Long-Lasting Production of New T and B Cells and T-Cell Repertoire Diversity in Patients with Primary Immunodeficiency Who Had Undergone Stem Cell Transplantation: A Single-Centre Experience

Table 1

Characteristics of the patients included in the study and of the transplants.

	HSCT-		No-
	SCID	PID	HSCT
Number	54	48	22
Gender
Male/female	31/23	35/13	18/4
Type of immunodeficiency/molecular defects
IL-2G gene mutations	12
JAK-3 gene mutations	11
RAG1 and RAG2 mutations	7
Artemis gene mutations	5
IL-7R gene mutations	3
ADA deficiency	6		6
Reticular dysgenesis	3
Unknown molecular cause	7
Wiskott-Aldrich syndrome		15	2
Omenn's syndrome for RAG1, RAG2, and RMRP mutations		12
CD40L gene mutations		3
IPEX for FOXP3 mutations		2
FHL syndrome for PRF1 gene mutations		2
LAD-1 for ITGB2 gene mutations		2
Osteopetrosis for TINF2 gene mutations		2
CHH for RMRP gene mutation		1	1
Kostmann disease for HAX1 gene mutation		1
PNP deficiency		1
Winget helix deficiency for FOXN1 gene mutation		1
CID		6	4
XLT			8
XLA			1
Age at the transplant
Mean	10	25	—
Donor type
MSD	12	10	—
MMRD	22	8	—
MUD	20	30	—
T-depletion	23	7	—
Dose of stem cells (10^6/Kg)
Mean	15.9	9.8	—
Standard deviation	14.8	7.1	—
Conditioning
None	11	3	—
Nonablative	5	1	—
Ablative	38	44	—
Use of ATG or other mAbs	19	29	—
Acute GvHD
I	17	16	—
II	5	14	—
III-IV	7	2	—
Chronic GvHD	4	4	—
Follow-up duration^*
Total	95	97	104
Between samples	12	14	15

ADA: adenosine deaminase; Artemis: DNA cross-link repair 1C gene; ATG: rabbit thymoglobulin; CD40 L: CD40 ligand; CHH: cartilage hair hypoplasia; CID: combined immunodeficiency; FHL: familial hemophagocytic lymphohistiocytosis; FOXN1: forkhead box N1 transcription factor; FOXP3: forkhead box P3; GvHD: graft-versus-host disease; HSCT: hematopoietic stem cell transplantation; IL2RG: interleukin 2 receptor, gamma gene; IL7R: interleukin 7 receptor; IPEX: immune dysregulation, polyendocrinopathy, and enteropathy; ITGB2: integrin beta 2; JAK3: Janus kinase 3; LAD-1: leukocyte adhesion deficiency type 1; mAbs: monoclonal antibodies; MMRD: mismatched related family donor; MSD: HLA-matched sibling donor; MUD: unrelated donor; PID: primary immunodeficiency; PRF: perforin 1 (pore forming protein); RAG: recombination activating genes; RMRP: RNA component of mitochondrial RNA processing endoribonuclease; PNP: purine nucleoside phosphorylase; SCID: severe combined immunodeficiency; TINF2: TRF1-interacting nuclear factor 2; XLA: X-linked agammaglobulinemia; XLT: X-linked thrombocytopenia. ^*Mean (months).