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Table I.

Summary of the clinical and genetic data for the patients

Patient Age at presentation Origin Clinical features of CMC Cause of death (age/yr) Autoimmunity Genotype 
A-I-1 France Nails Not related to the disease (old age) None 
A-II-1 France Nails Not related to the disease (old age) None 
A-III-1 1 mo France Nails, oral cavity, oropharynx, genital mucosa  None WT/R274Q 
A-III-3 France Nails, oral cavity Not related to the disease (40) None 
A-III-4 France Nails, oral cavity  None 
A-IV-1 1 mo France Nails, oral cavity, oropharynx  None WT/R274Q 
B-II-1 France  None 
B-III-2 3 yr France Skin, nails, oral cavity, oropharynx, genital mucosa  None WT/K286I 
B-IV-1 5 yr France & Congo Skin, nails, oral cavity, oropharynx  None WT/K286I 
B-IV-2 5 mo France & Congo Skin, nails, oral cavity, oropharynx Cerebral aneurysm (8) None 
C-III-1 Turkey Nails, oral cavity, genital mucosa Cerebral aneurysm (34) Thyroid autoimmunity WT/R274Q 
C-IV-1 Turkey Nails, oral cavity  None WT/R274Q 
D-II-1 France Nails, oral cavity, genital mucosa  
D-III-2 7 yr France Skin, oral cavity, oropharynx  None WT/M202V 
D-IV-2 1 mo France Skin, nails, oropharynx  Thyroid autoimmunity WT/M202V 
E-II-1 1 yr Germany Skin, oral cavity, oropharynx Squamous cell carcinoma (54) 
E-III-2 1 yr Germany Nails, oral cavity, oropharynx, genital mucosa  Thyroid autoimmunity WT/C174R 
E-III-3 9 mo Germany Skin, nails, oral cavity, oropharynx, genital mucosa  Thyroid autoimmunity WT/C174R 
E-IV-1 18 mo Germany Skin, oral cavity, oropharynx, genital mucosa  None WT/C174R 
E-IV-2 2 yr Germany Skin, oral cavity, oropharynx  Thyroid autoimmunity WT/C174R 
E-IV-4 2 yr Germany Skin, oral cavity, oropharynx, genital mucosa  None WT/C174R 
E-IV-5 1 yr Germany Skin, nails, oral cavity, oropharynx  None WT/C174R 
F-III-2 1 mo Argentina Nails, oral cavity, oropharynx, genital mucosa  WT/R274W 
F-IV-2 1 mo Argentina Skin, nails, oral cavity, oropharynx  WT/R274W 
F-IV-3 6 mo Argentina Nails, oral cavity, genital mucosa  WT/R274W 
G-II-1 3 mo Ukrainian Nails, skin, oral cavity, oropharynx, esophagus  None WT/D165G 
H-I-2 1 yr Japan Skin, oropharynx, esophagus  WT/R274Q 
H-II-2 5 yr Japan Oral cavity, oropharynx  WT/R274Q 
I-II-3 9 mo Mexico Skin, nails, oral cavity, genital mucosa  None WT/T288A 
J-I-2 Switzerland Oral cavity, oropharynx  None WT/T288A 
J-II-2 3 mo Switzerland Oral cavity, oropharynx  WT/T288A 
K-II-2 11 mo Switzerland Nails, oral cavity, oropharynx  Thyroid autoimmunity WT/Y170N 
L-I-2 7 yr France Skin, nails, oropharynx, esophagus  Thyroid autoimmunity WT/R274Q 
L-II-1 1 mo France Skin, nails, oropharynx, esophagus  None WT/R274Q 
M-II-2 6 mo Germany Skin, nails, oropharynx, genital mucosa  Thyroid autoimmunity WT/D165H 
N-II-2 1 yr Germany Skin, nails, oropharynx Squamous cell carcinoma (54) None WT/R274W 
O-II-1 18 mo Germany Oral cavity, oropharynx  None WT/M202I 
P-I-1 1 yr Israel Oropharynx, genital mucosa Not related to the disease (46) None 
P-II-1 <2 yr Israel Skin, nails, oropharynx  None WT/A267V 
P-II-2 <2 yr Israel Skin, nails, oropharynx  None WT/A267V 
Q-II-1 1 mo France Skin, oral cavity, oropharynx, genital mucosa  None WT/R274W 
R-I-1 4 yr France Skin, nails, oropharynx Squamous cell carcinoma (55) None 
R-II-1 18 mo France Lips, oropharynx  None WT/M202V 
S-I-2 6 mo France Skin, oral cavity, oropharynx  Systemic lupus erythematosus WT/M202I 
S-II-2 1 yr France Nails  None 
S-II-3 1 mo France Skin, oropharynx  None WT/M202I 
T-II-3 1 yr Germany Skin, nails, oropharynx Squamous cell carcinoma (41) None WT/Q271P 
