Table 2. Summary of the clinical... | Rockefeller University Press

Table 2.

Summary of the clinical characteristics of reported STAT2-deficient patients

Patient	Genetic defect	Birth year	Sex	Symptom onset age	Bacterial infections	Viral infections	Cytopenia	Other	LAV	Complications after LAV	Outcome	Current treatment	Reference
P1	K490Qfs*41	1989	F	22 days	Recurrent infections	Viral meningitis	No	–	MMR	Hepatosplenomegaly, adenomegalies, and oral candida	Alive	Cotrimoxazole Itraconazole	Current report
P2	K490Qfs*41	1992	M	4 mo	S. epidermidis	Chickenpox	No	–	MMR	Fever, rash, conjunctivitis, seromucous rhinitis, cheilitis, pharyngitis, and edema (atypical Kawasaki disease)	Alive	Cotrimoxazole	Current report
P3	c.941+1G>T	2022	M	1 year	No	No	No	–	MMR	HLH	Alive	IVIG	Current report
P4	c.381+5G>C	1982	F	NA	No	NA	No	–	NA (positive serological tests)	NA	Alive	None	(17)
P5	c.381+5G>C	2006	F	2 years	No	Influenza A pneumonia, HSV stomatitis, asymptomatic EBV, and mild SARS-CoV-2	No	–	MMR	Disseminated measles with pneumonia	Alive	Acyclovir	(17)
P6	c.381+5G>C	2007	M	2 mo	No	NA	No	–	No	–	Died at 2 mo	–	(17)
P7	c.381+5G>C	2006	F	1 year	No	Several URTI, chickenpox	No	–	MMR	Prolonged fever, rash, profound sensorineural hearing loss	Alive	Acyclovir	(17)
P8	c.381+5G>C	2008	F	NA	No	Several URTI, chickenpox	No	Asthma, urticaria	No	–	Alive	Acyclovir cetirizine	(17)
P9	c.381+5G>C	2014	F	NA	No	Several URTI	No	Atypical Kawasaki disease	No	–	Alive	Acyclovir	(16)
P10	C612X	2009	M	1 year	No	NA	No	–	MMR	Disseminated measles with systemic inflammation, atypical Kawasaki disease, and meningoencephalitis	Alive	SCIG levetiracetam, topiramate, lacosamide, and omeprazole	(24)
P11	C612X	2010	F	1 year	No	No	Yes	–	MMR	Disseminated measles with systemic inflammation, cytopenia, coagulopathy, and sepsis-like	Alive	SCIG	(24)
P12	R510X/c.1576G>A	1995	M	3 mo	Otitis, pneumonia, mycoplasma pneumonia	Recurrent severe viral infections, RSV, adenovirus, and enterovirus	Yes	–	MMR	Disseminated measles with systemic inflammation and atypical Kawasaki disease	Died at 7 years	–	(25)
P13	R510X/c.1576G>A	2004	F	6 mo	Otitis, pneumonia	Recurrent viral infections, influenza A pneumonia, severe chickenpox, severe EBV, enterovirus B virus meningitis, and mild SARS-CoV-2	Yes		MMR	Disseminated measles with systemic inflammation, pneumonia, and hepatitis	Alive	None	(25)
P14	V628fs*14	2002	F	1 year	Otitis	Enterovirus B meningitis, severe SARS-CoV-2, and pneumonia	No		MMR	Disseminated measles with systemic inflammation, atypical Kawasaki disease, and meningitis	Alive	Cetirizine, inhaled fluticasone-salmeterol	(16)
P15	V628fs*14	2012	F	9 mo	No	RSV, rotavirus, influenza A pneumonia, and enterovirus enteritis	No		MMR	MA	Died at 5 years	–	(16)
P16	R330X	1998	F	3 mo	Pneumonia, urinary tract infections	Recurrent URTI	No	Bronchitis, hypo-IgA	MMR, BCG	No	Alive	None	(16)
P17	R330X	2015	F	5 mo	Pneumonia	Chickenpox	No	–	MMR, BCG	No	Alive	IVIG, cotrimoxazole	(16)
P18	Sibling to P16 and P17	1996	F	2 years	Pneumonia	Severe HSV stomatitis and encephalitis	NA	–	MMR, BCG	NA	Died at 2 years	–	(16)
P19	Q174X	2014	M	9 mo	Bacterial pneumonia during ARDS due to influenza pneumonia	Influenza A with ARDS, enterovirus, HSV stomatitis, and keratitis	No	Sensorineural hearing loss	MMR	Mumps, systemic inflammation, atypical Kawasaki disease, and sensorineural hearing loss	Died at 5 years	–	(16)
P20	Sibling to P19	2008	F	1 year	Recurrent infections	Influenza A pneumonia	NA	–	MMR, VZV	NA	Died at 2 years	–	(16)
P21	Q274X	2016	F	7 mo	Pneumonia	Asymptomatic EBV	No	–	Measles	Clinical measles	Alive	IVIG	(16)
P22	Sibling to P22	NA	M	9 mo	–	–	NA	–	Measles, MMR	Prolonged fever, clinical mumps	Died at 5 years	–	(16)
P23	R667X	2017	F	9 mo	Recurrent otitis and pneumonia	Influenza A with ARDS, several URTI, coronavirus HKU1, rhinovirus, human metapneumovirus, HHV6, parainfluenza, and mild SARS-CoV-2	Yes (during HLH episode)	–	MMR, VZV	Disseminated VZV, systemic inflammation, and HHV6-triggered HLH	Alive	None	(21)
P24	c.1209+1delG	2017	M	1 year	Recurrent otitis	Norovirus, enterovirus, HHV6, CMV, and influenza A	Yes (during HLH episode)	–	MMR, VZV	Systemic inflammation, HLH, and mumps meningitis	Alive	IVIG	(26)
P25	DelChr12:56360796-56352109/DelChr12:56355504-56348082	2009	F	Birth	Recurrent pneumonia	EBV, asymptomatic SARS-CoV-2, several URTI	No	Oral ulcers, appendicitis	No	–	Alive	IVIG, cotrimoxazole	(16)
P26	Sibling to P25	2004	M	4 mo	–	Severe HSV stomatitis, recurrent severe URTI	NA	–	No	–	Died at 10 mo	–	(16)
P27	c.633+2T>C	NA	F	2 mo	–	URTI, MIS-C associated to SARS-CoV-2 infection, rhinovirus	Yes	MIS-C	MMR	MMR-associated HLH, febrile illness with seizure	Alive	Anakinra	(27)
P28	Q685X S613F	NA	M	2 years	–	Recurrent severe influenza pneumonia, critical SARS-CoV-2	NA	–	MMR	Aseptic meningitis and Kawasaki disease after MMR vaccination	Alive	NA	(22)

