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

Table 1.

Clinical and genetic characteristics of the individuals in our cohort

Patient	Gender	Ethnic background	COPA mutation	STING haplotype status	Age at last evaluation (years)	Age at onset	Clinical presentation	Kidney function	Chest CT/CXR (age)	PFT (age)	AutoAbs^{^a}	IFN score (age)	Chronic immunosuppressive treatment
F1.PII.2	F	Caucasian	D243N	Non-HAQ	39	-	Asymptomatic	Normal	Normal CXR (36)	NA	Negative	Negative (30)	None
F1.PIII.1	F	Caucasian	D243N	Non-HAQ	19	2.5	ILD and arthralgias	Normal	Cystic lung disease	Lung restriction	ANA and RF	Positive	Steroids, MMF, rituximab, and bari
F2.PII.2	F	Caucasian	R233H	Non-HAQ	42	-	Asymptomatic	Normal	Normal CT (35)	Normal (35)	Negative	Minimally positive (35)	None
F2.PIII.1	F	Caucasian	R233H	Non-HAQ	19	2	Recurrent AH	Normal	Ground glass opacities and cysts	Lung restriction	ANA and RF	Positive	Cyclophosphamide, MMF, AZA, anti-IL1, and ruxo
F3.PII.4	M	Caucasian	R233H	HAQ	61	50	Membranous glomerulonephritis	Abnormal	Normal	Normal	NA^{^b}	Positive	HCQ
F3.PIII.2	F	Caucasian	R233H	HAQ	46	-	Asymptomatic	Normal	Normal CT (39)	Normal (39)	Negative	Negative (39)	None
F3.PIII.3	M	Caucasian	R233H	HAQ	50	-	Asymptomatic	NA	NA	NA	NA	NA	None
F3.PIII.5	F	Caucasian	R233H	Non-HAQ	25	10	AH, arthritis and glomerulonephritis	Kidney Tx	Pulmonary hemosiderosis	Normal	Negative	Positive	Steroids, cyclophosphamide, MMF, and kidney Tx
F3.PIII.7	M	Caucasian	R233H	Non-HAQ	30	-	Asymptomatic	NA	NA	NA	NA	NA	None
F3.PIV.1	M	Caucasian	R233H	Non-HAQ	21	1	AH and arthralgias	Normal	Alveolar condensation	NA	ANA, MPO	Positive	Steroids, MMF, AZA, rituximab, and ruxo
F3.PIV.2^{^c}	F	Caucasian	R233H	HAQ	18	-	Vitiligo	Normal	Normal CT (11)	Normal (11)	NA	NA	None
F4.PI.2	F	Caucasian	H199R	Non-HAQ	39	-	Asymptomatic	Normal	Normal CT (37)	Normal (37)	Negative	Minimally positive (36)	None
F4.PII.1	F	Caucasian	H199R	Non-HAQ	4	0	Prematurity and interstitial lung disease	Normal	Ground glass opacities and cysts	NA	NA	Positive	Steroids and ruxo
F5.PI.1	M	Caucasian	R281W	Non-HAQ	43	-	Asymptomatic	Normal	Normal CT (43)	Normal (43)	NA	NA	None
F5.PII.1	F	Caucasian	R281W	Non-HAQ	6.5	4	Polyarthritis	Normal	Normal	NA	ANA, anti-CCP, and RF	Positive	MTX and adalimumab
F6.P1	M	North African	R233H	Non-HAQ	31 (deceased)	7	ILD and polyarthritis	Normal	Honeycombing and ground glass opacities	Lung obstruction and restriction	ANA, anti-RNP, and ANCA	Positive	Steroids, HCQ, and lung Tx
F7.P1	F	Caucasian	Q285H	Non-HAQ	20	6	Polyarthritis	Normal	Normal	Normal	RF and anti-CCP	Positive	MTX and rituximab
F8.P1	F	Caucasian	E241D	Non-HAQ	59	14	ILD, polyarthritis, and chilblains	Normal	Honeycombing and ground glass opacities	Lung obstruction and restriction	ANA, MPO, and anti-RNP	Positive	MTX, leflunomide, AZA, rituximab, tocilizumab, MMF, HCQ, and bari
F9.P1	F	North African	V242G	Non-HAQ	31	8	ILD and polyarthritis	Normal	Cysts and ground glass opacities	Lung obstruction and restriction	ANA and MPO	Positive	Steroids, MTX, AZA, tocilizumab, infliximab, etanercept, and filgotinib
F10.P1	F	NA	R8281W and mosaic	Non-HAQ	19	4	Glomerulonephritis and ILD	Glomerulonephritis	Ground glass opacities	Isolated decrease of DLCO	ANA and MPO	Positive	Steroids, AZA, and rituximab
F11.P1	M	NA	R233H and mosaic	Non-HAQ	18	4	ILD and polyarthritis	Normal	Cysts and ground glass opacities	Lung obstruction and restriction	RF and anti-CCP	Positive	MTX, adalimumab, and bari
F12.P1	M	NA	E241K	Non-HAQ	1	0.1	ILD	Normal	Ground glass opacities	NA	MPO	Positive	Bari
F13.P1	F	North African	R233H	Non-HAQ	10	1	ILD and arthralgias	Normal	Honeycombing and cysts	Lung restriction	ANA	Positive	HCQ and ruxo

