Table 1. Demographics of the patients... | American Society of Hematology

Table 1.

Demographics of the patients with CGD

CGD	Age at the time of the first exp.	Sex	Mutation	History of inflammatory/infectious complications	Active infection or inflammation event at the time of exp.? (if so which exp series)	Autoimmune phenotype?	IFN-γ therapy at the time of exp.?	Other medications	Series 1		Series 2		Series 3	Series 4		Series 5
CGD	Age at the time of the first exp.	Sex	Mutation	History of inflammatory/infectious complications		Autoimmune phenotype?	IFN-γ therapy at the time of exp.?	Other medications	ELISA mono and neutro, proteome mono and neutro, SH mono	ATAC-seq and bulk RNA-seq mono	Training mono, mtROS neutro, SH neutro, metabolites neutro and mono	SH mono ± metformin	SH mono and training mono ± r-IFN-γ	SH mono ± r-IFN-γ, ELISA mono ± r-IFN-γ	scRNA-seq (data set 2) ± IFN-γ ex vivo	SH mono and PMN ± r-IFN-γ; ELISA PMN and trained mono ± r-IFN-γ	scRNA-seq (data set 3) in vivo IFN-γ treatment and ± IFN-γ ex vivo
A	39	M	AR p47^phox (NCF1) - homozygous 2-bp deletion	Invasive aspergillosis, IBD	No	No	No	Posaconazole, cotrimoxazole	Yes	Yes	Yes	No	Yes	No	No	Yes (± IFN-γ in vitro)	Yes ± IFN-γ ex vivo TruCulture
B	36	M	AR p47^phox (NCF1) - homozygous 2-bp deletion	Aspergillus and non-aspergillus-related inflammatory events (eg, liver abscess, acne)	Series 1: S aureus liver abscess being treated with flucloxacillin.	No	No	Posaconazole, cotrimoxazole	Yes	Yes	Yes	No	No	No	No	No	No
C	48	M	X-linked gp91^phox (CYBB) -intron 7 substitution at position +2 T>A, causing splicing defect, missing exon 7 in encoding mRNA	IBD, aphthous lesions	No	No	No	Posaconazole, cotrimoxazole, prednisolone	Yes	Yes	No	No	No	Yes	No	No	No
D	18	M	AR p47^phox (NCF1) - homozygous 2-bp deletion	Chilblain lupus, bacterial recurrent respiratory infections	No	Yes	No	Posaconazole, cotrimoxazole	Yes	Yes	Yes	Yes	Yes	Yes (only ELISA mono ± r-IFN-γ)	Yes (± IFN-γ ex vivo TruCulture)	No	No
E	18	M	AR p47^phox (NCF1) - homozygous 2-bp deletion	IBD, anti-dsDNA+, lymphadenitis	No	Yes	No	Posaconazole, cotrimoxazole, ustekinumab	Yes	Yes	Yes	No	No	Yes	No	No	No
F	27	F	AR p67^phox (NCF2) -C.879 C>G (p. (Tyr293∗)	Chronic gingivitis, photocontact dermatitis	Series 4: pregnancy	No	No	Posaconazole, flucloxacillin	No	No	Yes	Yes	No	Yes	Yes (± IFN-γ ex vivoTruCulture)	No	No
G	28	M	AR p47^phox (NCF1) - homozygous 2-bp deletion	Invasive aspergillosis, hidradenitis	No	No	No	Posaconazole, cotrimoxazole	No	No	No	No	No	Yes	Yes (no + IFN-γ TruCulture)	No	No
H	30	M	X-linked gp91^phox (CYBB) -intronic insertion in intron 1 (extra STOP codon)	Invasive aspergillosis, IBD	No	No	No	Posaconazole, cotrimoxazole	No	No	No	No	No	Yes	Yes (± IFN-γ TruCulture)	No	No
I	42	M	X-linked gp91^phox (CYBB) -intronic insertion in intron 1 (extra STOP codon)	Invasive aspergillosis, bacterial and fungal recurrent respiratory infections	No	No	Yes	Itraconazole, cotrimoxazole	No	No	No	No	No	No	No	Yes ± IFN-γ ex vivo and in vivo before and after IFN-γ immunotherapy	Yes (before and after IFN-γ immunotherapy)

