Ettinger et al reviewed mucocutaneous conditions associated with primary immunodeficiencies.
The authors are from University Medical Center Regensburg and University Hospital of Cologne.
Patient selection: primary immunodeficiency with oral ulcer, aphthous ulcer, gingivitis, periodontitis, leukokeratosis (excluding oral candidiasis)
Conditions to consider:
(1) congenital cyclic neutropenia (ELANE, HAX1, G6PC3, VPS45A, JAGN1, GF11, GSD1b, CTSC, WAS)
(2) leukocyte adhesion deficiency = LAD (ITGB2, SLC35C1, FERMT3)
(3) Chediak-Higash syndrome (LYST)
(4) chronic granulomatous disease (CYBA/B, NCF1/2/4)
(5) dyskeratosis congenita (ACD, CTC1, DKC1, NHP2, RTEL1, NOP10, PARN, TCAB1, TERC/T, TINF2)
(6) X-linked agammaglobulinemia = XLA (BTK)
(7) CD40 ligand deficiency = X-chromosome recessive Hyper IgM syndrome (CD154)
(8) CD40 deficiency = autosomal recessive Hyper IgM syndrome (CD40)
Oral ulcers: 1, 2, 3, 5, 6
Aphthous ulcers: 4
Gingivitis: 2, 3, 4
Periodontitis: 1, 2, 3
Leukokeratosis: 5, 6
Oral ulcer with cutaneous Pseudomonas aeruginosa infection: 7, 8
