THINK BEYOND THE BUGS
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Transcript of THINK BEYOND THE BUGS
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Immune Deficiency Syndromes in the Appalachia
Presented by: Demetrio R. Macariola, M.D. FAAP
THINK BEYOND THE BUGS
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Disclosure Statement of Financial Interest
I, Demetrio R. Macariola , DO NOT have a financial
interest/arrangement or affiliation with one or more organizations that
could be perceived as a real or apparent conflict of interest in the
context of the subject of this presentation
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Disclosure Statement of Unapproved/Investigative Use
I, Demetrio Macariola, DO/DO NOT anticipate discussing the
unapproved/investigative use of a commercial product/device during
this activity or presentation.
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1. Describe the different immune deficiency syndromes in our community in outpatient
setting.2. Describe the pathogens associated with
each deficiency syndrome.
Learning Objectives
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Immune Deficiency Syndromes in the Appalachia over 4 yearsCVID: 20Agammaglobulinemia: 2Transient Hypogammaglobulinemia: 2Chronic Granulomatous Disease: 4Hyper IgE Syndrome: 2HIV: 1TOTAL: 35
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“MY CHILD IS ALWAYS SICK”4 year old boy who developed pneumococcal pneumonia and bacteremia at 8 months later on developing E. coli UTI at 10 months and non typeable H. influenzae bacteremia at 2 years of age. Had been having recurrent pneumonia and sinusitis that mom thinks he cannot get over it.”. PE unremarkable.
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LaboratoriesInitial immunoglobulin levels: IgM: low, IgG: normal, IgE: normal
After 2 weeks: immunoglobulin levels: IgM normal, IgG: low, IgE: normal
Diptheria and Tetanus titers: non protective
CD 19 lymphocyte count: normal
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Differential Diagnosis?1. Common Variable Immunoglobulin Deficiency2. Transient Hypogammaglobulinemia 3. Agammaglobulinemia4. Hyper IgE Syndrome
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Common Variable Immunoglobulin DeficiencyInfections usually occurs after 6 monthsCan affect both gendersNon protective diphteria and tetanus titersTreatment: Immunoglobulins
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“Something not right is going on”2 month old boy previously healthy developed right leg weakness after getting oral polio vaccine. His dad is concern that “ something not right is
going on”. PE: right lower extremity weakness.
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LaboratoriesInitial : IgM, IgG, IgA non detectableRepeat: immunoglobulin levels non detectableCD 19 lymphocyte count : zero
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Differential Diagnosis1. Agammaglobulinemia2. Transient hypogammaglobulinemia3. Hyper IgE syndrome4. Chronic granulomatous disease
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AgammaglobulinemiaMay be autosomal recessive or X-linkedAll immunoglobulins and CD 19
lymphocytes are non detectable.
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“We belong to a family with immunoglobulin deficiencies”9 month old girl who had 2 episodes of otitis media within 3 months. No other infections. PE in unremarkable. Two family members with CVID.
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LaboratoriesIgA normal, low IgM IgG
Diphteria and tetanus titers: normal
CD 19 lymphocytes: normal
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Differential Diagnosis1. Agammaglobulinemia2. Transient hypogammaglobulinemia3. Hyper IgE syndrome4. Chronic granulomatous disease
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Transient Hypogammaglobulinemia of Infancy (THI)Low immunoglobulin levels that resolves between
2-3 years old.Normal diphteria and tetanus titersNormal CD 19 lymphocyte counts
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“Rashes, asthma & infections not going away”15-year-male presented with recurrent pneumonia and
sinusitis.Pneumatocele was observed in the chest Xray. Had several episodes of sinusitis and pneumonia in the past. Had been having moderate to severe asthma. PE findings pertinent
for eczema and crackles.
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LaboratoriesIgG, IgM levels: normal
IgE level: 3000 mg/dl
Blood culture: S. aureus
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Differential Diagnosis1. Agammaglobulinemia2. Transient hypogammaglobulinemia3. Hyper IgE syndrome4. Chronic granulomatous disease
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Hyper IgE SyndromeAlso known as Job syndromeEczema, asthma, recurrent sinusitis, lymphadenitisMarkedly elevated IgE levelElevated eosinophils
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“Unusual germ from a facial wound”3 year girl who developed cervical adenitis that didnot improved with amoxicillin-clavulanate. The
cervicaladenitis recurred and was treated with
trimethoprim-sulfamethoxazole with improvement.
