Table 1 Clinical, immunologic, and... | American Society of Hematology

Table 1

Clinical, immunologic, and genetic features of the patients

Patient no.	Age at biopsy, mo	ALC, cells/μL	CD3⁺, cells/μL	CD4⁺, cells/μL	CD8⁺, cells/μL	CD19⁺, cells/μL	CD16⁺/CD56⁺, cells/μL	Clinical features	Mutation	Diagnosis
P1	10*†	400	< 1%	< 1%	< 1%	< 1%	< 1%	Pancytopenia, IUGR	AK2: c.400–401delCT/c. 614–615delGG	RD
P2	7.5*	729	114	0	40	721	16	PCP	IL2RG: IVS3+1G>C	SCIDX1
P3	2	860	35	13	21	750	9	Pneumonia, FTT	IL2RG: R258Q	SCIDX1
P4	10	2500	1600	1000	475	475	225	PCP	IL2RG: R222C	SCIDX1
P5	2*	323	45	6	39	26	13	Disseminated candidiasis	Unknown	ADA-SCID‡
P6	2	1090	3	0	0	676	391	Positive family history	CD3δ: R68X/R68X	CD3δ-SCID
P7	3	900	0	9	1	2	280	Positive family history	RAG2: g.4953delT/4953delT	T-B- SCID
P8	3*	8600	3698	946	1462	NA	3956	ED, CD, FTT, myocarditis, IP	RAG2: R229Q/R229Q	OS
P9	6.5	4591	2670	1669	125	1437	924	ED, FTT, CD, bronchiolitis, lymphadenopathy, hepatosplenomegaly	RMRP: allele 1: ins ACTCTGTGAATACTCT GTGAAGCTGA at −10 allele 2: C4T	OS

Patient no.	Age at biopsy, mo	ALC, cells/μL	CD3⁺, cells/μL	CD4⁺, cells/μL	CD8⁺, cells/μL	CD19⁺, cells/μL	CD16⁺/CD56⁺, cells/μL	Clinical features	Mutation	Diagnosis
P1	10*†	400	< 1%	< 1%	< 1%	< 1%	< 1%	Pancytopenia, IUGR	AK2: c.400–401delCT/c. 614–615delGG	RD
P2	7.5*	729	114	0	40	721	16	PCP	IL2RG: IVS3+1G>C	SCIDX1
P3	2	860	35	13	21	750	9	Pneumonia, FTT	IL2RG: R258Q	SCIDX1
P4	10	2500	1600	1000	475	475	225	PCP	IL2RG: R222C	SCIDX1
P5	2*	323	45	6	39	26	13	Disseminated candidiasis	Unknown	ADA-SCID‡
P6	2	1090	3	0	0	676	391	Positive family history	CD3δ: R68X/R68X	CD3δ-SCID
P7	3	900	0	9	1	2	280	Positive family history	RAG2: g.4953delT/4953delT	T-B- SCID
P8	3*	8600	3698	946	1462	NA	3956	ED, CD, FTT, myocarditis, IP	RAG2: R229Q/R229Q	OS
P9	6.5	4591	2670	1669	125	1437	924	ED, FTT, CD, bronchiolitis, lymphadenopathy, hepatosplenomegaly	RMRP: allele 1: ins ACTCTGTGAATACTCT GTGAAGCTGA at −10 allele 2: C4T	OS

NA indicates not available; IUGR, intrauterine growth retardation; PCP, Pneumocystis pneumonia; FTT, failure to thrive; ED, erythroderma; CD, chronic diarrhea; IP, interstitial pneumonia; RD, reticular dysgenesis; SCID, severe, combined immunodeficiency; ADA, adenosine deaminase; OS, Omenn syndrome; and RMRP, ribonuclease mitochondrial RNA-processing mutation.

Postmortem examination.

†

Died of disseminated adenovirus infection after T-cell-depleted haploidentical hematopoietic cell transplantation.

‡

Diagnosis of ADA deficiency was established based on lack of ADA activity in red blood cells.

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