Neonatal isoimmune thrombocytopenia caused by type I CD36 deficiency having novel splicing isoforms of the CD36 gene.

Abstract:

:Neonatal alloimmune thrombocytopenia (NAIT) occurs because of transplacentally acquired maternal platelet alloantibodies. Most of the alloantibodies are against human platelet antigens, but the alloantibody against CD36 is rare. A full-term female baby was delivered by a mother who experienced two spontaneous abortions. The baby had thrombocytopenia with cephalhematoma. The platelet count increased by immunoglobulin therapy (400 mg/kg) for 3 d. Platelet antibody was detected in the postpartum maternal serum. The specificity of the antibody directed against platelets was identified as anti-Nak(a) (CD36). Flow cytometric analysis showed no expression of CD36 in both platelets and monocytes from mother. Mutation analysis revealed two different splicing isoforms of maternal CD36 mRNA. One allele was exon 4 skipping, another was exon 9 skipping, both of which led to a frameshift and produced a truncated CD36 protein. These results indicate that NAIT is caused by maternal CD36 deficiency having CD36 splicing abnormalities.

journal_name

Eur J Haematol

authors

Taketani T,Ito K,Mishima S,Kanai R,Uchiyama A,Hirata Y,Kumakura S,Ishikura H,Yamaguchi S

doi

10.1111/j.1600-0609.2008.01093.x

subject

Has Abstract

pub_date

2008-07-01 00:00:00

pages

70-4

issue

1

eissn

0902-4441

issn

1600-0609

pii

EJH1093

journal_volume

81

pub_type

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