Patient	Gender	Ethnic background	COPA mutation	STING haplotype status	Age at last evaluation (years)	Age at onset	Clinical presentation	Kidney function	Chest CT/CXR (age)	PFT (age)	AutoAbs^a	IFN score (age)	Chronic immunosuppressive treatment
F1.PII.2	F	Caucasian	D243N	Non-HAQ	39	-	Asymptomatic	Normal	Normal CXR (36)	NA	Negative	Negative (30)	None
F1.PIII.1	F	Caucasian	D243N	Non-HAQ	19	2.5	ILD and arthralgias	Normal	Cystic lung disease	Lung restriction	ANA and RF	Positive	Steroids, MMF, rituximab, and bari
F2.PII.2	F	Caucasian	R233H	Non-HAQ	42	-	Asymptomatic	Normal	Normal CT (35)	Normal (35)	Negative	Minimally positive (35)	None
F2.PIII.1	F	Caucasian	R233H	Non-HAQ	19	2	Recurrent AH	Normal	Ground glass opacities and cysts	Lung restriction	ANA and RF	Positive	Cyclophosphamide, MMF, AZA, anti-IL1, and ruxo
F3.PII.4	M	Caucasian	R233H	HAQ	61	50	Membranous glomerulonephritis	Abnormal	Normal	Normal	NA^b	Positive	HCQ
F3.PIII.2	F	Caucasian	R233H	HAQ	46	-	Asymptomatic	Normal	Normal CT (39)	Normal (39)	Negative	Negative (39)	None
F3.PIII.3	M	Caucasian	R233H	HAQ	50	-	Asymptomatic	NA	NA	NA	NA	NA	None
F3.PIII.5	F	Caucasian	R233H	Non-HAQ	25	10	AH, arthritis and glomerulonephritis	Kidney Tx	Pulmonary hemosiderosis	Normal	Negative	Positive	Steroids, cyclophosphamide, MMF, and kidney Tx
F3.PIII.7	M	Caucasian	R233H	Non-HAQ	30	-	Asymptomatic	NA	NA	NA	NA	NA	None
F3.PIV.1	M	Caucasian	R233H	Non-HAQ	21	1	AH and arthralgias	Normal	Alveolar condensation	NA	ANA, MPO	Positive	Steroids, MMF, AZA, rituximab, and ruxo
F3.PIV.2^c	F	Caucasian	R233H	HAQ	18	-	Vitiligo	Normal	Normal CT (11)	Normal (11)	NA	NA	None
F4.PI.2	F	Caucasian	H199R	Non-HAQ	39	-	Asymptomatic	Normal	Normal CT (37)	Normal (37)	Negative	Minimally positive (36)	None
F4.PII.1	F	Caucasian	H199R	Non-HAQ	4	0	Prematurity and interstitial lung disease	Normal	Ground glass opacities and cysts	NA	NA	Positive	Steroids and ruxo
F5.PI.1	M	Caucasian	R281W	Non-HAQ	43	-	Asymptomatic	Normal	Normal CT (43)	Normal (43)	NA	NA	None
F5.PII.1	F	Caucasian	R281W	Non-HAQ	6.5	4	Polyarthritis	Normal	Normal	NA	ANA, anti-CCP, and RF	Positive	MTX and adalimumab
F6.P1	M	North African	R233H	Non-HAQ	31 (deceased)	7	ILD and polyarthritis	Normal	Honeycombing and ground glass opacities	Lung obstruction and restriction	ANA, anti-RNP, and ANCA	Positive	Steroids, HCQ, and lung Tx
