Table 1.

Clinical course and immune function

	Baseline			DLBCL diagnosis	Workup and HSCT	Day 100 post-HSCT			1 Year post-HSCT			2 Years post-HSCT
Clinical course	Multiple lung, sinus, and tonsil infections starting at age 1.5 y requiring frequent hospitalizations and antibiotics SCD with HPFH G6PD			Diagnosis: Chest CT with bilateral, extensive lung infiltrates Lung biopsy revealed a DLBCL, EBV+ 2A level lymph nodes, palatine tonsil, ovary involved CSF and bone marrow were negative	Workup (all negative): HIV PCR FISH for DiGeorge Chromosome breakage studies	Grade 2 skin GVHD treated with topical steroids only CMV viremia and possible pneumonia treated with IV immunoglobulin and ganciclovir			Pulmonary actinomyces treated with PCN Bronchiectasis			Clinically well Treatment of actinomyces continues
					Genetic workup (all negative): Rag 1/2 AT mutation analysis Nijmegen Artemis XLP XIAP
Immune function
T cell	Numbers (abs): CD3 = 353, CD4 = 118, CD8 = 163					Numbers (abs): CD3 = 223, CD4 = 128, CD8 = 92			Numbers (abs): CD3 = 1350, CD4 = 662, CD8 = 688			Numbers (abs): CD3 = 1089, CD4 = 633, CD8 = 428
	TREC (nl >3063): 289 copies/106 CD3 T cells					TREC (nl >3063): 500 copies/106 CD3 T cells			TREC (nl >3063): 3800 copies/106 CD3 T cells			TREC (nl >3063): 6010 copies/106 CD3 T cells
	Proliferation: Low response (<5% of control) to PHA, absent responses to candida and TT			Treatment: Ritux/pred × 1 cycle Ritux/pred/MTX/Doxo × 2 cycles Ritux/ARAC/MTX × 2 cycles Ritux/Cy/Vinc/pred/MTX/Doxo × 2 cycles Surgical resection of hilar lymph nodes and lung masses Surgical resection of ovary and peritoneal mass	WES Compound heterozygosity for the c.1796+2 T>C mutation and N176S variant in the CDH17 gene Heterozygous variant in the LIG1 gene Homozygous E7V mutation in the HBB gene Heterozygous S188F mutation in the G6PD gene	Proliferation: Normal response to PHA. PWM, candida, and TT not tested.			Proliferation: Normal response to PHA and PWM. Absent responses to candida and TT.			Proliferation: Normal response to PHA and PWM. Candida and TT not tested.
	TCR diversity: Normal
	Subsets (%):					Subsets (%):			Subsets (%):			Subsets (%):
	TNAIVE TCM TEM TEMRA	CD4 33.6 38.7 26.5 1.19	CD8 4.4 0.05 4.85 90.7			TNAIVE TCM TEM TEMRA	CD4 — — — —	CD8 2.85 2.5 66 28.7	TNAIVE TCM TEM TEMRA	CD4 — — — —	CD8 31.7 3.6 19.5 45.2	TNAIVE TCM TEM TEMRA	CD4 62.2 17.1 18.5 2.13	CD8 39.4 12.9 33.7 13.9
B cell	Numbers (abs): CD19 = 27					Numbers (abs): CD19 = 100			Numbers (abs): CD19 = 1058			Numbers (abs): CD19 = 756
	Immunoglobulins*: IgG 1270, IgA 199, IgM 524, IgE <2					Immunoglobulins†: IgG 494, IgA 27, IgM 328, IgE <2			Immunoglobulins: IgG 3180, IgA 89, IgM 136, IgE 4			Immunoglobulins: IgG 1310, IgA 123, IgM 124, IgE 3
	Vaccine titers: Tetanus Ab 0.06 (minimally protective), diphtheria Ab 0.06 (minimally protective), minimal response to all S.pneumo serotypes			Response: Mixed response to chemotherapy regimens NED at the time of HSCT	HSCT details: MSD HSCT (sibling had normal lymphocyte counts, no SCD or G6PD) Cy/TBI 1320cGy preparative regimen CSA/MTX for GVHD prophylaxis							Vaccine titers: Tetanus Ab 0.21 (protective), diphtheria Ab 0.21 (protective), protective response to 9 of 14 S.pneumo serotypes.
NK cell	Numbers (abs): CD16/56 = 526					Numbers (abs): CD16/56 = 72			Numbers (abs): CD16/56 = 185			Numbers (abs): CD16/56 = 120
	Activity: Normal					Activity: Normal			Activity: Decreased			Activity: Normal
Chimerism						100% Donor chimerism in peripheral blood and bone marrow			100% Donor chimerism in peripheral blood and bone marrow			100% Donor chimerism in peripheral blood and bone marrow

Ab, antibody; abs, absolute; ARAC, cytarabine; AT, ataxia telangiectasia; CMV, cytomegalovirus; CSA, cyclosporine; CSF, cerebrospinal fluid; CT, computed tomography; Cy, cytoxan; DLBCL, diffuse large B-cell lymphoma; Doxo, doxorubicin; EBV, Epstein-Barr virus; FISH, florescence in situ hybridization; G6PD, glucose 6-phosphate deficiency; GVHD, graft-versus-host disease; HBB, β hemoglobin; HPFH, hereditary persistence of fetal hemoglobin; MSD, matched sibling donor; MTX, methotrexate; NED, no evidence of disease; PCN, penicillin; PCR, polymerase chain reaction; PHA, phytohemagglutinin; pred, prednisone; PWM, pokeweed mitogen; Ritux, rituximab; SCD, sickle-cell disease; TBI, total body irradiation; T_CM, central memory T cells; T_EM, effector memory T cells; T_EMRA, effector memory T cells that express CD45RA; T_NAIVE, naïve T cells; TT, tetanus toxoid; Vinc, vincristine; WES, whole exome sequencing; XIAP, X-linked inhibitor of apoptosis; XLP, X-linked lymphoproliferative disorder.

^*Previous IV immunoglobulin replacement therapy is uncertain.

^†Last IV immunoglobulin infusion 1 month prior.