HY lecture notes:
Chronic mucocutaneous candidiasis (CMC) –> one of the highest-yield conditions for both 2CK and the peds shelf.
They’ll say theres a 17-year-old girl who has a one-year Hx of autoimmune thyroiditis, a 2-year Hx of type I diabetes mellitus, and a Hx of cutaneous candidal infections since childhood; what’s the Dx?
Initial thought could be, “Well doesn’t diabetes increase risk of candida?” Yeah, but if the infections have been since childhood, they clearly aren’t specifically due to the T1DM here.
Autoimmune diseases and immunodeficiencies are often linked, same as with IgA deficiency often presenting with atopy or vitiligo.
Answer for CMC = “defect in cell-mediated immunity”; this answer is exceedingly HY.
Tx cutaneous candida with oral fluconazole.
This is in contrast to tinea corporis (ring worm), which is Tx with topical clotrimazole or miconazole.
Tinea pedis is Tx with topical terbinafine or -azole.
Tinea capitis is Tx with oral griseofulvin.
Wiskott-Aldrich syndrome (X-linked recessive) presents with the triad of thrombocytopenia, eczematoid skin lesions, and immunodeficiency.
So you’ll get a 6M with epistaxis/petechiae, eczematoid skin lesions on the, e.g., forehead or trunk, and recurrent infections.
For WAS, you need to know the answer is “T cell dysfunction.” Yes, this is for 2CK/peds. They will give you the vignette of the triad in a boy, and then the answer is just “T cell” for which cell is dysfunctional.
Hyper IgM syndrome = deficiency of CD40 ligand on T cells (normally binds to CD40 on B cells, causing isotype class switching).
Hyper IgE syndrome (Jobs syndrome) = FATED = abnormal Facies, recurrent staphylococcal cold Abscesses, retained primary Teeth, hyper IgE, Dermatologic abnormalities.
Leukocyte adhesion deficiency = deficiency of LFA-1/CD18 integrin –> always presents with delayed separation of umbilical cord + recurrent infections with absent pus; answer will be “defective chemotaxis” or “defective leukocyte adhesion.”
IL-12 receptor deficiency = recurrent TB infections; Tx is with IFN-gamma.
