Primary Immune Deficiencies Flashcards
What is the difference between a primary and secondary immune deficiency?
Primary = inherited at birth, generally caused by specific gene mutations
Secondary = acquired when immune system is compromised secondary to an extrinsic factor
Individuals with primary immune deficiency are at risk for what other things?
- Cancer - normally immune system has ways of killing cells that are proliferating abnormally but in primary immune deficiency this ability is almost if not completely absent
- Autoimmunity - if a cell is too reactive to self antigen, the immune system is responsible for getting rid of such cells. In a person with primary immune deficiency their ability to do this is lessened so they’re more likely to develop autoimmunity when such an event does happen.
Febrile illness is common in young children. However, many of the common early presentations of primary immune deficiency are also febrile illnesses (ear, pulmonary, sinus infections and diarrhea). How can you tell the difference between a child with a healthy immune system that just gets a lot of febrile illness and a child with primary immune deficiency?
Let’s say that you have a child that meets some of the criteria for suspecting primary immune deficiency. What do you do to screen this patient for primary immune deficiency?
If a patient as primary immune deficiency and is susceptible to recurrent bacterial infections and types of fungal infections, what parts of the immune system would you suspect are compromised?
Antibody production (B cells)
Complement
Phagocyte defects (neutrophils, macrophages)
If a patient has primary immune deficiency and is susceptible to recurrent viral, protozoan and fungal infections, what parts of the immune system would you suspect are compromised?
T cells
If a patient has primary immune deficiency and their lymphoid tissue shows absent or reduced follicles and germinal centers, what type of deficiency do they most likely have?
B-cell deficiency
- What is XLA?
- What is the frequency in live births (males)?
- What is the age at presentation?
- What is a characateristic physical exam finding?
- What types of organisms are these individuals most susceptible to?
Describe the pathogenesis of XLA.
What is the treatment for XLA?
- What is selective IgA deficiency?
- How common is it?
- What is the typical presentation?
- What causes this deficiency?
- What is common variable immunodeficiency?
- What causes this disorder?
- How does it present?
- What is the prevalence?
- How is it treated?
- Common, but has variable presentation, heterogenous group of disorders, reduced serum IgG in combination with low levels of IgA and/or IgM
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What is hyper IgM syndrome?
How common is it?
What causes it?
Individuals with hyper IgM syndrome are susceptible to what kinds of infections?
What is severe combined immune deficiency?
SCID is very rare, so why is it screened for at birth?
B/c treatment is most effective if the disorder can be identified prior to overwhelming infections set in
What is a typical physical finding in patients with SCID?
Absence of thymic shadow on CXR
- How do children with SCID typically present?
- What infections are most common in these children?
- What must you consider with regards to routine care and these patients?
What is the treatment for SCID?
What preventative measures can be taken while awaiting treatment?
Complement deficiency - C3
- What is the inheritance?
- What is the presentation?
- What organisms cause infections with this defect?
- What are they at risk for developing?
Complement deficiency - C1, C2, C4
- What is the inheritance pattern?
- What are they at risk for developing?
Complement deficiency - C5 - C9
- What is the inheritance pattern?
- What pathogens are they most susceptible to?
What is the treatment for individuals with complement deficiencies?
What is chronic granulomatous disease?
How common is it?
What is the mean age of dx?
What causes chronic granulomatous disease?
Mutations in NADPH oxidase complex in phagocytes leads to inability to generate respiratory burst (NO + ROS) needed to kill the ingested pathogen/material –> leads to formation of granulomas to wall off the macrophages that can’t digest their contents to try and keep the substances from causing further damage –> granulomas lead to tissue dysfunction.
What pathogens are individuals with CGD susceptible to?
What is the treatment?
What is hyper IgE syndrome? (i.e. Job syndrome)