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Laboratories:Wound culture: Burkholderia cepaciaImmunoglobulin levels: normalNeutrophil oxidative burst test: positive
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Differential Diagnosis1. Agammaglobulinemia2. Transient hypogammaglobulinemia3. Hyper IgE syndrome4. Chronic granulomatous disease
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Chronic Granulomatous DiseaseCan be autosomal recessive or x-linked
Rx: Trimethoprim-sulfamethoxazole, itraconazole
Gamma interferon
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“My niece always have these skin bumps”11 year old girl who lives with her aunt had been having repeated skin infections for 2 years. Had been on multiple antibiotics. Pertinent PE findings
generalized impetigo and oral thrush.
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Laboratories:Immunoglobulin levels: Elevated IgM, IgE, IgA and
IgGCD4 count: lowCBC: lymphopenia
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Differential Diagnosis1. CVID2. Hyper IgE syndrome3. Hyper IgM syndrome4. HIV
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IMMUNOGLOBULIN DEFICIENCY SYNDROMES IN OUR AREA
1. Hypogammaglobulinemia- X-linked, autosomal recessive2. Common Variable Immunoglobulin Deficiency3. Transient Hypogammaglobulinemia of Infancy4. Hyper IgE Syndrome/Job syndrome
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Pathogens Commonly Affecting Patients with CVID and Agammaglobulinemia
1.Encapsulated bacteria: Pneumococcus, E.coli, H. influenzae, Salmonella, Mycoplasma
2. Viruses: enteroviruses, hepatitis C, CMV, VZV
3. Parasite: Giardia
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Pathogens Commonly Affecting Patients with CGD
Bacteria: S. aureus, Serratia marcescens, B. cepacia, Nocardia.
Fungi: Aspergillus
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Pathogens Commonly Affecting Patients with Hyper IgE
S. aureus
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Chest xrayLobar Pneumonia Pneumatocele
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Pathogens & Associated ConditionsE. coli sepsis: GalactosemiaRecurrent Neisseria infection: Terminal
Complement DeficiencyDeep Candida Infection: Myeloperoxidase
DeficiencyDisseminated Maycobacterial Infection: T
lymphocyte DeficiencyP. jerovecii infection: T lymphocyte deficiencyEncapsulated bacterial infection: Splenic Dysfuntion
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10 warning signs of Immune Deficiency Eight or more new ear infections within one year.
Two or more serious sinus infections within 1 year.
Two or more months on antibiotics with little effect.
Two or more pneumonias within 1 year.
Failure of an infant to gain weight or grow normally.
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10 warning signs of Immune Deficiency Recurrent, deep skin or organ abscesses.
Persistent thrush in mouth or elsewhere on skin, after 1 year.
Need for intravenous antibiotics to clear infections.
Two or more deep-seated infections such as sepsis, meningitis or cellulitis.
A family history of primary immune deficiency.
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Review QuestionA 4-year-old boy was diagnosed to have chronicgranulomatous disease which of the following may be used as prophylactic antibiotic treatment?A. ampicillinB. cephalexinC. trimethoprim-sulfamethoxazoleD. ceftriaxoneE. ertapenem
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Review QuestionOn a 6-year-old boy with recurrent meningococcalinfection which of the following immune deficiency syndrome will you suspect?A. common variable immunoglobulin deficiencyB. complement deficiencyC. galactosemiaD. Job syndromeE. Bruton’s agammaglobulinemia
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References:1. 2012 4th edition Principles and Practice of
Pediatric Infectious Diseases- Long, Pickering & Probe
2. 2012 edition AAP Red Book- Pickering3. 2009 edition Principles and Practice of Infectious
Diseases4. Immune Deficiency Foundation Website-
http://primaryimmune.org/
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Special Thanks1. To Ms. Danielle Crumly- ID clinic nurse2. Colleagues3. Residents and medical students who had
rotated with pediatric ID.4. Nurses at Niswonger Children Hospital5. Nurses at ETSU Infusion Center