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Section 1. Clinical Approach to the Diagnosis of Inborn
Errors of Immunity
Recommendation 1.1
➤ We recommend investigating for IEI diagnosis in patients with
recurrent, severe, or rare infections, autoinflammation, autoimmunity,
severe atopy, atypical malignancy, bone marrow failure, or
combinations of these conditions. (S-H)
Recommendation 1.2
➤ We recommend obtaining a detailed family history to support the IEI
diagnosis and to identify undiagnosed affected relatives. (S-M)
Recommendation 1.3
➤ We recommend an integrated approach for the diagnosis of a
suspected IEI: clinical, immunologic, and genetic components. (S-M)
Recommendation 1.4
➤ We recommend that the evaluation of immunodeficiency should
include testing for secondary causes of immunodeficiency. (S-M)
Recommendation 1.5
➤ We suggest consultation with a clinical immunology expert and
multidisciplinary care for the evaluation and follow-up of suspected or
diagnosed patients with IEI. (C-M)
Recommendation 1.6
➤ We suggest the provision of supportive resources (e.g., social,
educational, emotional) for patients and families diagnosed with IEI.
(C-L)
Diagnosis
