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 with petechiae and/or purpura
Conditions to consider include:
(1) Wiskott-Aldrich syndrome (WAS)
(2) C2 deficiency (C2)
(3) C4 deficiency (C4A/B)
(4) Chediak-Higashi syndrome (LYST)
(5) common variable immunodeficiency = CVID (multiple)
(6) dyskeratosis congenita (multiple))
(7) Fanconi anemia (multiple)
(8) hepatic venoocclusive disease with immunodeficiency = VODI (SP110)
(9) Hermansky-Pudlak syndrome type 2 (AP3B1)
(10) IKAROS defect (IKZF1)
(11) RNASEH2 (A-C) deficiency = AGS2-4 (RNASEH2A-C)
(12) SAMHDI deficiency = AGS5 (SAMHD1)
(13) Schwachmann-Bodian-Diamond syndrome (SBDS)
(14) TREX1-deficiency = AGS1 = Aicardi-Goutieres syndrome 1 (TREX1)
(15) WIP deficiency (WIPF1)
