Table 1. Clinical and genetic features... | Rockefeller University Press

Table 1.

Clinical and genetic features of patients harboring STAT2 variants with negative regulation

Family	Patient	Origin	Homozygous variant	Age at onset	Neurological features	Others	ISG signature	JAK inhibitor response	Outcome	Study
F1	P1	Iran	c.443G>A p.R148Q	6 wk	Seizure Intracranial calcifications Hemorrhage Atrophy encephalomalacia	Draining cervical adenitis Respiratory failure	Upregulated	Ruxolitinib, dramatic response to 5 mg, bid	Favorable developmental and respirator function at 24 mo 3 years old at 2025	Current
F2	P2	Iran	c.443G>A p.R148Q	20 days	Seizure Intracranial calcification Encephalitis Abnormal EEG	Draining adenitis Fever Respiratory failure	NA	No	Died at 8.5 years with influenza-induced respiratory failure	Current
F3	P3	Morocco	c.443G>A p.R148Q	15 days	Seizures Intracranial calcifications	Adenitis (P. aeruginosa and K. pneumoniae) Fever PAP Respiratory failure skin ulcerations Cardiomegaly	Upregulated	No	Died at 5 mo from respiratory failure	Gruber et al. (2020) (10)
F4	P4	Pakistan	c.442C>T p.R148W	Neonatal	Seizure Intracranial calcification Hemorrhage White matter changes Neurodevelopmental delay	Thrombocytopenia Recurrent HLH-like episodes Thrombotic microangiopathy Acute kidney injury Proteinuria	Upregulated	Ruxolitinib 2.5 mg bid, clinical stabilization and improved ISG score	Died in immediate post-HSCT period with sepsis (20 mo)	Duncan et al. (2019) (9)
F4	P5	Pakistan	c.442C>T p.R148W	3 wk	Recurrent apnea Intracranial calcification Hemorrhage White matter changes Cerebellar hypoplasia Brainstem atrophy Abnormal EEG	Preterm birth	Upregulated	Ruxolitinib 1 mg bid, partial response, improved ISG score but persistent neurodevelopmental abnormalities	Diet at 3 mo with severe neurologic impairment	Duncan et al. (2019) (9)
F5	P6	Russia	c.442C>T p.R148W	Neonatal	Seizures Intracranial calcifications Neurodevelopmental delay	Adenitis after BCG Fever Interstitial pneumonia and bronchiolitis	NA	Tofacitinib, 20 mg per day with clinical and picture improvements	5 years old in 2021	Kozlova et al. (2021) (17)
F6	P7	Turkey	c.656C>T p.A219V	5 mo	Intracranial calcifications Cerebral atrophy Delayed motor and speech Spastic paraparesis Stroke-like episodes of hemiparesis Pontine hemorrhage dystonia	Fever Abnormal liver function	Upregulated Tested by qPCR and NanoString assays	No	Severe neurologic sequelae at 20 years	Zhu et al. (2023) (11)

Family	Patient	Origin	Homozygous variant	Age at onset	Neurological features	Others	ISG signature	JAK inhibitor response	Outcome	Study
F1	P1	Iran	c.443G>A p.R148Q	6 wk	SeizureIntracranial calcificationsHemorrhageAtrophy encephalomalacia	Draining cervical adenitisRespiratory failure	Upregulated	Ruxolitinib, dramatic response to 5 mg, bid	Favorable developmental and respirator function at 24 mo3 years old at 2025	Current
F2	P2	Iran	c.443G>A p.R148Q	20 days	SeizureIntracranial calcificationEncephalitisAbnormal EEG	Draining adenitisFeverRespiratory failure	NA	No	Died at 8.5 years with influenza-induced respiratory failure	Current
F3	P3	Morocco	c.443G>A p.R148Q	15 days	SeizuresIntracranial calcifications	Adenitis (P. aeruginosa and K. pneumoniae)FeverPAPRespiratory failure skin ulcerationsCardiomegaly	Upregulated	No	Died at 5 mo from respiratory failure	Gruber et al. (2020) (10)
F4	P4	Pakistan	c.442C>T p.R148W	Neonatal	SeizureIntracranial calcificationHemorrhageWhite matter changesNeurodevelopmental delay	ThrombocytopeniaRecurrent HLH-like episodesThrombotic microangiopathyAcute kidney injuryProteinuria	Upregulated	Ruxolitinib 2.5 mg bid, clinical stabilization and improved ISG score	Died in immediate post-HSCT period with sepsis (20 mo)	Duncan et al. (2019) (9)
F4	P5	Pakistan	c.442C>T p.R148W	3 wk	Recurrent apneaIntracranial calcificationHemorrhageWhite matter changesCerebellar hypoplasiaBrainstem atrophyAbnormal EEG	Preterm birth	Upregulated	Ruxolitinib 1 mg bid, partial response, improved ISG score but persistent neurodevelopmental abnormalities	Diet at 3 mo with severe neurologic impairment	Duncan et al. (2019) (9)
F5	P6	Russia	c.442C>T p.R148W	Neonatal	SeizuresIntracranial calcificationsNeurodevelopmental delay	Adenitis after BCGFeverInterstitial pneumonia and bronchiolitis	NA	Tofacitinib, 20 mg per day with clinical and picture improvements	5 years old in 2021	Kozlova et al. (2021) (17)
F6	P7	Turkey	c.656C>T p.A219V	5 mo	Intracranial calcificationsCerebral atrophyDelayed motor and speechSpastic paraparesisStroke-like episodes of hemiparesisPontine hemorrhage dystonia	FeverAbnormal liver function	UpregulatedTested by qPCR and NanoString assays	No	Severe neurologic sequelae at 20 years	Zhu et al. (2023) (11)

HLH, hemophagocytic lymphohistiocytosis; mo, months; wk, week.