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Respiratory Embryology, Microbiology, and Histology > Primary Immunodeficiency 2 (IMMUNOLOGY) > Flashcards

Primary Immunodeficiency 2 (IMMUNOLOGY) Flashcards

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1
Q

What is reticular dysgenesis?

A

Failure of haematopoietic stem cells in the thymus to produce neutrophils/lymphocytes/macrophages/platelets

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2
Q

Reticular dysgenesis is fatal unless…

A

Stem cell transplant

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3
Q

What is severe combined immunodeficiency (SCID)?

A

Failure of haemotopoietic stem cells in the thymus to produce lymphocytes

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4
Q

How do patients with SCID present?

A 
Unwell by 3 months 
Persistent diarrhoea 
Failure to thrive
All types of infection (common/unusual/opportunistic)
Vaccine-associated diseases 
Graft vs. Host Disease
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5
Q

Why do neonates with SCID only become unwell by 3 months?

A

Maternal IgG protects the SCID neonate in the first 3 months

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6
Q

What is the commonest form of SCID?

A

X-linked

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7
Q

Which mutation causes X-linked SCID?

A

Mutation of IL-2 receptor component

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8
Q

What is the clinical phenotype of X-linked SCID?

A

Very low or absent T cells
Normal or increased B cells
Poorly developed lymphoid tissue & thymus

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9
Q

How can X-linked SCID be treated prophylactically?

A

Avoid infection through prophylactic antibiotics and no vaccines + aggressive treatment of existing infections + antibody replacement by iv immunoglobulin

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10
Q

How can X-linked SCID be treated definitively?

A

Stem cell transplant

Gene therapy - stem cells treated ex vivo to express missing component

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11
Q

What is DiGeorge syndrome?

A

Genetic condition caused by a deletion at 22q11

Developmental defect of 4rd and 4th pharyngeal pouch

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12
Q

What are the clinical features of DiGeorge syndrome?

A 
Failure of thyme development - T cell immunodeficiency
Congenital heart defects
Cleft palate
Hypocalcaemia second to hypothyroidism
Developmental delay
Psychiatric disorders 
Lowest ears
Abnormally folded
High forehead
Small mouth & jaw
Oesophageal atresia
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13
Q

How can DiGeorge syndrome be detected through lab investigations?

A

Low or absent T cells
Normal or increased B cells
Normal NK cell numbers

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14
Q

How can DiGeorge syndrome be managed?

A 
Correct metabolic & cardiac abnormalities 
Prophylactic antibiotics
aggressive treatment of infection
Possibly immunoglobulin replacement 
T cell function improves with age
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15
Q

What are the clinical features of T cell deficiencies?

A

Recurrent + opportunistic infections
Malignancies at young age
Autoimmune disease

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16
Q

What are 1st line investigations for T cell deficiencies?

A

Total white cell count & differential
Serum immunoglobulins & protein electrophoresis
Quantitation of lymphocyte subpopulation

17
Q

What are 2nd line investigations for T cell deficiencies?

A

Functional tests of T-cell activation & proliferation
Additional tests of lymphocyte lineage
HIV Tests

18
Q

How do antibody deficiencies present?

A

Recurrent bacterial infections

Antibody-mediated autoimmune disease

19
Q

What is Bruton’s X-linked hypogammaglobulinaemia?

A

Failure to produce mature B cells resulting in no circulating B cells / no plasma cells / no circulatory antibodies after 6 months

20
Q

How do patients with selective IgA deficiency present?

A

2/3 asymptomatic

1/3 recurrent RTIs

21
Q

What is common variable immune deficiency (CVID)?

A

Heterogenous group of disorders causing low IgA, IgG and IgE / recurrent bacterial infections / often associated with autoimmune disease

22
Q

What are the clinical features of CVID?

A 
recurrent bacterial infections 
Bronchiectasis 
Persistent sinusitis
Recurrent GI infection
Auto-immune & granulamotous disease
23
Q

What are 1st line investigations of B cell deficiencies?

A

Total white cell count & differential
Serum immunoglobulins
Serum & urine protein electrophoresis

24
Q

What are 2nd line investigations of B cell deficiencies?

A

Quantitation of B and T lymphocytes

Specific antibody responses to known pathogens

Respiratory Embryology, Microbiology, and Histology (5 decks)

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