Successful allogeneic hematopoietic stem cell transplantation in a patient with type I CD36 deficiency: a case study and literature review

Okuyama, Shuhei; Sumi, Masahiko; Ishikawa, Ryuto; Shishido, Tsutomu; Koyama, Daisuke; Ueki, Toshimitsu; Takahashi, Daisuke; Kobayashi, Hironori; Kobayashi, Hikaru; Tsuno, Nelson Hirokazu

doi:10.1007/s12185-023-03637-4

Int J Hematol

2023

DOI: 10.1007/s12185-023-03637-4

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Successful allogeneic hematopoietic stem cell transplantation in a patient with type I CD36 deficiency: a case study and literature review

Shuhei Okuyama,

Masahiko Sumi,

Ryuto Ishikawa

et al.

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Cited by 3 publications

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“…The second case [11] was a 64-year-old Japanese man (case 3 in Table 1) diagnosed with acute myeloid leukaemia (AML), who achieved morphological remission after one cycle of induction chemotherapy and received several platelet transfusions before the end of the consolidation therapy. He developed PTR during the course of chemotherapy and anti-CD36 antibodies (titre: 16), but no anti-HLA antibodies were identified in his plasma.…”

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confidence: 99%

The role of CD36 antibodies in haematopoietic stem cell transplantation

Tsuno,

Lozano

2023

Vox Sanguinis

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mentioning

confidence: 99%

The role of CD36 antibodies in haematopoietic stem cell transplantation

Tsuno,

Lozano

2023

Vox Sanguinis

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Haplotypes analysis reveals the genetic basis of type I CD36 deficiency

Xia,

Chen,

et al. 2024

Sci Rep

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CD36, also known as glycoprotein IV, is classified into two distinct subgroups based on the presence or absence of its expression on monocytes. The CD36 gene spans approximately 50,000 base pairs. Historically, research has focused on identifying CD36 mutations through Sanger sequencing and next-generation sequencing (NGS), with limited exploration of haplotypes. In this study, we collected blood samples from donors with type I and type II CD36 deficiencies as well as from healthy controls, and employed single-molecule long-read sequencing (also known as Third-Generation Sequencing) of genomic DNA to analyze the genetic basis of CD36. The study identified 180 genetic variants, 12 of which were found to alter the amino acid sequence. Notably, four of these mutations (c.220 C > T; c.329_330delAC; c.430-1 G > C; c.1006 + 2 T > G) are premature termination mutations that lead to protein truncation. Using Fisher’s exact test, we statistically analyzed a specific haplotype, c.-132A > C and c.329_330delAC, along with their clinical phenotypes, revealing a strong association between these variants in the 5’ block and type I CD36 deficiency. We analyzed the CD36 gene sequences in platelet donors and patients with PTR (platelet transfusion refractoriness) and FNAIT (fetal and neonatal alloimmune thrombocytopenia), conducting a detailed haplotype analysis associated with type I CD36 deficiency and FNAIT. Supplementary Information The online version contains supplementary material available at 10.1038/s41598-024-74917-0.

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Allogeneic Hematopoietic Stem Cell Transplantation From a CD36+ Donor in an Immunized Patient With Type I Hereditary CD36 Deficiency

Spath,

Nakov,

Schuster

et al. 2024

Transplantation

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Successful allogeneic hematopoietic stem cell transplantation in a patient with type I CD36 deficiency: a case study and literature review

Cited by 3 publications

References 22 publications

The role of CD36 antibodies in haematopoietic stem cell transplantation

The role of CD36 antibodies in haematopoietic stem cell transplantation

Haplotypes analysis reveals the genetic basis of type I CD36 deficiency

Allogeneic Hematopoietic Stem Cell Transplantation From a CD36+ Donor in an Immunized Patient With Type I Hereditary CD36 Deficiency

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