7
Diagnosis
General Considerations
Î SS 1. It is critical to maintain a high index of suspicion for PIDDs in
patients presenting with recurrent infections, autoimmune disease,
malignancy, and combinations of these conditions (D).
Î SS 2. Other conditions that can increase susceptibility to infection
should be sought in patients with suspected PIDDs. (D)
Î SS 3. It is important to confirm the precise focus of infection and
organism when possible in any patient with known or suspected
PIDDs. (F)
Î SS 4. A focused family history (eg, recurrent infections, absence of
infections in siblings, early childhood deaths, and diagnosed PIDDs)
should be obtained when the differential diagnosis includes a PIDD. (D)
Î SS 5. A stepwise approach is recommended to evaluate suspected
PIDDs. (D)
Î SS 6. Evaluation of specific immune responses is essential for
diagnosis of PIDDs. (C)
Î SS 7. PIDDs should be defined at the molecular genetic level if
management can be affected. (F)
Î SS 8. The possibility of an X-linked PIDD should be considered, even
in female patients, when other possibilities have been ruled out. (D)
Î SS 9. Carrier status should be determined for all potentially affected
relatives of patients with severe PIDDs. (D)
