PMC7270203_01
Painful, deep ulcer in the left buccal mucosa at age 26.
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F1
We first saw the patient at age 25 during the episode what the patient defined as the most severe attack of oropharyngeal ulceration (Figure 1).
(A) Pedigree of patient 1 and patient 2 (black arrows). (B) Novel heterozygous mutation affecting the DNA binding domain of STAT1 was detected in the patient and her daughter.
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F2
The baby of Patient 1 was breastfed for 6 months and she has had only mild gluteal and oral candidiasis after birth (Figure 2A).