Table 1.
Clinical characteristics of patients with de novo STAT3 mutations.
| Patient 1 (female) | Patient 2 (male) | ||
|---|---|---|---|
| Birth | Gestational Age (weeks) | 38 | 38 |
| Birth weight (g) | 3155 | 3586 | |
| Birth length (cm/SDS) | 44 (−2.76) | 50.8 (−0.75) | |
| First visit | Chronological Age (years) | 2.5 | 3.0 |
| Height (SDS) | −6.4 | −5.4 | |
| Weight (SDS) | −3.4 | −2.7 | |
| Clinical features | Congenital autoimmune hypothyroidism, descamative eczema, chronic diarrhea, recurrent oral candidiasis, severe respiratory infections | History of IPEX-like syndrome with dermatitis, chronic diarrhea, colitis, autoimmune hypothyroidism | |
| Immunological evaluation | IgG (RR: 760–1348mg/dL) | 637 | 760 |
| IgA(RR: 40–132 mg/dL) | 389 | 211 | |
| IgM (RR: 79–131 mg/dL) (mg/dL) | 103 | 134 | |
| IgE (RR: 8–32 UI/mL) | <5 | <1 | |
| CD3/CD4/CD8/CD19/CD3CD56(%) | 49/34/14/42/8 | 82/35/45/12/nd | |
| FOXP3/Treg CD127/Thl7 | N/N/low | N/N/N | |
| Endocrine evaluation | GH (ng/ml) | 20 | - |
| IGF-I (ng/ml) basal (RR: 35–160) | <12 | <25 | |
| post 1GF-GT (rhGH for 7d) | 20 | ||
| IGFBP-3 (ng/ml) basal (RR: 1.7–4.2) | 1.0 | 0.5 | |
| post 1GF-GT (rhGH for 7d) | 2.2 | ||
| Prolactin (ng/ml) (RR: 2–15) | 30,6 | ||
| TSH (mlU/ml) (RR: 0.5–6.5) | 238 | 364 | |
| FT4 (ng/dl) (RR: 0.8–2.0) | 0.4 | 0.2 | |
| TPO-Ab/TG-Ab (IU/ml) (RR:<20/<20) | 83/48 | >1000/165 | |
| rhGH treatment | Dose | 0.43 mg/kg.wk | 0.3 mg/kg.d |
| Height gain (SDS)/Period (years) | 1.4/2 | 0.42/1.4 | |
| IGF-I (ng/ml) | 240 | ||
| IGFBP-3 (ng/ml) | 4.4 | ||
| Molecular studies | WES: Heterozygous de novo STAT3 variants | c.l847_1849delAAG (p.Glu616del) | C.1276T>C (p.Cys426Arg) |
| SH2 domain | DNA binding domain |
RR: Reference range. N: Normal. nd: Not determined.
For Patient 1, height SDS was based on Argentinean growth references (Lejarraga et al., 2009) and for Patient 2, on 2000 CDC growth charts (Kuczmarski et al., 2002).