Journal of Immunology Research / 2014 / Article / Tab 1

Research Article

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.


Type of immunodeficiency/molecular defects
 IL-2G gene mutations12
 JAK-3 gene mutations 11
 RAG1 and RAG2 mutations7
 Artemis gene mutations5
 IL-7R gene mutations3
 ADA deficiency66
 Reticular dysgenesis3
 Unknown molecular cause7
 Wiskott-Aldrich syndrome152
 Omenn's syndrome for RAG1, RAG2, and RMRP mutations12
 CD40L gene mutations3
 IPEX for FOXP3 mutations2
 FHL syndrome for PRF1 gene mutations2
 LAD-1 for ITGB2 gene mutations2
 Osteopetrosis for TINF2 gene mutations2
 CHH for RMRP gene mutation11
 Kostmann disease for HAX1 gene mutation1
 PNP deficiency1
 Winget helix deficiency for FOXN1 gene mutation1
Age at the transplant
Donor type
Dose of stem cells (106/Kg)
 Standard deviation14.87.1
Use of ATG or other mAbs1929
Acute GvHD
Chronic GvHD44
Follow-up duration*
 Between samples121415

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).

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