Flashcards in Immunodeficiencies Deck (17)
Note: they may have preserved or even high levels of b cells however these are pre- b cells and are non functioning
Hyper Ig M
Bare T lymphocyte syndrome
selective IgA deficiency
Common Variable immune deficiency
Same as Hyper IgM in that the defect is in class switching but doesnt produce LOADS of IgM
leukocyte adhesion markers are normal, Nitro blue test is negative and there is no pus.
kostmans and would also show a neutropenia
leukocyte adhesion markers are abnormal, Nitro blue test is normal and there is no pus.
leukocyte adhesion deficiency they would have a slightly increased neutrophil count in infections.
LAMs are normal and there is pus. NBT is abnormal.
Chronic granulomatous disease
would have a normal neutrophil count
What is the gene mutation involved in reticular dysgenesis?
This is the most severe form of SCID which results in absence of myeloid and lympoid cells. BMT is the only cure otherwise will die in early life
What would ou expect to see in a child with wiscott aldrich syndrome?
Eczema - Raised IgE
Bloody diarrhoea - Raised IgA
Nose bleeds - Low platelets
Low IgM recurrent infection
WASp gene - X linked recessive
What does an abnormal AP50 test show?
Dysfunctional alternative pathway. this pathway is involved in killing bacteria and encapsulated organisms are likely to cause a lot of illnes.
What does an abnormal CH50 show?
Defect in Classical pathway with lack of either c1q/r/s, C2, and c4. Involved in removing immune complexes too. therefore often assocaited with SLE.
What does an abnormal CH50 AND AP50 mean?
Common pathway defiency eg: C3/5/6/7/8/9
They get meningtitis and pneumonia as they cannot form MAC.
What would a MBL deficiency yield?
Very little clinical significane and are quite common but no lectin pathway for activation.