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Immunology > 09.17.18 Primary Immunodeficiency > Flashcards

09.17.18 Primary Immunodeficiency Flashcards

1
Q

Genetic mutation that may occur at any phase of the immune response (maternal IgG can mask this)

A

Primary Immunodeficiencies

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2
Q

What is the majority of primary immune deficiencies?

A

Humoral defects

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3
Q

What are signs/symptoms of humoral/antibody defects?

A
  • Pyogenic/encapsulated bacteria infections
  • Recurrent sinus/respiratory infection
  • Frequent viral infections
  • Chronic diarrhea
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4
Q
  • Caused by defects in B cell development
  • Defective germinal center
  • underdeveloped tonsils/lymphoid tissues
A

Agammaglobulinemias

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5
Q
  • Defect in B cell tyrosine kinase (BTK)
  • Majority of agammaglobulinemias
  • Aka Bruton’s agammaglobulinemia
A

X-linked agammaglobulinemia (XLA)

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6
Q

What are the lab values to pay attention to with XLA?

A
  • 50% with positive family history
  • IgG <100 mg/dl
  • B cells <2% of lymphocytes
  • Normal T cell number and function
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7
Q
  • Defects in B cell isotype switching

- Normal numbers of B cells but elevated levels of IgM and low levels of IgG, IgE, and IgA

A

Hyper-IgM Syndromes

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8
Q

Most common primary immunodeficiency

A

IgA deficiency

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9
Q

Second most frequent PID

A

Common Variable immunodeficiency (CVID)

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10
Q
  • IgA <5-7 mg/dl

- asymptopmatic

A

IgA Deficiency

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11
Q

Characterized by:

  • recurrent infections
  • reduced IgG, IgA and/or IgM
  • impaired/absent antibody response to previous infection/vaccine
  • Cause unknown
A

CVID

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12
Q

Characterized by:

  • recurrent sinopulmonary infections
  • Normal IgG, igA, IgM
  • Normal B cell and normal T cell number and function
  • Impaired vaccine response (polysaccharide)
  • Impaired antibody response to natural infection with encapsulated bacteria
A

Specific Antibody Deficiency

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13
Q

What are the encapsulated organisms?

A

SAY SOME KILLERS HAVE PRETTY NICE CAPSULES

Streptococcus pneumoniae/pyogenes

Staph aureus

Klebsiella

Haemophilius Influenzae

Pseudomonas aeruginosa

Neisseria meningitidis

Cryptococcus neoformans

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14
Q

Characterized by:

  • Recurrent sinopulmonary infections
  • Low IgG but normal specific antibodies
  • Normal lymphocyte number and function
  • Possible delay in maturation for T helper cells
A

Transient Hypogammaglobulinemia of Infancy

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15
Q

How would you evaluate the humoral immune system?

A
  1. CBC with diff
  2. Age adjusted quantitative Ig
  3. Specific Antibody Titers
  4. Complement pathway functional assays
  5. Lymphocyte markers
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16
Q

What kind of infections are common with T cell dysfunction

A

Infections with intracellular microorganisms

17
Q
  • Problem impacting B, T an NK cells
  • Most common is X linked
  • RAG deficiency
A

Severe Combined Immunodeficiency (SCID)

18
Q
  • Leaky SCID
  • Low T cell
  • Exudative eczema
  • Large spleen
  • Elevated IgE and Eosinophilia
A

Omenn Syndrome

19
Q
  • Defect in embryogenesis
  • Deletion of chromosome 22q11.2
  • Hypocalcemia
  • Low T cell
  • Congenital heart disease
  • Dysmorphic face
  • Diagnosed by chest x ray (absence of thymus)
  • Can be partial or complete
A

DiGeorge Syndrome

20
Q
  • Thrombocytopenia with small platelets (look for min. platelet volume)
  • Eczema
  • WASP involved with actin polymerization- lymphocyte function
A

Wiskott Aldrich Syndrome

21
Q

What types of diseases are associated with defects in innate immunity?

A
  1. Chronic Granulomatous Disease
  2. Leukocyte Adhesion Deficiency
  3. Hyper IgE Syndrome
  4. Complement Disorders
22
Q
  • Recurrent bacterial infection with catalase positive organisms (Staph)
  • Granulomas because phagocytes can ingest but do not kill because they can’t form oxygen radicals
A

Chronic Granulomatous Disease

23
Q

How can you diagnose CGD?

A
  1. Flow cytometry
  2. NBT
  3. Superoxide radical formation
24
Q
  • Absent CD18 on cell surface
  • Neutrophil can’t migrate to inflammatory response
  • No pus formation
A

Leukocyte Adhesion Deficiency

25
Q
  • Recurrent staph abscesses, severe eczema
  • retained primary teeth
  • recurrent candida
A

The HyperIgE syndrome (Job Syndrome because Job had recurrent boils)

26
Q

What diagnostic tests would you use for defects in innate immunity?

A
  1. CBC with diff
  2. Neutrophil function
  3. Complement assay
27
Q

What diseases are diagnosed

0-3 months

3-6 mo

6-18 mo

18 mo-adulthood

A

0-3: Complement defect, DiGeorge syndrome, phagocytic cell defect

3-6: SCID

6-18: XLA, Transient hypogam

18-adult: CVID, complement

28
Q

How would you treat humoral/antibody deficiency?

A
  1. Avoid exposure to infection
  2. Antibiotics/prophylactic antibiotics
  3. IV or SQ IgG
29
Q

How would use treat combined immunodeficiency

A 
Enzyme replacement, gene therapy, 
IVIG, 
avoid live viral vaccine
Irradiate blood products
Prophylactic antibodies

Immunology (9 decks)

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