Flashcards in Primary Immunodeficiencies Deck (17)
What are the most common forms?
Then Phagocyte and T Cell Disorders
What would make you think of a PID?
If the patient (usually a kid) gets infections that are abnormally:
- Severe (needs hospital or IV abx)
- Unusual organism
- Run in the family
In general how are we gonna manage PIDs?
Prevent and treat infections
Genetic Counselling & prenatal diagnosis
Target the cause where possible:
- Immunoglobulin Substitution for B cell disorders
- Gene Therapy (e.g. for SCID genes)
- Stem Cell Transplant e.g. CGD
- Thymus Transplant for DiGeorge
What infections are likely in a phagocyte disorder?
Aspergillus in the lung, bone or brain
What condition occurs in neutrophil dysfunction
Chronic Granulomatous Disease
What conditions occur in Complement deficiencies?
Neisseria Meningitidis Infection
What is hereditary Angioedema?
A c1-inhibitor deficiency of autosomal dominant inheritance --> Inflammation & oedema
How does Hereditary Angioedema present?
Recurrent painless, non-putting, non-pruritic, non-erythematous swelling in subcutaneous tissues, intestines & Oropharynx
How do you treat Hereditary Angioedema?
Emergency management of the airway obstruction or abdo pain
C1-inhibitor infusion OR fresh frozen plasma
What are SCID genes?
Severe Combined Immunodeficiencies
A set of genetic mutations that cause fatal combined immunodeficiencies in the innate immune system
You need a stem cell transplant to survive
What kind of infections are you likely to get from a B cell deficiency?
Recurrent resp bacterial infections e.g. Strep Pneumoniae & H influenzae
What infections can you get from a T cell disorder?
Opportunistic Infections e.g. Pneumocystic Jirovecii or CMV
What's the most common T cell "syndrome" deficiency?
Digeorge Syndrome aka 22q11 deletion
How does 22q11 present?
Congenital Cardiac Abnormalities
Immunodeficiency (Thymus hypoplasia)
What is thymus aplasia likely to cause in 22q11 deletion syndrome?
Reccurent RTIs in infancy
- Anaemia/thrombocytopenia- JIA
- Thyroid disease
How do we treat someone with 22q11 deletion syndrome?
Gotta transplant that thymus