Patient	Genetic defect	Birth year	Sex	Symptom onset age	Bacterial infections	Viral infections	Cytopenia	Other	LAV	Complications after LAV	Outcome	Current treatment	Reference
P1	K490Qfs*41	1989	F	22 days	Recurrent infections	Viral meningitis	No	–	MMR	Hepatosplenomegaly, adenomegalies, and oral candida	Alive	Cotrimoxazole Itraconazole	Current report
P2	K490Qfs*41	1992	M	4 mo	S. epidermidis	Chickenpox	No	–	MMR	Fever, rash, conjunctivitis, seromucous rhinitis, cheilitis, pharyngitis, and edema (atypical Kawasaki disease)	Alive	Cotrimoxazole	Current report
P3	c.941+1G>T	2022	M	1 year	No	No	No	–	MMR	HLH	Alive	IVIG	Current report
P4	c.381+5G>C	1982	F	NA	No	NA	No	–	NA (positive serological tests)	NA	Alive	None	(17)
P5	c.381+5G>C	2006	F	2 years	No	Influenza A pneumonia, HSV stomatitis, asymptomatic EBV, and mild SARS-CoV-2	No	–	MMR	Disseminated measles with pneumonia	Alive	Acyclovir	(17)
P6	c.381+5G>C	2007	M	2 mo	No	NA	No	–	No	–	Died at 2 mo	–	(17)
P7	c.381+5G>C	2006	F	1 year	No	Several URTI, chickenpox	No	–	MMR	Prolonged fever, rash, profound sensorineural hearing loss	Alive	Acyclovir	(17)
P8	c.381+5G>C	2008	F	NA	No	Several URTI, chickenpox	No	Asthma, urticaria	No	–	Alive	Acyclovir cetirizine	(17)
P9	c.381+5G>C	2014	F	NA	No	Several URTI	No	Atypical Kawasaki disease	No	–	Alive	Acyclovir	(16)
P10	C612X	2009	M	1 year	No	NA	No	–	MMR	Disseminated measles with systemic inflammation, atypical Kawasaki disease, and meningoencephalitis	Alive	SCIG levetiracetam, topiramate, lacosamide, and omeprazole	(24)
P11	C612X	2010	F	1 year	No	No	Yes	–	MMR	Disseminated measles with systemic inflammation, cytopenia, coagulopathy, and sepsis-like	Alive	SCIG	(24)
P12	R510X/c.1576G>A	1995	M	3 mo	Otitis, pneumonia, mycoplasma pneumonia	Recurrent severe viral infections, RSV, adenovirus, and enterovirus	Yes	–	MMR	Disseminated measles with systemic inflammation and atypical Kawasaki disease	Died at 7 years	–	(25)
P13	R510X/c.1576G>A	2004	F	6 mo	Otitis, pneumonia	Recurrent viral infections, influenza A pneumonia, severe chickenpox, severe EBV, enterovirus B virus meningitis, and mild SARS-CoV-2	Yes		MMR	Disseminated measles with systemic inflammation, pneumonia, and hepatitis	Alive	None	(25)
P14	V628fs*14	2002	F	1 year	Otitis	Enterovirus B meningitis, severe SARS-CoV-2, and pneumonia	No		MMR	Disseminated measles with systemic inflammation, atypical Kawasaki disease, and meningitis	Alive	Cetirizine, inhaled fluticasone-salmeterol	(16)
P15	V628fs*14	2012	F	9 mo	No	RSV, rotavirus, influenza A pneumonia, and enterovirus enteritis	No		MMR	MA	Died at 5 years	–	(16)
