Table 1 Clinical characteristics of autosomal-dominant STAT5B-deficient index patients and comparison to previously reported autosomal-recessive STAT5B cases
Proband 1 [p.Gln177Pro] | Proband 2 [p.Ala478Val] | Proband 3 [p.Gln474Arg] | Published AR cases {n} | |
|---|---|---|---|---|
Sex | Male | Male | Female | f/m = 7/3 {10} |
Age (years) | 14.5 | 1.8 | 12.8a | 1.9–18.0 {10} |
Birth data | ||||
Gestational age (weeks) | 36 | 39 | 39 | Preterm: 6/8 {8} |
Birth weight (g) [SDS] | 2500 [−0.9] | 3460 [0.1] | 3317 [0.2] | [−2.4 to 3.0]b {6} |
Birth length (cm) [SDS] | 45 [−1.7] | nd | 48 [−0.2] | [−2.4 to 2.3]b {5} |
Auxological features | ||||
Weight (kg) [SDS] | 28.0 [−4.5] | 9.5 [−2.3] | 22.8 [−4.7] | [−6.7 to −3.6] {4} |
Height (cm) [SDS] | 131.5 [−5.3] | 76.8 [−2.9] | 123.8 [−4.5] | [−9.9 to −4.3] {10} |
Target height (SDS) | −0.74 | −0.83 | −1.01 | −1.98 to −0.11 {8} |
Head circumference (SDS) | −0.53 | −1.70 | −3.73 | −1.40, −2.86 {2} |
Bone age (years) | 9.6 | nd | 8.8 | Delayed: 7/7 {7} |
Puberty | Delayed | na | Delayed | Delayed: 6/7 {7} |
Endocrine features | ||||
GH, basal (ng ml−1) | 0.4 | 3.2 | 2.0 | 0.1–17.6 {10} |
GH, stimulated (ng ml−1) | 16.2 | 17.3 | 4.0 | 6.6–53.8 {7} |
IGF1 (ng ml−1) [SDS/reference range] | 56 [76–499] | <25 [51–303] | 208 [−1.5] | <normal: 10/10 {10} |
IGFBP3 (mg l−1) [SDS/reference range] | 2.33c [−1.7] | 1.29 [0.8–3.9] | 3.80 [3.9–9.4] | <normal: 10/10 {10} |
IGFALS [reference range] | 418 p mol l−1 c [986–1678] | nd | 13 mg l−1 [5.6–16.0] | <normal: 6/6 {6} |
Prolactin (mU l−1) [reference range] | 291c [86–324] | 553 [163–1039] | 621d [<383] | >normal: 6/7 {7} |
Immunological and pulmonary phenotype | ||||
IgE (kU l−1) [reference range] | 156/340e [<200/<114] | 118 [<52] | 127 [<629] | >normal: 4/7 {5} |
Hemorrhagic Varicella | No | No | No | 5/5 {5} |
Chronic pulmonary disease | Recurrent infections | No | No | 8/10 {10} |
Lung fibrosis | nd | nd | No | 6/7 {7} |
Lymphocytic interstitial pneumonia (LIP) | nd | nd | No | 7/8 {8}f |
Eczema/skin pathology | Yes | Yes | No | 8/8 {8} |
Otherwise disturbed immunological profiles | No | No | No | 5/7 {7} |
Autoimmune disease | No | No | Thyroiditis; celiac disease | 6/10 {10}f |
