Description

Ettinger et al reviewed skin conditions associated with primary immunodeficiencies.

The authors are from University Medical Center Regensburg and University Hospital of Cologne.


Patient selection: primary immunodeficiency and mycobacterial skin infection (often due to an atypical mycobacteria)

 

Conditions to consider include:

(1) GATA2 defects (GATA2)

(2) interferon-gamma R1/2 defects (IFNGR1/2)

(3) IRF8 defects (IRF8)

(4) ISG-15 disease (ISG15)

(5) macrophage gp91 phox defect (CYBB)

(6) Mendelian susceptibility to mycobacterial disease (MSMD; IFNGR1/2, IL1 2B/RB1)

(7) NEMO (X-linked ectodermal dysplasia with immunodeficiency; NEMO)

(8) STAT1 defect (STAT1)


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