Immunology Flashcards
How is Bare Lymphocyte Syndrome classified?
Type 1: MHC I absent –> decreased CD8
Type 2: MHC II absent –> decreased CD4
Where exactly does DiGeorge Syndrome affect on a Chromosome?
Chromosome 22, region 1, band 1, sub-band 2.
aka 22q11.2
What are the signs/symptoms of DiGeorge’s syndrome?
CATCH 22
Cardiac abnormality (e.g. tetralogy of Fallot) Abnormal facies Thymic aplasia Cleft palate Hypocalcaemia/Hypoparathyroidism
22 chromosome
What does Bruton’s Agammaglobulinaemia result in at a cellular level?
Tyrosine Kinase defect therefore failed production of mature B cells.
Common treatment of Bruton’s Agammaglobulinaemia?
IV infusion of human immunoglobulin for life.
Common variable immune deficiency is characterised by what in the blood and clinically?
Low antibodies (IgG, E and A) Recurrent infections
What does Selective IgA deficiency result in clinically?
Recurrent gastro, respiratory and urogenital infections.
How many types of Hyper-IgM syndrome are there?
5
What is the most common type of Hyper-IgM syndrome and what causes it?
Type 1
X-linked mutation of the CD40 ligand
What happens to B cells in Hyper-IgM syndrome?
B cells cannot class switch therefore can only make IgM
What is the most common treatment for Severe Combined Immune Deficiency?
Bone Marrow transplant
What, in broad terms, is Severe Combined Immune Deficiency?
Both arms of adaptive immune system are impaired due to a defect in several different potential genes.
What does Kostmann Syndrome produce at a cellular level?
Neutropenia
How is Kostmann Syndrome inherited?
Some Autosomal recessive
Most common form is Autosomal Dominant
What therapy is available for Kostmann Syndrome?
Regular exogenous granulocyte colony-stimulating factor
What is the inherited molecular defect in Leukocyte adhesion Deiciency Type 1?
Beta-2 integrin subunit (aka CD18) deficiency
What test can you perform to confirm a diagnosis of Chronic Granulomatous Disease? What will the result be?
Nitro-Blue tetrazolium = negative in CGD.
What are some symptoms of chronic granulomatous disease?
Pneumonia
Abscesses
Suppurative arthritis
What is the basic pathophysiology in chronic granulomatous disease?
Defect in one of the four subunits of NADPH oxidase leading to failure of oxidative killing.
What therapy can we give to patients with chronic granulomatous disease?
Prophylactic Co-trimoxazole
What does reticular dysgenesis result in?
Complete absense of granulocytes: Neutrophils; Eosinophils; Basophils; Mast Cells.
What are the different pathways in complement activation?
Classical
Lectin
Alternative
Which complement deficiencies are associated with SLE?
low C3 and C4
Membranoproliferative glomerulonephritis can cause what complement deficiencies?
low C3
Define type 1 hypersensitivity.
Reaction provoked by re-exposure to an allergen. IgE mediated.
Give some examples of Type 1 Hypersensitivity disorders.
Asthma Allergic rhinitis Atopic dermatitis Food allergy Angioedema