Table 1

Patient cohort

NumberKindredAge*cDNAProteinHPV = 1Myco = 1URTI = 1Lung = 1AI = 1Clinical ScoreMDSLymphCancer
1 1.I.1† 12 c.599_600insG G200fs + +    2    
2 2.I.1†§ 26 1061 C>T T354M + +    2    
3|| 3.II.6§ 34 1192 C>T R398W +   +  2 +  a 
4 3.III.1† 22 1192 C>T R398W +   +  2   b 
5 3.III.3 26 1192 C>T R398W      0    
6 4.I.1† 18 c.1018-1 G>T △340-381 +  +  + 3    
7 5.I.1§ 40 1192 C>T R398W + +   + 3 +   
8 6.I.1 18 c.594delG G199fs +  + + + 4  +  
9 6.II.1 17 c.594delG G199fs   +   1 +   
10 6.II.2 13 c.594delG G199fs +     1    
11|| 7.I.1§ 10 c.318_319insT S106fs +   +  2    
12|| 7.II.1§ 10 c.318_319insT S106fs +     1  + c 
13 8.I.2 62 1193 G>A R398Q      0    
14|| 8.I.3 25 1193 G>A R398Q +     1 mono 7   
15 8.II.1 36 1193 G>A R398Q + +  +  3    
16 8.II.4 32 1193 G>A R398Q      0    
17 8.II.5 29 1193 G>A R398Q      0    
18 9.III.1‡ 31 1061 C>T T354M + +  +  3 +   
19 9.III.2‡ 29 1061 C>T T354M +     1    
20 9.III.3‡ 22 1061 C>T T354M      0    
21 9.III.4‡ 17 1061 C>T T354M      0    
22 9.III.5‡ 17 1061 C>T T354M     + 1 tri 8   
23 10.I.1 22 c.1114 G>A A372T +   +  2    
24 11.I.1 8 c.257_258delGC C85fs     + 1 mono 7   
25 12.I.1§ 22 c.1018-1 G>A △340-381 + +  + + 4 +  d 
26 13.I.1 19 c.735_736insC P245fs +     1    
27 14.I.1 60 c.599_600insG G200fs    + + 2 tri 8   
c.599_600insG G200fs          
28 14.II.2 30 c.1168_1170del1AAG 390delK    +  1 +   
29 15.I.1 4 1081 C>T R361C +    + 2 + + e 
30 16.I.1 9 c.1081-3_1031del17 A341fs +     1  + f 
NumberKindredAge*cDNAProteinHPV = 1Myco = 1URTI = 1Lung = 1AI = 1Clinical ScoreMDSLymphCancer
1 1.I.1† 12 c.599_600insG G200fs + +    2    
2 2.I.1†§ 26 1061 C>T T354M + +    2    
3|| 3.II.6§ 34 1192 C>T R398W +   +  2 +  a 
4 3.III.1† 22 1192 C>T R398W +   +  2   b 
5 3.III.3 26 1192 C>T R398W      0    
6 4.I.1† 18 c.1018-1 G>T △340-381 +  +  + 3    
7 5.I.1§ 40 1192 C>T R398W + +   + 3 +   
8 6.I.1 18 c.594delG G199fs +  + + + 4  +  
9 6.II.1 17 c.594delG G199fs   +   1 +   
10 6.II.2 13 c.594delG G199fs +     1    
11|| 7.I.1§ 10 c.318_319insT S106fs +   +  2    
12|| 7.II.1§ 10 c.318_319insT S106fs +     1  + c 
13 8.I.2 62 1193 G>A R398Q      0    
14|| 8.I.3 25 1193 G>A R398Q +     1 mono 7   
15 8.II.1 36 1193 G>A R398Q + +  +  3    
16 8.II.4 32 1193 G>A R398Q      0    
17 8.II.5 29 1193 G>A R398Q      0    
18 9.III.1‡ 31 1061 C>T T354M + +  +  3 +   
19 9.III.2‡ 29 1061 C>T T354M +     1    
20 9.III.3‡ 22 1061 C>T T354M      0    
21 9.III.4‡ 17 1061 C>T T354M      0    
22 9.III.5‡ 17 1061 C>T T354M     + 1 tri 8   
23 10.I.1 22 c.1114 G>A A372T +   +  2    
24 11.I.1 8 c.257_258delGC C85fs     + 1 mono 7   
25 12.I.1§ 22 c.1018-1 G>A △340-381 + +  + + 4 +  d 
26 13.I.1 19 c.735_736insC P245fs +     1    
27 14.I.1 60 c.599_600insG G200fs    + + 2 tri 8   
c.599_600insG G200fs          
28 14.II.2 30 c.1168_1170del1AAG 390delK    +  1 +   
29 15.I.1 4 1081 C>T R361C +    + 2 + + e 
30 16.I.1 9 c.1081-3_1031del17 A341fs +     1  + f 

A survey of the most common clinical features of the cohort is presented. HPV (persistent infection of hands, feet, or perineum with HPV); Myco (any history of mycobacterial infection); URTI (more than 3 episodes of recurrent bacterial sinusitis, otitis, or other URTI); Lung (loss of lung volume or transfer factor <80% predicted, history of bronchiectasis, chronic bronchitis, more than one episode of pneumonia, radiologically or pathologically confirmed pulmonary alveolar proteinosis); AI (autoimmunity: arthritis, panniculitis, or autoimmune cytopenia); MDS (WHO: refractory cytopenia with multilineage dysplasia); Lymph (lymphedema); and Cancer (nonhematopoietic malignancy). The clinical score was derived by giving 1 point for each of the categories: HPV, Myco, URTI, Lung, and AI. Cytogenetics are indicated in the MDS column: mono 7, monosomy 7, tri 8, and trisomy 8. Lowercase letters indicate solid malignancy, as follows: a, cervical intra-epithelial dysplasia 3; b, ano-genital dysplasia with vulval intra-epithelial neoplasia 3; c, cervical intra-epithelial dysplasia 3; d, schwannoma/neuroma; e, cervical intra-epithelial dysplasia 3 and squamous carcinoma of vulva; and f, ano-genital dysplasia. Blank spaces indicate the absence of a clinical feature.

*

Age at clinical presentation or detection of mutation, if asymptomatic.

†

Patients published.2 

‡

Pedigree previously described.14 

§

Deceased.

||

Genotype and clinical phenotype only.

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