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My Respiratory > clinical- PID > Flashcards

clinical- PID Flashcards

1
Q

What are the main features of a primary immune deficency?

A

SPUR

Serious infection- unresponsive to antibiotics

Persistent infections- early structural damage/chronic infections

Unusual infections- unusual organism/site

Recurrent infections- two/one major infections which are recurrent in one year

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2
Q

What other signs and symptoms are present in primary immune deficiency?

A

weight loss

failure to thrive

severe skin rash

mouth ulceration

chronic diarrhoea

cancer

family history of PID

lymphoproliferative disorders

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3
Q

what are the causes of PID?

A
  1. inherited
  2. Treatment via drugs
  3. Infection:
    i. Bacteria
    ii. mycobacteria (both Tb and atypical)
    iii. fungi (candida, aspergillus)
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4
Q

what is the difference between Primary and secondary immune deficiency?

A
  1. secondary more common
  2. secondary more subtle
  3. secondary involves more than one component of immune system
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5
Q

what are the upper respiratory complications of PIDs?

A
  1. sinusitis
  2. Otitis media
  3. Laryngeal angioedema
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6
Q

what are the lower respiratory complications of PIDs?

A
  1. malignancies
  2. ILD
  3. Pneumonia
  4. bronchitis
  5. bronchiectasis
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7
Q

What is Primary antibody deficiency (PAD)?

A

consists of four main diseases:

  1. selective IgA deficiency
  2. Common variable immunodeficiency (CVID)
  3. Specific antibody deficiency (SAD)
  4. X linked agammaglobulinemia (XLA)
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8
Q

What are the main signs and symptoms of PAD?

A

Otitis media

sinusitits

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9
Q

What are the signs and symptoms of laryngeal angioedema?

A

localised swelling this is generally asymmetric due to increased vascular permeability

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10
Q

what can angioedema cause?

A

Obstruction and asphyrxiation

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11
Q

angioedema is an allergic reaction true or false?

A

false

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12
Q

what is the congenital form of angioedema

ii. what is its cause?

A

hereditary angioedema

c1 esterare inhibitor defects

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13
Q

what is neutropenia?

A

abnormally low concentration of neutrophils in the blood

major signs of PIDs in children

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14
Q

what is Kostmann syndrome?

A

rare autosomal recessive disorder causing the specific failure of neutrophil maturation- leads to severe chronic neutropaenia

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15
Q

what is Kostmann syndrome most common form?

A

SCN1- autosomal DOMINANT

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16
Q

what are the clinical features of Kostmann syndrome?

A

severe chronic neutropenia

accumulation of precursor cells in the bone marrow

recurrent bacterial/fungal infection (no pus)

within 2 weeks of birth

weight loss

oral ulcers

17
Q

How do you diagnose Kostmann syndrome

A

genetic testing: positive for autosomal recessive

18
Q

How do you treat Kostmann syndrome ( SCN)

A

G-CSF (granulocyte colony-stimulating factor) increases neutrophil count

19
Q

What is Leukocyte adhesion deficiency?

A

very rare autosomal recessive PID

caused by genetic defect in CD18 intergrin gene

20
Q

What does Leukocyte adhesion defiency cause?

A

impaired migration causes

blocked migration from blood to site of infection

reduced uptake and degradation of opsonised bacteria

21
Q

How do you manage LAD?

A

Hematopoietic stem cell transplant

prophylactic antibiotics

22
Q

What is chronic granulomatous disease?

A

Defiency of the intracellular killing mechanism of phagocytes

causes inability to clear organisms and an excess inflammation

23
Q

What are the clinical features of CGD?

A

Recurring deep bacterial infections (staph, aspergillus, pseudomonas cepacia)

recurrent fungal infections

failure to thrive

lymphadenopathy and hepatosplenomegaly

granuloma formation

24
Q

What are the main ways to manage a PID?

A
  1. Immunoglobulin replacement therapy
  2. aggressive management of infection:oral/IV antibiotics and anti fungals
  3. surgical draining of abscesses
  4. definitive therapy ( haematopoietc stem cell transplantation and gene therapy)
25
Q

what are the main PIDs associated with respiratory complications in children?

A
  1. transient hypogammaglobulinaemia of infancy- should be fine after supportive therapy
  2. X-linke agammaglobulinemia
  3. severe combined immunodeficiencies (SCID)
26
Q

what are the classical features of SCID?

A
  1. unwell by 3 months of age
  2. persistent diarrhoea
  3. failure to thrive
  4. multiple recurring infections (all types) - can have vaccine associated diseases
  5. unusual skin disease ( graft versus host disease e.g. when infants bone marrow is colonised by maternal lymphocytes)
  6. family history of early infant death
27
Q

What are the main causes of SCID?

A
  1. pathways ( deficiency of cytokine receptors or deficiency of signalling molecules)
  2. presence of different lymphocyte subsets (T,B,NK) depend on exact mutation
28
Q

What is X-linked SCID?

A

most common form of SCID

mutation of a component of the IL-2 receptor- causes failure of T cell and NK development. Leads to production of immature B cells

29
Q

what are the clinical features of X-linked SCID?

A
  1. very low or absent T cell count
  2. Normal or increased B cell count
  3. poorly developed lymphoid tissue and thymus
30
Q

How do you manage SCID?

A
  1. prophylactic treatment

avoid infections

give prophylactic antibiotics

prophylactic antifungals

no live attenuated vaccines

antibody replacement

  1. definitive treatment

stem cell transplant from HLA identical sibling if possible

  1. Gene therapy

if lymphoid cells dysfunctional stem cells can be treated ex vivo to express missing component

31
Q

What occurs in x-linked hypogammaglobulinaemia?

A

Mutation leading to deficiency in Bruton tyrosine kinase gene which is essential for B cell development

this causes

  1. No circulating B cells
  2. no plasma cells
  3. no circulating antibody after first 6 months

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