Table 5.

Phenotype of Patients Carrying Homozygous STAT5B Mutations

STAT5B Mutation Homozygous	Sex	Age (y)	Height (SDS)	Birth	GHI	IGFD	Prolactin Elevated	Hypergamma-globulinemia	T-Cell Lymphopenia	Pulmonary Disease	Reference
p.Ala630Proa	F	16.5	−7.5	AGA	+++	+++	+++	+++	+++	+++	(6)
c.1191insG a	F	16.4	−7.8	AGA	+++	+++	ND	ND	ND	+++	(100)
p.Arg152*	F	15.3	−9.9	Unknown	ND	ND	+++	+++	+++	+++	(101)
p.Arg152*1	F	12	−5.3	SGA	+++	+++	Normal	No	No	+++	(102)
c.1102insC	M	31	−5.9	AGA	+++	+++	+++	No	No	No	(103)
c.1680delG b	F	2	−5.8	AGA	+++	+++	ND	ND	ND	+	(104)
c.1680delG b	F	4	−5.6	AGA	+++	+++	ND	ND	ND	+	(104)
c.424_427del c	M	6	−5.6	AGA	+++	+++	+++	+	+++	+++	(105)
c.424_427del c	M	2	−3.0	AGA	+++	+++	+++	No	+++	+++	(105)
p.Phe646Ser	F	14.8	−5.95	Unknown	+++	+++	+++	+++	+++	No	(106)

Phenotype was as described in reports. The nonsense mutation, p.Arg152*, was identified in two unrelated subjects. + to +++ indicate increasing severity of indications. [Reproduced with permission from Hwa V. STAT5B deficiency: impacts on human growth and immunity. Growth Horm IGF Res 2016;28:16–21.]

Abbreviations: AGA, appropriate for gestational age; F, female; M, male; ND, not determined; SGA, small for gestational age.

^aDeceased as of this review.

^bSiblings.

^cSiblings.