immunodeficiency

Question 1

what is primary immunodeficiency

Answer 1

• inherited
• caused by genetic mutations
• now over 500 described genes
• only 20 genes account for approx 90% of cases

Question 2

what is secondary immunodeficiency

Answer 2

• acquired
• caused by disease of therapeutics/biologics such as immunosupressant drugs, chemotherapy, steroids

Question 3

what are features of primary immunodeficiencies

Answer 3

• auto inflammation
• autoimmunity
  more susceptible to infection
• malignancy
• rare 1:10,000

Question 4

what are 4 examples of primary immunodeficiencies

Answer 4

• severe combine immunodeficiency (SCID)
• XLA
• combined immunodeficiency - wiskott- aldrich syndrome
• chronic granulomatous disease

Question 5

what is SKID, what mutations involved, what abnormalities are there in the immune cell, how long can you live, what are the treatments

Answer 5

• severe combined immunodeficiency
• mutations in multiple genes
• mutation in x linked gene which codes for gamma chain that makes up cytokine receptor
• mutation in autosomal genes which codes for proteins such as RAG1, RAG2, JAK2
• B CELL AND T CELL not produced
• only live till infancy, need treatment such as stem cell transplant, gene therapy
• life threatening opportunistic viral infections
• bone marrow trnasplant for treatment if skid used to have a survival rate of 22% in the 70s/80s now theres a 90% survival rate

Question 6

what is XLA, what part of the immune system is dysfunctional, what are the treatments, when do symptoms offset, signs and what are they at risk of developing

Answer 6

• x linked primary immunodeficiency
• due to dysfunctional b cells and a lack of antibody’s produced
• treatment include giving immunogloblin and prophylactic antibiotics
• can live a normal life- life expactancy if relevant treatment given
• symptoms onset 3-6 months after birth when the IgG antibodies derived from the mother start to decrease
• signs include recurrent infection and risk of developing bronchiectasis ( chronic lung condition- lungs widen)

Question 7

what is Wiskott aldrich syndrome, clinical signs, what part of the immune system in dysfunctional, how long can they live up

Answer 7

• combine primary immunodeficiency
• dysfunctional t and b cell
• death in young adult without stem cell transplant
• x linked
• clinical signs- eczema, petechia, pnuemonia, lymphoma , viral infections, bacteria infecrtions

Question 8

what is chronic granulomatous disease, who does it affect, how abundant is it, what are the defects, what part of the immune system does it ipact, what are the clinical signs and what is the onset

Answer 8

• dysfunctional neutrophil- associated with neutropenia
• primary immunodeficiency
• x linked and autosomal recessive
• 1:200000- 1:400,000
• defect in components of NADPH oxidase
• recurrent and severe bacterial and fungal infection
• inflammatory bowel disease
• onset in amjority at < 2 years

Question 9

how to diagnosis someone with immunodeficiency

Answer 9

• history
  -examination
  -labarotory testing
• always ask family history

Question 10

what is the risk factors of secondary immunodeficiency

Answer 10

• steroids
  -chemotherapy
  -immunosupressant drugs
• infections (HIV)
• malnutrition
• tumours
• other diseases such as diabetes
  -cytotoxic drugs- used to inhibit tumour growth
• loss of cellular components

Question 11

what are examples of oppurtunistic infections for these microorganisms
bacteria
virus
fungi
protozoa

Answer 11

• mycoobacteria tb
• cytomegalovirus
• pneumocytsis jirovecci
• toxoplasma gondii

Question 12

what is an example of a medication for HIV prevention, what does it prevent

Answer 12

• lenacapavir
  -viral capsid inhibitor
• prevents viral replication

Question 13

what are some of the diagnostic tests done to diagnose someone with immunodeficiency

Answer 13

• first line tests- full blood count, lymphocyte subtests
• second line defence- post vaccination specific antibody to standard vaccines
• third line defence- naiive and memory t cells