The Reconstitution of T-cells after Allogeneic Hematopoietic Stem Cell Transplant in a Pediatric Patient with Congenital Amegakaryocytic Thrombocytopenia (CAMT)
Copyright© Bentham Science Publishers; For any queries, please email at epubbenthamscience.net..
BACKGROUND: Congenital amegakaryocytic thrombocytopenia (CAMT) is a bone marrow failure syndrome with autosomal recessive inheritance characterized by the lack of megakaryocytes and thrombocytopenia. The cause of the disease is a mutation in the c-Mpl gene, which encodes the thrombopoietin (TPO) receptor. The main treatment for this genetic disorder is an allogeneic hematopoietic stem cell transplant (allo-HSCT). However, transplant-related mortality, development of acute and chronic graft-versushost disease (GvHD), and susceptibility to opportunistic infections are major barriers to transplantation. Delay in the reconstitution of T cells and imbalance in the regeneration of distinct functional CD4 and CD8 T-cell subsets mainly affect post-transplant complications. We report a case of CAMT, who developed acute GvHD but had no signs and symptoms of chronic GvHD following allo-HSCT.
CASE PRESENTATION: At the age of four, she presented with petechiae and purpura. In laboratory investigations, pancytopenia without organomegaly, and cellularity less than 5% in bone marrow biopsy, were observed. A primary diagnosis of idiopathic aplastic anemia was made, and she was treated with prednisolone, cyclosporine, and anti-thymocyte globulin (ATG), which did not respond. Genetic analysis revealed the mutation c.1481T>G (p. L494W) in exon 10 of the c-Mpl gene, and the diagnosis of CAMT was confirmed. The patient underwent allo-HSCT from a healthy sibling donor. Alloimmunization reactions and immune disorders were present due to long-term treatment with immunosuppressive medications and repeated blood and platelet transfusions. Hence, the regeneration of T-lymphocytes after allo-HSCT was evaluated.
CONCLUSION: Successful treatment of acute GvHD prevented advancing the condition to chronic GvHD, and this was accompanied by delayed T-cell reconstitution through an increase in Treg:Tcons ratio.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2024 |
|---|---|
| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:24 |
|---|---|
| Enthalten in: |
Endocrine, metabolic & immune disorders drug targets - 24(2024), 2 vom: 01., Seite 265-272 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Bayegi, Shideh Namazi [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
Allogeneic HSCT |
|---|
| Anmerkungen: |
Date Completed 18.04.2024 Date Revised 18.04.2024 published: Print Citation Status MEDLINE |
|---|
| doi: |
10.2174/1871530323666230801100113 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM360262597 |
|---|
| LEADER | 01000caa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM360262597 | ||
| 003 | DE-627 | ||
| 005 | 20240418232248.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231226s2024 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.2174/1871530323666230801100113 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1379.xml |
| 035 | |a (DE-627)NLM360262597 | ||
| 035 | |a (NLM)37526450 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Bayegi, Shideh Namazi |e verfasserin |4 aut | |
| 245 | 1 | 4 | |a The Reconstitution of T-cells after Allogeneic Hematopoietic Stem Cell Transplant in a Pediatric Patient with Congenital Amegakaryocytic Thrombocytopenia (CAMT) |
| 264 | 1 | |c 2024 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 18.04.2024 | ||
| 500 | |a Date Revised 18.04.2024 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright© Bentham Science Publishers; For any queries, please email at epubbenthamscience.net. | ||
| 520 | |a BACKGROUND: Congenital amegakaryocytic thrombocytopenia (CAMT) is a bone marrow failure syndrome with autosomal recessive inheritance characterized by the lack of megakaryocytes and thrombocytopenia. The cause of the disease is a mutation in the c-Mpl gene, which encodes the thrombopoietin (TPO) receptor. The main treatment for this genetic disorder is an allogeneic hematopoietic stem cell transplant (allo-HSCT). However, transplant-related mortality, development of acute and chronic graft-versushost disease (GvHD), and susceptibility to opportunistic infections are major barriers to transplantation. Delay in the reconstitution of T cells and imbalance in the regeneration of distinct functional CD4 and CD8 T-cell subsets mainly affect post-transplant complications. We report a case of CAMT, who developed acute GvHD but had no signs and symptoms of chronic GvHD following allo-HSCT | ||
| 520 | |a CASE PRESENTATION: At the age of four, she presented with petechiae and purpura. In laboratory investigations, pancytopenia without organomegaly, and cellularity less than 5% in bone marrow biopsy, were observed. A primary diagnosis of idiopathic aplastic anemia was made, and she was treated with prednisolone, cyclosporine, and anti-thymocyte globulin (ATG), which did not respond. Genetic analysis revealed the mutation c.1481T>G (p. L494W) in exon 10 of the c-Mpl gene, and the diagnosis of CAMT was confirmed. The patient underwent allo-HSCT from a healthy sibling donor. Alloimmunization reactions and immune disorders were present due to long-term treatment with immunosuppressive medications and repeated blood and platelet transfusions. Hence, the regeneration of T-lymphocytes after allo-HSCT was evaluated | ||
| 520 | |a CONCLUSION: Successful treatment of acute GvHD prevented advancing the condition to chronic GvHD, and this was accompanied by delayed T-cell reconstitution through an increase in Treg:Tcons ratio | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a CAMT | |
| 650 | 4 | |a GvHD | |
| 650 | 4 | |a T-cell reconstitution | |
| 650 | 4 | |a allogeneic HSCT | |
| 650 | 4 | |a anti-thymocyte globulin. | |
| 650 | 4 | |a c-Mpl | |
| 700 | 1 | |a Hamidieh, Amir Ali |e verfasserin |4 aut | |
| 700 | 1 | |a Behfar, Maryam |e verfasserin |4 aut | |
| 700 | 1 | |a Saghazadeh, Amene |e verfasserin |4 aut | |
| 700 | 1 | |a Bozorgmehr, Mahmood |e verfasserin |4 aut | |
| 700 | 1 | |a Tajik, Nader |e verfasserin |4 aut | |
| 700 | 1 | |a Delbandi, Ali-Akbar |e verfasserin |4 aut | |
| 700 | 1 | |a Delavari, Samaneh |e verfasserin |4 aut | |
| 700 | 1 | |a Shekarabi, Mehdi |e verfasserin |4 aut | |
| 700 | 1 | |a Rezaei, Nima |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Endocrine, metabolic & immune disorders drug targets |d 2006 |g 24(2024), 2 vom: 01., Seite 265-272 |w (DE-627)NLM161976174 |x 2212-3873 |7 nnns |
| 773 | 1 | 8 | |g volume:24 |g year:2024 |g number:2 |g day:01 |g pages:265-272 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.2174/1871530323666230801100113 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 24 |j 2024 |e 2 |b 01 |h 265-272 | ||