2021 48 Ataxia Telangiectasia Autosomal recessive disease Ataxia (wobbly, scissor type gait) Telangiectasias of eyes and skin Cellular and humoral immunodeficiencies Predisposition to lymphoreticular cancers Effects cerebellar function Progressive neurologic deterioration
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April 27, 2021 49 Care of the Child with AT Gamma globulin replacement therapy if indicated Need a team of care providers (i.e. primary care, neurology, immunology, nutritionist, pulmonologist, developmentalist) Supportive care Use X-rays ONLY when absolutely necessary as exposure to x-rays causes cell death or chromosomal breakage
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April 27, 2021 50 Disorders of Phagocytes Chronic Granulomatous Disease Leukocyte Adhesion Deficiency Chédyak-Higashi Syndrome
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April 27, 2021 51 Chronic Granulomatous Disease(CGD) Phagocytes have normal function, EXCEPT they cannot make an oxidative burst So…phagocytes successfully defend against some organisms, but not those that require an oxidative burst to kill them; these are usually catalase-postive bacteria and fungi
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April 27, 2021 53 Frequent Pathogens Staph aureus ~ 30-56% of clinical isolates Other Gram positives e.g. Nocardia Gram negative ~ 30% e.g. E. coli, Serratia marcescens, Klebsiella, Enterobacter species, Burkholderia, Salmonellae, Pseudomonas Fungi: ~ 20% Aspergillus ~ 78% Candida species
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Diagnosis: Nitroblue Tetrazolium Test negative positive
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April 27, 2021 55 Clinical Presentation of CGD X linked or, more rarely, autosomal recessive) Recurrent bacterial infections of any organ system or tissue Pneumonias: (50% are fungal, frequently caused by Aspergillis) Other frequent infections include lymphadenitis, retropharyngeal and liver abscesses, osteomyelitis
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April 27, 2021 56 Primary Care of CGD Bacterial prophylaxis with trimethoprim/sulfamethoxazole Dose: 5-10 mg/kg/day divided BID Fungal prophylaxis with Itraconazole Dose: 2-5 mg/kg/dose BID Interferon  Dose: 50 μg/m2 sq 3x/week or 1.5 mcg/kg if < 0.5 m2 Routine primary care and immunization are critical Infections need to be treated for a long time and may require parenteral antibiotics
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Complement Deficiencies Activation of the Complement System: Classical Pathway Alternative Pathway Lectin Pathway April 27, 2021 57
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Problems for Complement Deficient Patients Higher susceptibility to bacterial infections, especially with encapsulated organisms N. meningitidis particularly problematic for those with deficiencies of C5,6,7,8, or 9 Higher propensity for autoimmune diseases, especially SLE or glomeronephritis April 27, 2021 58
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Primary Care across the Spectrum of Primary Immunodeficiencies April 27, 2021 59
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April 27, 2021 60 Role of the PNP in Pediatric Primary Immunodeficiency Routine primary care is critical, particularly in the assessment of growth and development Toddlers and pre-schoolers should be seen at least twice a year for well-child visits (on an alternate schedule with the immunologists so that they are seen every three months) School-age children and adolescents should be seen yearly (on an alternate schedule with the immunologists so that they are seen every six months) Insure immunization when appropriate
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Vaccines April 27, 2021 61
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Treatment of Infections April 27, 2021 62
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Use of Steroids April 27, 2021 63
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Diagnostics April 27, 2021 64
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Co-morbidities April 27, 2021 65
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Antibiotic Prophylaxis April 27, 2021 66
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Routine Medications April 27, 2021 67
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Environmental Issues April 27, 2021 68