F7.P1	F	Caucasian	Q285H	Non-HAQ	20	6	Polyarthritis	Normal	Normal	Normal	RF and anti-CCP	Positive	MTX and rituximab
F8.P1	F	Caucasian	E241D	Non-HAQ	59	14	ILD, polyarthritis, and chilblains	Normal	Honeycombing and ground glass opacities	Lung obstruction and restriction	ANA, MPO, and anti-RNP	Positive	MTX, leflunomide, AZA, rituximab, tocilizumab, MMF, HCQ, and bari
F9.P1	F	North African	V242G	Non-HAQ	31	8	ILD and polyarthritis	Normal	Cysts and ground glass opacities	Lung obstruction and restriction	ANA and MPO	Positive	Steroids, MTX, AZA, tocilizumab, infliximab, etanercept, and filgotinib
F10.P1	F	NA	R8281W and mosaic	Non-HAQ	19	4	Glomerulonephritis and ILD	Glomerulonephritis	Ground glass opacities	Isolated decrease of DLCO	ANA and MPO	Positive	Steroids, AZA, and rituximab
F11.P1	M	NA	R233H and mosaic	Non-HAQ	18	4	ILD and polyarthritis	Normal	Cysts and ground glass opacities	Lung obstruction and restriction	RF and anti-CCP	Positive	MTX, adalimumab, and bari
F12.P1	M	NA	E241K	Non-HAQ	1	0.1	ILD	Normal	Ground glass opacities	NA	MPO	Positive	Bari
F13.P1	F	North African	R233H	Non-HAQ	10	1	ILD and arthralgias	Normal	Honeycombing and cysts	Lung restriction	ANA	Positive	HCQ and ruxo

Asymptomatic patients are highlighted in italicized font.

AH, alveolar hemorrhage; ANA, antinuclear antibodies; AZA, azathioprine; Bari, baricitinib; CCP, cyclic citrullinated peptide; F, female; HCQ, hydroxychloroquine; IL1, interleukin-1; ILD, interstitial lung disease; M, male; MMF, mycophenolate mofetil; MPO, myeloperoxidase; MTX, methotrexate; NA, not assessed; PFT, pulmonary function test; RF, rheumatoid factor; RNP, ribonucleoprotein; Ruxo, ruxolitinib; Tx, transplantation; ACNA, anti-neutrophil cytoplasmic antibody; CXR, chest X-ray; DLCO, diffusing capacity of the lungs for carbon monoxide.

AutoAbs refer to ANA, RF, anti-CCP, and ANCA.

F3.PII.4 was only tested for anti-PLA2R antibodies that were negative.

The disease status of F3.PIV.2, manifesting vitiligo in the absence of other disease features at age 18 years, was considered uncertain and was not included in our further analysis.

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