CGD	Age at the time of the first exp.	Sex	Mutation	History of inflammatory/infectious complications	Active infection or inflammation event at the time of exp.? (if so which exp series)	Autoimmune phenotype?	IFN-γ therapy at the time of exp.?	Other medications	Series 1		Series 2		Series 3	Series 4		Series 5
CGD	Age at the time of the first exp.	Sex	Mutation	History of inflammatory/infectious complications		Autoimmune phenotype?	IFN-γ therapy at the time of exp.?	Other medications	ELISA mono and neutro, proteome mono and neutro, SH mono	ATAC-seq and bulk RNA-seq mono	Training mono, mtROS neutro, SH neutro, metabolites neutro and mono	SH mono ± metformin	SH mono and training mono ± r-IFN-γ	SH mono ± r-IFN-γ, ELISA mono ± r-IFN-γ	scRNA-seq (data set 2) ± IFN-γ ex vivo	SH mono and PMN ± r-IFN-γ; ELISA PMN and trained mono ± r-IFN-γ	scRNA-seq (data set 3) in vivo IFN-γ treatment and ± IFN-γ ex vivo
A	39	M	AR p47^phox (NCF1) - homozygous 2-bp deletion	Invasive aspergillosis, IBD	No	No	No	Posaconazole, cotrimoxazole	Yes	Yes	Yes	No	Yes	No	No	Yes (± IFN-γ in vitro)	Yes ± IFN-γ ex vivo TruCulture
B	36	M	AR p47^phox (NCF1) - homozygous 2-bp deletion	Aspergillus and non-aspergillus-related inflammatory events (eg, liver abscess, acne)	Series 1: S aureus liver abscess being treated with flucloxacillin.	No	No	Posaconazole, cotrimoxazole	Yes	Yes	Yes	No	No	No	No	No	No
C	48	M	X-linked gp91^phox (CYBB) -intron 7 substitution at position +2 T>A, causing splicing defect, missing exon 7 in encoding mRNA	IBD, aphthous lesions	No	No	No	Posaconazole, cotrimoxazole, prednisolone	Yes	Yes	No	No	No	Yes	No	No	No
D	18	M	AR p47^phox (NCF1) - homozygous 2-bp deletion	Chilblain lupus, bacterial recurrent respiratory infections	No	Yes	No	Posaconazole, cotrimoxazole	Yes	Yes	Yes	Yes	Yes	Yes (only ELISA mono ± r-IFN-γ)	Yes (± IFN-γ ex vivo TruCulture)	No	No
E	18	M	AR p47^phox (NCF1) - homozygous 2-bp deletion	IBD, anti-dsDNA+, lymphadenitis	No	Yes	No	Posaconazole, cotrimoxazole, ustekinumab	Yes	Yes	Yes	No	No	Yes	No	No	No
F	27	F	AR p67^phox (NCF2) -C.879 C>G (p. (Tyr293∗)	Chronic gingivitis, photocontact dermatitis	Series 4: pregnancy	No	No	Posaconazole, flucloxacillin	No	No	Yes	Yes	No	Yes	Yes (± IFN-γ ex vivoTruCulture)	No	No
G	28	M	AR p47^phox (NCF1) - homozygous 2-bp deletion	Invasive aspergillosis, hidradenitis	No	No	No	Posaconazole, cotrimoxazole	No	No	No	No	No	Yes	Yes (no + IFN-γ TruCulture)	No	No
H	30	M	X-linked gp91^phox (CYBB) -intronic insertion in intron 1 (extra STOP codon)	Invasive aspergillosis, IBD	No	No	No	Posaconazole, cotrimoxazole	No	No	No	No	No	Yes	Yes (± IFN-γ TruCulture)	No	No
I	42	M	X-linked gp91^phox (CYBB) -intronic insertion in intron 1 (extra STOP codon)	Invasive aspergillosis, bacterial and fungal recurrent respiratory infections	No	No	Yes	Itraconazole, cotrimoxazole	No	No	No	No	No	No	No	Yes ± IFN-γ ex vivo and in vivo before and after IFN-γ immunotherapy	Yes (before and after IFN-γ immunotherapy)

ELISA, enzyme-linked immunosorbent assay; F, female; IBD, inflammatory bowel disease; M, male; mtROS, mitochondrial ROS; PMN, polymorphonuclear neutrophils; SH, Seahorse.