![]() ![]() False (-) antibodies for Celiac screen, since anti-tissue transglutaminase, -gliadin/-endomysial are IgA.Īnswer for IgA deficiency will be “defect in humoral immunity,” or “deficiency of mucosal immunoglobulin.” Note the former can be correct for either Bruton or IgA deficiency, but the latter would be wrong for Bruton.Other autoimmune diseases (e.g., vitiligo).Atopy (asthma, seasonal allergies, eczema).Patient now presents with sore cheeks (sinusitis).Ĭlassic /easy Step 1 detail is Hx of anaphylaxis with blood transfusion, but for 2CK, you need to know IgA deficiency also presents with: Usually a 16-35-year-old with Hx of a few pneumonias and/or several instances of sinusitis, treated with antibiotics. I will always tell students you can Dx this one because the presentation is “not that bad,” which means the vignette won’t give you a a young, sick kid as with the Bruton and SCID vignettes. Presentation is always recurrent sinopulmonary infections in a teenager or young adult. IgA deficiency is probably the highest yield immunodeficiency for the 2CK and peds shelf. Newer CGD Qs on the peds forms are now giving recurrent Staph infections as the presentation. They have both answer choices on NBME 15 or 16 for Step 1 and dihydrorhodamine test is correct. In other words, if Q mentions Hx of Serratia sepsis, you’re likely dealing with CGD.ĭx with dihydrorhodamine test tetrazolium blue assay is now obsolete and the WRONG answer. The bolded ones are ultra-HY as more specific for NADPH oxidase deficiency. Serratia/Staph, Pseudomonas, Actinomyces/Aspergillus, Candida, E.Sometimes the answer for Bruton is “deficiency of humoral immunity.”Ĭhronic granulomatous disease (CGD aka respiratory burst aka NADPH oxidase deficiency) –> susceptibility to catalase (+) organisms –> SPACES For SCID, must do bone marrow transplant. The key to this Q was that the infections were limited to bacterial, whereas in SCID, there will certainly be a variety of infections.įor Bruton, supply immunoglobulins to Tx. ![]() This is “outrageous” because the timeframe has always been a classic means to distinguish Bruton from SCID, but we can’t argue with the NBME/USMLE. However one of the Qs on a newer Peds form says “bacterial infections since birth” for a Bruton Q. SCID is classically all different types of infections (bacterial, viral, fungal, protozoal) from birth. X-linked SCID = common gamma chain mutation, or IL-2 receptor deficiency.ĪR SCID = adenosine deaminase deficiency. Severe combined immunodeficiency (SCID) –> X-linked (more common) or AR. The disease is also known as the living in the bubble syndrome because living in a normal environment can be fatal to a child who has it. As a result, the child is unable to fight off even mild infections. It causes a child to have a very weak immune system. T cell deficiency –> Q may mention absent thymic shadow.ī cell deficiency –> Q may say absent or scanty lymph nodes + tonsils.īruton X-linked agammaglobulinemia –> B cell deficiency –> bacterial infections only since ~6 months of age. SCID is a very rare disease that can be deadly. Recurrent varicella infections what is the immunologic defect? –> answer = T cell dysfunction (defect in cell-mediated immunity). ![]()
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