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. Author manuscript; available in PMC: 2018 Sep 22.
Published in final edited form as: N Engl J Med. 2018 Mar 22;378(12):1132–1141. doi: 10.1056/NEJMra1713301

Figure 3. Diagnostic Evaluation for APS.

Figure 3

Patients with a clinical diagnosis of APS-1 (upper left box) should have the AIRE gene sequenced for autoimmune regulator (AIRE) mutations. Patients with a clinical phenotype suggestive for APS-1 (upper right box) should be screened for interferon autoantibodies before AIRE sequencing. Since interferon autoantibody screening currently is available only in research laboratories, consider to go directly to sequencing of AIRE. Combined immune deficiency (CID) due to hypomorphic recombination-activation gene (RAG) mutations including Omenn syndrome, and granulomatous disease and/or autoimmunity. Other abbreviations: POI, premature ovarian insufficiency; OSAD organ-specific autoimmunity; MG, myasthenia gravis.