P16	R330X	1998	F	3 mo	Pneumonia, urinary tract infections	Recurrent URTI	No	Bronchitis, hypo-IgA	MMR, BCG	No	Alive	None	(16)
P17	R330X	2015	F	5 mo	Pneumonia	Chickenpox	No	–	MMR, BCG	No	Alive	IVIG, cotrimoxazole	(16)
P18	Sibling to P16 and P17	1996	F	2 years	Pneumonia	Severe HSV stomatitis and encephalitis	NA	–	MMR, BCG	NA	Died at 2 years	–	(16)
P19	Q174X	2014	M	9 mo	Bacterial pneumonia during ARDS due to influenza pneumonia	Influenza A with ARDS, enterovirus, HSV stomatitis, and keratitis	No	Sensorineural hearing loss	MMR	Mumps, systemic inflammation, atypical Kawasaki disease, and sensorineural hearing loss	Died at 5 years	–	(16)
P20	Sibling to P19	2008	F	1 year	Recurrent infections	Influenza A pneumonia	NA	–	MMR, VZV	NA	Died at 2 years	–	(16)
P21	Q274X	2016	F	7 mo	Pneumonia	Asymptomatic EBV	No	–	Measles	Clinical measles	Alive	IVIG	(16)
P22	Sibling to P22	NA	M	9 mo	–	–	NA	–	Measles, MMR	Prolonged fever, clinical mumps	Died at 5 years	–	(16)
P23	R667X	2017	F	9 mo	Recurrent otitis and pneumonia	Influenza A with ARDS, several URTI, coronavirus HKU1, rhinovirus, human metapneumovirus, HHV6, parainfluenza, and mild SARS-CoV-2	Yes (during HLH episode)	–	MMR, VZV	Disseminated VZV, systemic inflammation, and HHV6-triggered HLH	Alive	None	(21)
P24	c.1209+1delG	2017	M	1 year	Recurrent otitis	Norovirus, enterovirus, HHV6, CMV, and influenza A	Yes (during HLH episode)	–	MMR, VZV	Systemic inflammation, HLH, and mumps meningitis	Alive	IVIG	(26)
P25	DelChr12:56360796-56352109/DelChr12:56355504-56348082	2009	F	Birth	Recurrent pneumonia	EBV, asymptomatic SARS-CoV-2, several URTI	No	Oral ulcers, appendicitis	No	–	Alive	IVIG, cotrimoxazole	(16)
P26	Sibling to P25	2004	M	4 mo	–	Severe HSV stomatitis, recurrent severe URTI	NA	–	No	–	Died at 10 mo	–	(16)
P27	c.633+2T>C	NA	F	2 mo	–	URTI, MIS-C associated to SARS-CoV-2 infection, rhinovirus	Yes	MIS-C	MMR	MMR-associated HLH, febrile illness with seizure	Alive	Anakinra	(27)
P28	Q685XS613F	NA	M	2 years	–	Recurrent severe influenza pneumonia, critical SARS-CoV-2	NA	–	MMR	Aseptic meningitis and Kawasaki disease after MMR vaccination	Alive	NA	(22)

ARDS, acute respiratory distress syndrome; BCG, Bacille Calmette-Guerin; CMV, cytomegalovirus; EBV, Epstein-Barr virus; F, female; HHV6, human herpesvirus 6; HSV, herpes simplex virus; M, male; MIS-C, multi-inflammatory syndrome in children; mo, months; RSV, respiratory syncytial virus; URTI, upper respiratory tract infections; VZV, varicella-zoster.

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