Table 1. Demographic, molecular, and... | Rockefeller University Press

Table 1.

Demographic, molecular, and clinical features of pRD patients

Patient #	Sex	Age at the time of the study	Gene defect	Allele 1; Allele 2	Infections	Immune dysregulation	Other complications	Treatment of immune dysregulation	BMT and outcome
P1	F	37 years	RAG1	p.C176F; p.C176F	Norovirus, URTI, LRTI, Pseudomonas pneumonia, bronchiectasis, Salmonella gastroenteritis, PJP	IBD, hypothyroidism	Hepatomegaly with bridging fibrosis and steatosis	Steroids	Yes, deceased
P2	M	16 mo	RAG1	p.A444V; p.V869F	URTI, LRTI, Aspergillus pneumonia, Stenotrophomonas maltophilia, Citrobacter freundii, adenovirus and norovirus gastroenteritis, Helicobacter pylori	VEOIBD, AIHA	Exocrine pancreatic insufficiency, cholestatic hepatitis	Steroids	Yes, A&W after 1 year
P3	M	8 years	RAG1	p.R112H; p.R112H	RTI	IBD		Ustekinumab	No, alive with IBD
P4	M	25 mo	RAG1	p.C176F; p.C176F	Recurrent bacterial and viral URTI, severe CMV viremia	VEOIBD with hematochezia and hematemesis		Tacrolimus	Yes, deceased
P5	M	11 years	RAG1	p.P152L; p.R973C	RTI, bronchiectasis	IBD, Evans syndrome		Steroids	Yes, A&W after 1 year
P6	M	32 years	RAG2	p.G451A; p.G451A	COVID-19, CMV, rubella		Liver fibrosis		No, deceased
P7	F	44 years	RAG1	p.R474C; p.R474C	Genital HPV and HSV, URTI, LRTI, bronchiectasis, Pseudomonas, pneumonia, MAC, Nocardia lung infection	Panarteritis nodosa, T1DM, hypothyroidism, pernicious anemia, arthritis, granulomas	Granulosa cell ovarian cancer	Etanercept, methotrexate	Yes, deceased
P8	F	6 years	RAG1	p.R112H; p.C328Y	Recurrent pneumonia, bronchiectasis, diarrhea	AIHA		Steroids	Yes, A&W after 5 years
P9	F	35 years	RAG1	p.W522C; p.R975Q	Recurrent HSV, URTI, LRTI, bronchiectasis, onychomycosis	Alopecia, vitiligo, arthritis, asthma	Ovarian insufficiency	Hydroxychloroquine	Yes, A&W after 3 years
P10	M	12 years	RAG1	p.Y562C; p.R841Q	URTI, LRTI, bronchiectasis, mastoiditis	AIHA, hypothyroidism, splenomegaly		Steroids	Yes, deceased
P11	M	3 years	RAG1	p.K86Vfs*33; p.C328Y	EBV viremia			Rituximab	Yes, deceased
P12	M	23 years	RAG1	p.R410W; p.R507Q	Warts, EBV viremia, URTI, LRTI	Vitiligo, alopecia, granulomas		Etanercept, adalimumab, hydroxychloroquine	Yes, A&W after 5 years
P13	M	39 years	RAG1	p.R108*; p.W522C	Warts, orolabial HSV, LRTI, bronchiectasis, MRSA, oral candidiasis	Alopecia, hypothyroidism, hypogonadism, granulomas		Steroids, MMF, rituximab	Yes, A&W after 6 years
P14	M	7 years	RAG1	p.G393V; p.G709A	URTI, LRTI, perianal abscess	Autoimmune hypothyroidism			Yes, A&W after 2 years
P15	F	12 years	RAG1	p.R404W; p.H747P	Herpes labialis, HSV keratitis, LRTI, septic shock, ecthyma gangrenosum	AIHA		MMF, rituximab, sirolimus	Yes, A&W after 5 years
P16	M	18 years	RAG1	p.K86Vfs*33; p.H612R	Chronic sinusitis, recurrent LRTI, bronchiectasis, COVID-19	AIHA, thyroiditis, vitiligo		Steroids	Yes, A&W after 21 mo

