Table 1.
Syndromic features of JAK1-mediated disease in six affected probandsa
| Proband | P3 | P7 | P9 | P11 | P13 | P16 |
|---|---|---|---|---|---|---|
| Age in years (at time of study) | 14 | 4 | 21 | 7 | 39 | 7 |
| Race/ethnicity (self-reported) | European/French | African American | Ashkenazi Jewish | Ashkenazi Jewish | Mestizo S. American | Ashkenazi Jewish |
| JAK1 variant | c.415C>T; p.E139K | c.1516C>T; p.R506C | c.1516C>T; p.R506C | c.1516C>T; p.R506C | c.2099G>A; p.S700N | c.2953G>A; p.V985I |
| Neonatal/developmental | ||||||
| Recurrent infections | ✓ | − | − | ✓ | ✓ | ✓ |
| Growth deceleration | ✓ | ✓ | − | ✓ | − | − |
| Adverse reactions to vaccines | − | − | − | ✓ | ✓ | − |
| Autoimmunity | ||||||
| Myasthenia gravis | − | − | ✓ | − | − | − |
| Autoimmune hepatitis | − | − | − | − | ✓ | − |
| Autoimmune thrombocytopenia | − | − | − | − | ✓ | − |
| Other autoimmune | ✓ | − | − | − | ✓ | − |
| Atopy (excluding dermatitis) | ||||||
| Food allergy | ✓ | ✓ | − | ✓ | − | ✓ |
| Asthma | ✓ | − | − | ✓ | ✓ | − |
| Allergic rhinitis | − | − | − | − | ✓ | − |
| Colitis (GI inflammation) | ||||||
| IBD | − | ✓ | ✓ | − | − | ✓ |
| Diarrhea/constipation (non-IBD) | ✓ | − | − | ✓ | ✓ | ✓ |
| Eosinophilic esophagitis | − | − | − | − | − | ✓ |
| Dermatitis | ||||||
| Atopic dermatitis | ✓ | ✓ | − | ✓ | − | ✓ |
| Hematologic | ||||||
| Peripheral leukocyte anomaly | − | − | − | − | ✓ | − |
| Peripheral eosinophilia | ✓ | ✓ | − | ✓ | − | ✓ |
| Ig abnormalities | ✓ | ✓ | − | ✓ | ✓ | ✓ |
| Family history (of any category) | ✓ | − | ✓ | ✓ | − | ✓ |
| Neonatal/developmental sum | 2 | 1 | 0 | 3 | 2 | 1 |
| Autoimmunity sum | 1 | 0 | 1 | 0 | 3 | 0 |
| Atopy sum | 2 | 1 | 0 | 2 | 2 | 1 |
| Colitis sum | 1 | 1 | 1 | 1 | 1 | 2 |
| Dermatitis sum | 1 | 1 | 0 | 1 | 0 | 1 |
| Hematologic sum | 2 | 2 | 0 | 2 | 2 | 2 |
| Family history | 1 | 0 | 1 | 1 | 0 | 0 |
| Grand total | 10 | 6 | 3 | 10 | 10 | 7 |
a
Check marks (✓) indicate pertinent positives in medical history. Dashes (−) indicate pertinent negatives in medical history. Results reported in binary terms (yes/no) (i.e., whether or not a sign/symptom was present, not how many times a given sign/symptom was present).