PMC10011480_01
Clinical images. (A): ulcer on tongue, F1-3B. (B): facial rash, F1-3B. (C): vesicular rash on lower abdomen, HSV negative, F4-4B. (D): vesicular rash on inner thigh, F4-4B. (E): conjunctivitis, F3-2B. (F): Skin biopsy of F2-2G, showing an ulcerated lesion covered by fibrinoleukocytic exudate. The surrounding epidermis demonstrates discrete irregular epithelial hyperplasia. The dermis presents moderate lymphoplasmacytic and histiocytic infiltrate associated with neutrophilic exudates.
fimmu-14-1127085-g002.jpg
PMC10011480_03_fimmu-14-1127085-g002.jpg
f2
She also had tendonitis, conjunctivitis, sicca, and a history of 2 miscarriages ( Figure 2E ). He also had muscle weakness, vesicular rash ( Figures 2C, D ) and skin ulcerations (in the abdomen, groin, thigh, peri-rectal areas).
PMC10011480_02
Proband in each family is denoted with arrow. Individuals shaded in black carry a combination of clinical features including mucocutaneous, musculoskeletal, gastrointestinal, neurological manifestations, infections, or fever. G+ denotes individual carrying pathogenic/likely pathogenic RELA variant, G- denotes wild type RELA, individuals without 'G' were not sequenced. Patient (2D) in Family 2 died of lupus nephritis and is shaded in gray. Family 4: patients 1A and 3A presented with an isolated vesicular skin lesions and are shaded in dots.
fimmu-14-1127085-g001.jpg
PMC10011480_03_fimmu-14-1127085-g001.jpg
f1
Clinical images. (A): ulcer on tongue, F1-3B. (B): facial rash, F1-3B. (C): vesicular rash on lower abdomen, HSV negative, F4-4B. (D): vesicular rash on inner thigh, F4-4B. (E): conjunctivitis, F3-2B. (F): Skin biopsy of F2-2G, showing an ulcerated lesion covered by fibrinoleukocytic exudate. The surrounding epidermis demonstrates discrete irregular epithelial hyperplasia. The dermis presents moderate lymphoplasmacytic and histiocytic infiltrate associated with neutrophilic exudates.
fimmu-14-1127085-g002.jpg
PMC10011480_03_fimmu-14-1127085-g002.jpg
f2
She also had tendonitis, conjunctivitis, sicca, and a history of 2 miscarriages ( Figure 2E ). He also had muscle weakness, vesicular rash ( Figures 2C, D ) and skin ulcerations (in the abdomen, groin, thigh, peri-rectal areas).
PMC10011480_03
Proband in each family is denoted with arrow. Individuals shaded in black carry a combination of clinical features including mucocutaneous, musculoskeletal, gastrointestinal, neurological manifestations, infections, or fever. G+ denotes individual carrying pathogenic/likely pathogenic RELA variant, G- denotes wild type RELA, individuals without 'G' were not sequenced. Patient (2D) in Family 2 died of lupus nephritis and is shaded in gray. Family 4: patients 1A and 3A presented with an isolated vesicular skin lesions and are shaded in dots.
fimmu-14-1127085-g001.jpg
PMC10011480_03_fimmu-14-1127085-g001.jpg
f1
Clinical images. (A): ulcer on tongue, F1-3B. (B): facial rash, F1-3B. (C): vesicular rash on lower abdomen, HSV negative, F4-4B. (D): vesicular rash on inner thigh, F4-4B. (E): conjunctivitis, F3-2B. (F): Skin biopsy of F2-2G, showing an ulcerated lesion covered by fibrinoleukocytic exudate. The surrounding epidermis demonstrates discrete irregular epithelial hyperplasia. The dermis presents moderate lymphoplasmacytic and histiocytic infiltrate associated with neutrophilic exudates.
fimmu-14-1127085-g002.jpg
PMC10011480_03_fimmu-14-1127085-g002.jpg
f2
She also had tendonitis, conjunctivitis, sicca, and a history of 2 miscarriages ( Figure 2E ). He also had muscle weakness, vesicular rash ( Figures 2C, D ) and skin ulcerations (in the abdomen, groin, thigh, peri-rectal areas).