Incidence and molecular basis of <scp>CD</scp>36 deficiency in <scp>S</scp>hanghai population

Li, Ruishu; Qiao, Zhenglei; Ling, Bing; Lü, Ping; Zhu, Ziyan

doi:10.1111/trf.12890

Cited by 20 publications

(19 citation statements)

References 34 publications

(33 reference statements)

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“…The total absence of CD36 expression on monocytes as well as platelets in this mother could be attributed to heterozygous deletions: 332_333del CA and 1254 1 6_1254 1 11delTATTTG in Exon 5 and Intron 13, respectively. The dinucleotide deletion 329-330delAC represents the most frequent mutation found in Taiwanese and Chinese populations 13,21,23 leading to frameshift at Position 110. 24 The mutation of six nucleotide deletions (1254 1 6_1254 1 11delTATTTG) seems to be a rare mutation among the Taiwanese population (allele frequency 5 0.00078).…”

Section: Discussionmentioning

confidence: 99%

Fetal/neonatal alloimmune thrombocytopenia due to anti‐CD36 antibodies: antibody evaluations by CD36‐transfected cell lines

Lin

Lee

et al. 2017

Transfusion

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BACKGROUND: Isoantibodies against CD36 (platelet glycoprotein 4), developed in Type I CD36-deficient mothers are frequently reported as the cause of fetal/ neonatal alloimmune thrombocytopenia in the Asian population. Therefore, further detailed characterization of anti-CD36-mediated fetal/neonatal alloimmune thrombocytopenia is warranted. Here, we report the characterization of a patient with fetal/neonatal alloimmune thrombocytopenia in a Taiwanese family caused by anti-CD36 isoantibodies using a novel antigen-capture method. STUDY DESIGN AND METHODS:Platelets and monocytes were analyzed for CD36 expression by flow cytometry. Sequencing analysis of the CD36 gene was performed to identify the mutation underlying the CD36 deficiency. Stable transfected human embryonic kidney HEK293 cells expressing recombinant CD36 were established. These cells were used for the characterization of anti-CD36 isoantibodies by flow cytometry, immunoprecipitation, and antigen-capture assay. RESULTS:Flow cytometry analysis revealed a total absence of CD36 on both platelets and monocytes of the mother (Type I CD36-deficient) caused by heterozygous deletions of the CD36 gene (332_333delCA and c.1254 1 6_1254 1 11delTATTTG). Analysis of maternal serum with CD36-transfected HEK293 cells by flow cytometry, immunoprecipitation, and antigen-capture assay demonstrated the presence of anti-CD36 isoantibodies in maternal serum. Interestingly, this antibody could not be detected by the monoclonal antibody immobilization of platelet antigens assay when anti-CD36 monoclonal antibody (clone FA6-152) was used as the capture antibody.CONCLUSION: This case reemphasizes the role of anti-CD36 isoantibodies on the pathomechanism of fetal/ neonatal alloimmune thrombocytopenia. The fact that the monoclonal antibody immobilization of platelet antigens assay does not seem to be reliable for the identification of all anti-CD36 antibodies indicates that screening of anti-CD36 isoantibodies by a monoclonal antibody-independent method, as presented here, should be considered. Fetal/neonatal alloimmune thrombocytopenia (FNAIT), which occurs in from 1 of 800 to 1 of 1000 live births, is the most common cause of severe thrombocytopenia and intracranial hemorrhage in the fetus and in term newborns.1,2 FNAIT is caused by maternal antibodies, which recognize paternalderived alloantigens on fetal platelets, leading to platelet destruction. In Caucasians, more than 75% of FNAIT cases are induced by alloantibodies against human platelet antigen-1a (HPA-1a), 3,4 whereas the most common antibodies causing FNAIT in Japanese are anti-HPA-4b alloantibodies. The clinical importance of anti-CD36 isoantibodies in the development of FNAIT has been reported in different populations.9-13 Currently, the antigen-capture assay represents the gold standard for detecting platelet antibodies. 14 With this assay, platelet antigens captured by mouse monoclonal antibody are used as the target for platelet antibodies. Unfortunately, this approach does not seem to be reliable for the identi...