Patient Age at presentation Origin Clinical features of CMC Cause of death (age/yr) Autoimmunity Genotype 
A-I-1 France Nails Not related to the disease (old age) None 
A-II-1 France Nails Not related to the disease (old age) None 
A-III-1 1 mo France Nails, oral cavity, oropharynx, genital mucosa  None WT/R274Q 
A-III-3 France Nails, oral cavity Not related to the disease (40) None 
A-III-4 France Nails, oral cavity  None 
A-IV-1 1 mo France Nails, oral cavity, oropharynx  None WT/R274Q 
B-II-1 France  None 
B-III-2 3 yr France Skin, nails, oral cavity, oropharynx, genital mucosa  None WT/K286I 
B-IV-1 5 yr France & Congo Skin, nails, oral cavity, oropharynx  None WT/K286I 
B-IV-2 5 mo France & Congo Skin, nails, oral cavity, oropharynx Cerebral aneurysm (8) None 
C-III-1 Turkey Nails, oral cavity, genital mucosa Cerebral aneurysm (34) Thyroid autoimmunity WT/R274Q 
C-IV-1 Turkey Nails, oral cavity  None WT/R274Q 
D-II-1 France Nails, oral cavity, genital mucosa  
D-III-2 7 yr France Skin, oral cavity, oropharynx  None WT/M202V 
D-IV-2 1 mo France Skin, nails, oropharynx  Thyroid autoimmunity WT/M202V 
E-II-1 1 yr Germany Skin, oral cavity, oropharynx Squamous cell carcinoma (54) 
E-III-2 1 yr Germany Nails, oral cavity, oropharynx, genital mucosa  Thyroid autoimmunity WT/C174R 
E-III-3 9 mo Germany Skin, nails, oral cavity, oropharynx, genital mucosa  Thyroid autoimmunity WT/C174R 
E-IV-1 18 mo Germany Skin, oral cavity, oropharynx, genital mucosa  None WT/C174R 
E-IV-2 2 yr Germany Skin, oral cavity, oropharynx  Thyroid autoimmunity WT/C174R 
E-IV-4 2 yr Germany Skin, oral cavity, oropharynx, genital mucosa  None WT/C174R 
E-IV-5 1 yr Germany Skin, nails, oral cavity, oropharynx  None WT/C174R 
F-III-2 1 mo Argentina Nails, oral cavity, oropharynx, genital mucosa  WT/R274W 
F-IV-2 1 mo Argentina Skin, nails, oral cavity, oropharynx  WT/R274W 
F-IV-3 6 mo Argentina Nails, oral cavity, genital mucosa  WT/R274W 
G-II-1 3 mo Ukrainian Nails, skin, oral cavity, oropharynx, esophagus  None WT/D165G 
H-I-2 1 yr Japan Skin, oropharynx, esophagus  WT/R274Q 
H-II-2 5 yr Japan Oral cavity, oropharynx  WT/R274Q 
I-II-3 9 mo Mexico Skin, nails, oral cavity, genital mucosa  None WT/T288A 
J-I-2 Switzerland Oral cavity, oropharynx  None WT/T288A 
J-II-2 3 mo Switzerland Oral cavity, oropharynx  WT/T288A 
K-II-2 11 mo Switzerland Nails, oral cavity, oropharynx  Thyroid autoimmunity WT/Y170N 
L-I-2 7 yr France Skin, nails, oropharynx, esophagus  Thyroid autoimmunity WT/R274Q 
L-II-1 1 mo France Skin, nails, oropharynx, esophagus  None WT/R274Q 
M-II-2 6 mo Germany Skin, nails, oropharynx, genital mucosa  Thyroid autoimmunity WT/D165H 
N-II-2 1 yr Germany Skin, nails, oropharynx Squamous cell carcinoma (54) None WT/R274W 
O-II-1 18 mo Germany Oral cavity, oropharynx  None WT/M202I 
P-I-1 1 yr Israel Oropharynx, genital mucosa Not related to the disease (46) None 
P-II-1 <2 yr Israel Skin, nails, oropharynx  None WT/A267V 
P-II-2 <2 yr Israel Skin, nails, oropharynx  None WT/A267V 
Q-II-1 1 mo France Skin, oral cavity, oropharynx, genital mucosa  None WT/R274W 
R-I-1 4 yr France Skin, nails, oropharynx Squamous cell carcinoma (55) None 
R-II-1 18 mo France Lips, oropharynx  None WT/M202V 
S-I-2 6 mo France Skin, oral cavity, oropharynx  Systemic lupus erythematosus WT/M202I 
S-II-2 1 yr France Nails  None 
S-II-3 1 mo France Skin, oropharynx  None WT/M202I 
T-II-3 1 yr Germany Skin, nails, oropharynx Squamous cell carcinoma (41) None WT/Q271P 

None of the patients displays autoantibodies against IL-17A, IL-17F, and IL-22. -, unknown

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