Patient #	Sex	Age at the time of the study	Gene defect	Allele 1; Allele 2	Infections	Immune dysregulation	Other complications	Treatment of immune dysregulation	BMT and outcome
P1	F	37 years	RAG1	p.C176F; p.C176F	Norovirus, URTI, LRTI, Pseudomonas pneumonia, bronchiectasis, Salmonella gastroenteritis, PJP	IBD, hypothyroidism	Hepatomegaly with bridging fibrosis and steatosis	Steroids	Yes, deceased
P2	M	16 mo	RAG1	p.A444V; p.V869F	URTI, LRTI, Aspergillus pneumonia, Stenotrophomonas maltophilia, Citrobacter freundii, adenovirus and norovirus gastroenteritis, Helicobacter pylori	VEOIBD, AIHA	Exocrine pancreatic insufficiency, cholestatic hepatitis	Steroids	Yes, A&W after 1 year
P3	M	8 years	RAG1	p.R112H; p.R112H	RTI	IBD		Ustekinumab	No, alive with IBD
P4	M	25 mo	RAG1	p.C176F; p.C176F	Recurrent bacterial and viral URTI, severe CMV viremia	VEOIBD with hematochezia and hematemesis		Tacrolimus	Yes, deceased
P5	M	11 years	RAG1	p.P152L; p.R973C	RTI, bronchiectasis	IBD, Evans syndrome		Steroids	Yes, A&W after 1 year
P6	M	32 years	RAG2	p.G451A; p.G451A	COVID-19, CMV, rubella		Liver fibrosis		No, deceased
P7	F	44 years	RAG1	p.R474C; p.R474C	Genital HPV and HSV, URTI, LRTI, bronchiectasis, Pseudomonas, pneumonia, MAC, Nocardia lung infection	Panarteritis nodosa, T1DM, hypothyroidism, pernicious anemia, arthritis, granulomas	Granulosa cell ovarian cancer	Etanercept, methotrexate	Yes, deceased
P8	F	6 years	RAG1	p.R112H; p.C328Y	Recurrent pneumonia, bronchiectasis, diarrhea	AIHA		Steroids	Yes, A&W after 5 years
P9	F	35 years	RAG1	p.W522C; p.R975Q	Recurrent HSV, URTI, LRTI, bronchiectasis, onychomycosis	Alopecia, vitiligo, arthritis, asthma	Ovarian insufficiency	Hydroxychloroquine	Yes, A&W after 3 years
P10	M	12 years	RAG1	p.Y562C; p.R841Q	URTI, LRTI, bronchiectasis, mastoiditis	AIHA, hypothyroidism, splenomegaly		Steroids	Yes, deceased
P11	M	3 years	RAG1	p.K86Vfs*33; p.C328Y	EBV viremia			Rituximab	Yes, deceased
P12	M	23 years	RAG1	p.R410W; p.R507Q	Warts, EBV viremia, URTI, LRTI	Vitiligo, alopecia, granulomas		Etanercept, adalimumab, hydroxychloroquine	Yes, A&W after 5 years
P13	M	39 years	RAG1	p.R108*; p.W522C	Warts, orolabial HSV, LRTI, bronchiectasis, MRSA, oral candidiasis	Alopecia, hypothyroidism, hypogonadism, granulomas		Steroids, MMF, rituximab	Yes, A&W after 6 years
P14	M	7 years	RAG1	p.G393V; p.G709A	URTI, LRTI, perianal abscess	Autoimmune hypothyroidism			Yes, A&W after 2 years
P15	F	12 years	RAG1	p.R404W; p.H747P	Herpes labialis, HSV keratitis, LRTI, septic shock, ecthyma gangrenosum	AIHA		MMF, rituximab, sirolimus	Yes, A&W after 5 years
P16	M	18 years	RAG1	p.K86Vfs*33; p.H612R	Chronic sinusitis, recurrent LRTI, bronchiectasis, COVID-19	AIHA, thyroiditis, vitiligo		Steroids	Yes, A&W after 21 mo

AIHA, autoimmune hemolytic anemia; A&W, alive and well; CMV, cytomegalovirus; EBV, Epstein-Barr virus; HPV, human papillomavirus; HSV, herpes simplex virus; IBD, inflammatory bowel disease; LRTI, lower respiratory tract infections; MAC, Mycobacterium avium complex; MMF, mycophenolate mofetil; MRSA, methicillin-resistant Staphylococcus aureus; PJP, Pneumocystis jirovecii pneumonia; RTI, respiratory tract infections; T1DM, type 1 diabetes mellitus; URTI, upper respiratory tract infections; VEOIBD, very early-onset inflammatory bowel disease.

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