Table 1.
Genetic and clinical phenotype of STAT5B deficient patients
| STAT5B Exon | cDNA | Protein | Domain | Sex | Age (yr) | Height SDS | Birth | GHI | IGFD | Prolactin elevated | Hypergamma-globulinemia | T-cell lymphopenia | Pulmonary Disease | Reference |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Homozygous | ||||||||||||||
| 5 | c.424_427del | p.Leu142Argfs*20 | CCD | M | 6 | −5.6 | AGA | +++ | +++ | +++ | + | +++ | +++ | (54)# |
| 5 | c.424_427del | p.Leu142Arqfs*20 | CCD | M | 2 | −3.0 | AGA | +++ | +++ | +++ | No | +++ | +++ | (54)# |
| 5 | c.452T>C | p.Leu151 Pro | CCD | M | 8 | −3.2 | AGA | +++ | +++ | Normal | No | No | No | (60) |
| 5 | c.454C>T | p.Arg152* | CCD | F | 15.3 | −9.9 | NA | ND | ND | +++ | +++ | +++ | +++ | (57) |
| 5 | c.454C>T | p.Arq152* | CCD | F | 12 | −5.3 | SGA | +++ | +++ | Normal | N0 | No | +++ | (58) |
| 9 | c.1102insC | p.Gln368Profs*9 | DBD | M | 31 | −5.9 | AGA | +++ | +++ | +++ | No | No | No | (56) |
| 10 | c.1191insG | p.Asn398Glufs*16 | DBD | F | 16.4 | −7.8 | AGA | +++ | +++ | ND | ND | ND | +++ | (55) |
| 13 | c.1680delG | p.Glu561Arqfs*17 | Linker | F | 4 | −5.6 | AGA | +++ | +++ | ND | ND | ND | + | (53)$ |
| 13 | c.1680delG | p.Glu561Argfs*17 | Linker | F | 2 | −5.8 | AGA | +++ | +++ | ND | ND | ND | + | (53)$ |
| 15 | c.1888G>C | p.Ala630Pro | SH2 | F | 16.5 | −7.5 | AGA | +++ | +++ | +++ | +++ | +++ | +++ | (45) |
| 16 | c.1937T>C | p.Phe646Ser | SH2 | F | 14.8 | −5.95 | NA | +++ | +++ | +++ | +++ | +++ | No | (59) |
| Dominant-negative | ||||||||||||||
| 5 | c.530A>C | p.Gln177Pro | CCD | M | 14.5 | −5.3 | AGA | ++ | ++ | Normal | No | No | No | (65) |
| 12 | c.1421A>G | p.Gln474Arq | DBD | F | 12.8 | −4.5 | AGA | ++ | No | +++ | No | No | No | (65) |
| 12 | c.1433C>T | p.Ala478Val | DBD | M | 1.8 | −2.9 | AGA | ++ | +++ | Normal | No | No | No | (65) |
+ to +++, increasing severity of indications.
AGA, appropriate for gestational age; ND, not determined
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