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FM3_ EB > Primary Immunodeficiencies > Flashcards

Primary Immunodeficiencies Flashcards

1
Q

List warning signs of primary immunodeficiency

A 
4+ ear infections in a year
2+ sinus infections in a year
2 months of antibiotics without effect
2+ pneumonias per year
Failure to thrive
Recurrent deep abscesses
Persistent thrush or fungal infection
Need for IV antibiotics to clear infections
Two or more deep infections incl septicemia
Family history of PI
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2
Q

List signs of B cell deficiency

A

Recurrent sinopulmonary infections or sepsis
Infections with encapsulated organisms
Chronic enteroviral meningoencephalitis

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3
Q

What lab tests are used to work up B cell deficiencies

A

Ig levels
Specific antibody titers
Flow cytometry

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4
Q

What disease states present with B cell deficiencies?

A

X linked agammaglobulinemia
Common variable immunodeficiency
Selective IgA deficiency

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5
Q

List signs of T cell deficiency

A

Opportunistic infections
Recurrent and severe common infections
Failure to thrive

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6
Q

List lab tests used to work up T cell deficiencies

A

CBC with differential
Flow cytometry
T cell functional study
Ig levels

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7
Q

List disease states associated with T cell deficiency

A

DiGeorge syndrome
Wiskott Aldrich syndrome
SCID (B and T cell)
CID

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8
Q

List signs of phagocyte deficiency

A

Soft tissue abscess or lymphadenitis
Infection with catalase + organisms (staph, serratia, aspergillus)
Poor wound healing

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9
Q

List lab test used to work up phagocyte deficiency

A

CBC with differential
Neutorphil oxidative burst assay
Flow cytometry for adhesion molecules

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10
Q

List disease states associated with phagocyte deficiency

A

Chronic granulomatous disease

Leukocyte adhesion defecit

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11
Q

List signs of complement deficiency

A

Recurrent disseminated Neisseria infection
Autoimmune disease
Bacterial sepsis

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12
Q

List lab tests used to work up complement deficiency

A

CH50 measures entire complement cascade

AH50

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13
Q

List disease states associated with complement deficiency

A

Classical complement deficiency

Alternative complement defect

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14
Q

List presenting signs of innate immune defects

A

Septicemia

Poor inflammatory response

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15
Q

List lab tests used to work up innate immune defects

A

TLR signaling

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16
Q

List disease states associated with innate immune defects

A

IRAK 4 mutation
NEMO mutation
MyD88 mutation

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17
Q

The majority of primary immune deficiencies are due to deficiency in ______

A

antibodies

#2: combined cellular and antibody
#3: phagocytic
#4: cellular
#5: complement
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18
Q

Describe the rationale for SCID screening on the newborn screening panel

A
  • many genotypes, many mutations
  • diagnosis often not apparent on exam
  • treatable but life threatening
  • early treatment associated with better outcomes
  • cost effective
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19
Q

T cell recombination in the thymus creates ______ as a byproduct. They are stable and can be detected by PCR in newly formed T cells but are diluted out as T cells undergo successive division

A

TRECs- TCRa rearrangement excision circles

20
Q

Newborn screening for SCID involves quantitative PCR to determine the number of ______ present and is confirmed with ______

A

TRECs

Flow cytometry

21
Q

What findings will be present on flow cytometry of a child with SCID?

A

Low absolute lymphocytes
Low CD3
Low CD19
Normal NK cells

22
Q

How is SCID treated?

A

immune reconstitution: bone marrow transplant, gene therapy, PEG-ADA, thymic transplant

23
Q

What is the classic triad of DiGeorge syndrome?

A

Conotruncal cardiac anomaly
Hypoplastic thymus
Hypocalcemia

24
Q

Describe the pathophysiology of DiGeorge syndrome

A

Deletions in chromosomes 22 (or 10)

teratogens that presumably inhibit neural crest cell migration at critical times during development result in chromosomal defects. Examples: accutane, EtOH, maternal diabetes.

25
Q

How can DiGeorge syndrome be diagnosed?

A

FISH

26
Q

How can DiGeorge syndrome be treated?

A

Immunologic monitoring
Guidance re: live vaccines
Thymic transplantation if complete syndrome

27
Q

_______ is the most common humoral immune deficiency but is poorly understood at the molecular level.

A

Common variable immunodeficiency

28
Q

What is the main defect in CVID?

A

Primarily a defect in B cell differentiation or function

Also often involves autoimmunity

29
Q

What age is most commonly affected by CVID?

A

Bimodal age of onset- first and third decades of life

30
Q

Lis three diagnostic criteria for CVID

A

Male or female with marked decrease in IgG, IgM, IgA PLUS
1. Onset greater than 2 years of age
2 .Absence of isohemagglutinins or poor response to vaccines
3. Defined causes of hypogammaglobulinemia have been excluded

31
Q

There is increased incidence of _____, _____, and ___ in CVID

A

lymphoid malignancy, autoimmune disease, atopy

32
Q

List some autoimmune manifestations of CVID

A 
Hematologic: autoimmune cytopenias
GI:  pernicious anemia,celiac, IBD
Rheumatologic: SLE, RA, JRA, vasculitis
Endocrine:  Hashimoto’s, Type 1 DM
Dermatologic: vitiligo, alopecia 
Neurologic: Guillain-Barre
33
Q

What treatments are used for CVID?

A

Gammaglobuline therapy
Aggressive antibiotics for bacterial infections
Immunosuppression ofr autoimmunity
BMT????

34
Q

Wiskott Aldrich Syndrome shows ________ inheritance and typically presents with recurrent infections, thrombocytopenia, and eczema

A

X linked

35
Q

What is the normal role of the Wiskott Aldrich protein

A

actin cytoskeleton modulation

36
Q

Describe lab findings in WAS

A

Low platelets with low volume
Lymphopenia
Increased IgA, IgE and normal- low IgM and IgG

37
Q

List treatments of WAS

A
  • possible prophylactic antibiotics against PCP
  • acyclovir to prevent HSV
  • gammaglobulin replacement therapy
  • curative options: HSCT, gene therapy trials underway
38
Q

_________ is a primary immune deficiency characterized by severe immune dysregulation after EBV infection.

A

X linked lymphoproliferative disorder, XLP

39
Q

Describe the clinical phenotype of XLP

A

fatal mononucleosis, hemophagocytic lymphohistiocytosis, lymphoma, aplastic anemia

40
Q

What is the genetic defect in XLP?

A

Genetic mutation in SH2D1A gene which encodes intracellular signaling protein, SLAM associated protein. SAP is necessary for NK cell development, CD8 response to EBV

41
Q

How is XLP treated?

A

Bone marrow transplant

B cell depletion early in EBV infection course

42
Q

Chronic granulomatous disease shows _____ inheritance and involves disruption of NADPH oxidase complex formation

A

X linked

43
Q

What are the clinical manifestations of chronic granulomatous disease?

A

Recurrent abscess, pneumonia, osteomyelitis, gingivitis, poor wound healing, colitis, GI obstruction.
Susceptibility to catalase positive organisms

44
Q

How is chronic granulomatous disease treated

A 
Antibacterial and antifungal prophylaxis
Interferon gamma prophylaxis
Steroid therapy for dysregulated inflammatory responses 
Bone marrow transplant
Gene therapy
45
Q

Summarize the genetics of the diseases presented in lecture

A

X linked: WAS, XLP, CGD
SDID: various, can be X linked, AR, mitochondrial
DiGeorge: chromosomal deletion
CVID:

FM3_ EB (25 decks)

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