[W10] Immunodeficiencies Flashcards
(16 cards)
What is immunodeficiency?
The inability of the immune system to mount effective responses.
What are the two main types of immunodeficiency?
Primary (congenital) and secondary (acquired).
What does SCID stand for?
Severe Combined Immunodeficiency.
What is the cause of X-linked SCID?
Mutation in IL-2Rγ, affecting cytokine signalling.
What does RAG1/2 deficiency affect?
Prevents formation of BCRs and TCRs.
What is DiGeorge syndrome caused by?
Thymic aplasia due to deletion in chromosome 22q11.
What causes X-linked agammaglobulinaemia?
Mutation in BTK, halting B cell development.
What is Hyper IgM syndrome?
Defective CD40L, no class switching, high IgM.
What is a long-term treatment for Hyper IgM syndrome?
Bone marrow transplant.
What defect causes Chronic Granulomatous Disease?
NADPH oxidase mutation → no oxidative burst.
What infection risk is associated with C5–C9 deficiency?
Recurrent Neisseria meningitis.
What is the cause of hereditary angioedema?
Deficiency of C1 inhibitor.
Name 3 causes of acquired immunodeficiency.
- HIV
- Chemotherapy
- Malnutrition
What cells does HIV infect?
- CD4⁺ T cells
- Dendritic cells
- Monocytes
What co-receptors does HIV use for entry?
CCR5 or CXCR4.
What defines progression to AIDS?
Severe CD4⁺ T cell loss and opportunistic infections.
