Table 1 Clinical features of patients molecularly diagnosed with NISBD1 in presented and reported cases.
Present case 1 | Present case 2 | Case 1 | Case 2 | Case 3 | Case 4 | |
|---|---|---|---|---|---|---|
Sex | Male | Male | Male | Female | Female | Male |
Perinatal history (birth weight) | 32 w of GA (1144 g) | 37 w of GA (2066 g) | Term | Term | Term (2790 g) | 37w of GA (2185 g) |
Consanguinity of parents | No | No | Yes (first cousins) | Yes (first cousins) | No | Yes (first cousins) |
Erythroderma | + | + | + | + | + | + |
Hair | Alopecia | Alopecia | Short/broken | Short/broken | Present at birth but shed soon thereafter | Alopecia |
Eyelashes and eyebrows | Present at birth but shed soon thereafter | Present at birth but shed soon thereafter | Wiry/ disorganised | Wiry/ disorganised | Present at birth but shed soon thereafter | sparse |
Refractory diarrhoea | + | + | + | + | + | + |
Recurrent infection | + Multiple (e.g. skin, sepsis) | + Multiple (e.g. skin, sepsis) | + Multiple (e.g. Blepharitis, Otitis externa) | + Multiple (e.g. blepharitis, otitis externa) | + Multiple (e.g. skin, sepsis) | + Multiple (e.g. sepsis, pneumonia, subcutaneous infection urinary tract infection) |
Hypertension | + | − | − | − | + (at 6 months of age) | − |
Malformations | − | Atrial septum defect | − | − | Ear tag | Atrial septum defect |
Cardiomegaly | + | + | + | − | - | − |
Renal enlargement | + | − | − | − | + | − |
Prognosis | Died at 4 months of age (respiratory failure with sepsis) | Alive at 2 years of age | Alive at 17 years of age | Died at 12 years of age (fulminant parvovirus B19-associated myocarditis) | Died at 10 months of age (respiratory insufficiency related to a respiratory syncytial virus) | Died at 2 years of age (respiratory failure and presumed sepsis) |
ADAM17 alterations | Compound heterozygous missense variants | Compound heterozygous missense variants | Homozygous frame-shift variant (4 bp deletion) | Homozygous frame-shift variant (4 bp deletion) | Homozygous frame-shift variant (1 bp insertion) | Homozygous gross deletion (exon 1) |
Reference | − | − |
