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Flashcards in Primary Immunodeficiencies Deck (17)
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What are the most common forms?

Antibody Disorderes
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)
- Persistent
- Unusual organism
- Recurrent
- 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?

Staph Aureus
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

Hereditary Angioedema


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
Palatal defects
Immunodeficiency (Thymus hypoplasia)
Learning disabilities
Characteristic Facies
Developmental Disability


What is thymus aplasia likely to cause in 22q11 deletion syndrome?

Reccurent RTIs in infancy

Autoimmune Phenomena:
- Anaemia/thrombocytopenia- JIA
- Raynaud's
- Thyroid disease


How do we treat someone with 22q11 deletion syndrome?

Gotta transplant that thymus


Invasive fungal infections are a hallmark of PID. What type is likely with CD4, neutrophil or Phagocyte disorders?

CD4 defct --> Cryptococcus or pneumocystis

Neutrophil --> ASpergillus

Phagocyte --> Candia