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Section: Discussionmentioning

confidence: 99%

Fetal/neonatal alloimmune thrombocytopenia due to anti‐CD36 antibodies: antibody evaluations by CD36‐transfected cell lines

Lin

Lee

et al. 2017

Transfusion

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“…The incidence of CD36 Type I and Type II deficiency is extremely low in Australian 6 (0.0%) and French (0.0%) populations, but more frequent in African (7.7%) Chinese (1.8%‐2.2%), and Japanese (6.8%‐8.2%) people . The CD36 gene is highly polymorphic and more than 30 single‐nucleotide polymorphisms have been reported . Type I deficiency is commonly found in subjects who carry homozygous or compound heterozygous CD36 gene mutations.…”

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confidence: 99%

“…10,11 The CD36 gene is highly polymorphic and more than 30 singlenucleotide polymorphisms have been reported. 9 Type I deficiency is commonly found in subjects who carry homozygous or compound heterozygous CD36 gene mutations. In contrast, mutations are not always detectable in Type II-deficient individuals.…”

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confidence: 99%

Frequency of CD36 deficiency in Thais analyzed by quantification of CD36 on cell surfaces and in plasma

et al. 2020

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BACKGROUND Anti‐CD36s, developing after transfusion or during pregnancy, play an important role in immune‐mediated bleeding disorders among Asian populations. Currently, little is known about the clinical relevance of anti‐CD36. Here, we aimed to determine the frequency of CD36 deficiency in Thais by analyzing CD36 expression on cell surfaces and in plasma. STUDY DESIGN AND METHODS The expression and deficiency of CD36 on platelets and monocytes were determined by flow cytometry. Mutations in the CD36 gene were analyzed by nucleotide sequencing. Soluble CD36 (sCD36) in plasma was quantified with enzyme‐linked immunosorbent assay. RESULTS Fifteen of 700 blood donors (2.14%) were identified as CD36 deficient. The frequencies of Type I and II CD36 deficiency were 0.43% and 1.71%, respectively. Type I individuals exhibited c.1163A > T, c.429 + 4insG, and c.1156C > T. Type II individuals exhibited c.879 T > C, c.329‐330delAC, c.818 + 108delAACT, c.1125 + 13C > A, and c.1163A > T. CD36 on donor platelets (n = 685) showed a wide distribution of expression levels (mean fluorescence intensity, 16.71 ± 8.68). In the normal phenotype (n = 14), sCD36 concentration was 58.84 ± 11.68 ng/mL, which was significantly correlated with platelet CD36 expression (r2 = 0.8551). In Type II–deficient individuals (n = 6), a similar sCD36 concentration was detected (53.67 ± 8.17 ng/mL). However, sCD36 could not be detected in Type I individuals (n = 3). CONCLUSION CD36 Type I deficiency was found, indicating the potential for immune‐mediated platelet disorders in Thais. However, the underlying mutations differed from those reported in Japan and China. Interestingly, sCD36 could not be detected in plasma of Type I–deficient individuals. This finding may lead to the use of plasma to identify individuals at risk and to allow screening of large cohorts.

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“…A registry of CD36‐deficient blood donors should be established to maintain PTR patients and foetus with FNAIT. Finally, several SNPs causing non‐conservative amino acid substitutions have been reported . However, screening of allo antibodies against CD36 has not been conducted so far.…”

Section: Discussionmentioning

confidence: 99%

“…Nevertheless, screening for anti-Nak a isoantibodies should be considered in suspected cases of immunemediated thrombocytopenia. A registry of CD36-deficient [19]. However, screening of alloantibodies against CD36 has not been conducted so far.…”

Section: Discussionmentioning

confidence: 99%

CD36 deficiency among South‐East Asian populations

Xia

et al. 2016

ISBT Science Series

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Immune‐mediated thrombocytopenia is commonly caused by platelet‐reactive antibodies mostly against polymorphic structures residing on platelet glycoproteins such as human leucocyte antigen and human platelet antigen (HLA class I and HPA). In the Japanese population, some individuals do not express CD36 (CD36null also known as Naka) on the cell surface. Immunization of these individuals can lead to the development of CD36 isoantibodies (anti‐Naka) which play a role in the mechanism of platelet transfusion refractoriness, post‐transfusion purpura and fetal/neonatal alloimmune thrombocytopenia. Until today, however, little is known about the clinical relevance of CD36 deficiency and CD36 isoantibodies among other South‐East Asian populations. Therefore, multinational study was organised under the aegis of the ISBT to study the distribution of CD36 deficiency in this region.

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Incidence and molecular basis of CD36 deficiency in Shanghai population

Abstract: The study findings have confirmed the fact that the frequency of CD36 deficiency in the Chinese population is slightly lower than that in other Asian countries. The identification of several new mutation types indicated the polymorphism of CD36 gene in the Shanghai population.

Cited by 20 publications

References 34 publications

Fetal/neonatal alloimmune thrombocytopenia due to anti‐CD36 antibodies: antibody evaluations by CD36‐transfected cell lines

Fetal/neonatal alloimmune thrombocytopenia due to anti‐CD36 antibodies: antibody evaluations by CD36‐transfected cell lines

Frequency of CD36 deficiency in Thais analyzed by quantification of CD36 on cell surfaces and in plasma

CD36 deficiency among South‐East Asian populations

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