clinical- PID Flashcards
What are the main features of a primary immune deficency?
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
What other signs and symptoms are present in primary immune deficiency?
weight loss
failure to thrive
severe skin rash
mouth ulceration
chronic diarrhoea
cancer
family history of PID
lymphoproliferative disorders
what are the causes of PID?
- inherited
- Treatment via drugs
- Infection:
i. Bacteria
ii. mycobacteria (both Tb and atypical)
iii. fungi (candida, aspergillus)
what is the difference between Primary and secondary immune deficiency?
- secondary more common
- secondary more subtle
- secondary involves more than one component of immune system
what are the upper respiratory complications of PIDs?
- sinusitis
- Otitis media
- Laryngeal angioedema
what are the lower respiratory complications of PIDs?
- malignancies
- ILD
- Pneumonia
- bronchitis
- bronchiectasis
What is Primary antibody deficiency (PAD)?
consists of four main diseases:
- selective IgA deficiency
- Common variable immunodeficiency (CVID)
- Specific antibody deficiency (SAD)
- X linked agammaglobulinemia (XLA)
What are the main signs and symptoms of PAD?
Otitis media
sinusitits
What are the signs and symptoms of laryngeal angioedema?
localised swelling this is generally asymmetric due to increased vascular permeability
what can angioedema cause?
Obstruction and asphyrxiation
angioedema is an allergic reaction true or false?
false
what is the congenital form of angioedema
ii. what is its cause?
hereditary angioedema
c1 esterare inhibitor defects
what is neutropenia?
abnormally low concentration of neutrophils in the blood
major signs of PIDs in children
what is Kostmann syndrome?
rare autosomal recessive disorder causing the specific failure of neutrophil maturation- leads to severe chronic neutropaenia
what is Kostmann syndrome most common form?
SCN1- autosomal DOMINANT
what are the clinical features of Kostmann syndrome?
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
How do you diagnose Kostmann syndrome
genetic testing: positive for autosomal recessive
How do you treat Kostmann syndrome ( SCN)
G-CSF (granulocyte colony-stimulating factor) increases neutrophil count
What is Leukocyte adhesion deficiency?
very rare autosomal recessive PID
caused by genetic defect in CD18 intergrin gene
What does Leukocyte adhesion defiency cause?
impaired migration causes
blocked migration from blood to site of infection
reduced uptake and degradation of opsonised bacteria
How do you manage LAD?
Hematopoietic stem cell transplant
prophylactic antibiotics
What is chronic granulomatous disease?
Defiency of the intracellular killing mechanism of phagocytes
causes inability to clear organisms and an excess inflammation
What are the clinical features of CGD?
Recurring deep bacterial infections (staph, aspergillus, pseudomonas cepacia)
recurrent fungal infections
failure to thrive
lymphadenopathy and hepatosplenomegaly
granuloma formation
What are the main ways to manage a PID?
- Immunoglobulin replacement therapy
- aggressive management of infection:oral/IV antibiotics and anti fungals
- surgical draining of abscesses
- definitive therapy ( haematopoietc stem cell transplantation and gene therapy)
