PIDs Flashcards
Neutrophil defects workup:
Oxidative burst (DHR preferred).
Complement defects workup:
CH50 (MUST be 0).
Antibody defects workup:
Quantitative immunoglobulins (GAME).
Also consider Sweat chloride test for CF.
Combined T cell/B cell defects workup:
Flow cytometry (lymphocyte subset enumeration).
Pneumocystis jiroveci think what…
And how do you confirm?
SCID
Confirm with lymphocyte enumeration (will have low naive T cells).
What do you screen for in newborn SCID testing?
TRECs
Low set ears and cardiac defects think what…
And how do you confirm?
DiGeorge (22q)
Confirm with DNA microarray. In the future with RT-PCR for TBX1 (which is deleted).
Recurrent RTIs think what…
What’s the cause?
And how do you confirm?
Agammaglobulinemia (if boy XLA).
Mutation in Btk.
Will have NO B cells.
Adult with pneumonia think what…
And how do you confirm?
CVID
Low IgG AND low IgA/IgM (most commonly IgA). Will have normal B cell count (they just don’t work).
Microcytic anemia, mild abdominal pain (celiac) and no IgA think what…
IgA deficiency.
What is a heterophile antibody?
Antibody that recognizes an antigen different than the antigen that originally induced the antibody response.
What is Specific Antibody Deficiency and how do you test for it?
Recurrent sinopulmonary infections despite normal IgG, IgA, IgM and normal T cell function.
Watch for antibody response to polysaccharide immunization (will be abnormal).
Kid with liver abscess think what…
And how do you confirm?
How do you treat?
CGD.
Confirm with DHR.
Bone marrow transplant.
Gingivitis, skin ulcers without pus think what…
How do you confirm?
LAD-1
Flow cytometry for CD18 deficiency.
Recurrent N.meningitidis infection think what…
How do you confirm?
Late complement deficiency (C5-C9)
CH50 (must be 0).
