Identification of a Novel C16orf57 Mutation in Iranian Patient with Clericuzio-type Poikiloderma with Neutropenia (CPN): A Case Report
Poikiloderma is a hereditary pathologic situation in which the appearance of skin rash is associated with epidermal atrophy, telangiectasia, and reticular dyspigmentation skin symptoms of poikiloderma are usually caused by sun damage. The main reason forpoikiloderma is unknown. We introduce a 14- m...
Main Authors: | , |
---|---|
Format: | Article |
Language: | English |
Published: |
Tehran University of Medical Sciences
2019-08-01
|
Series: | Iranian Journal of Allergy, Asthma and Immunology |
Subjects: | |
Online Access: | https://ijaai.tums.ac.ir/index.php/ijaai/article/view/2261 |
id |
doaj-8132405520d24afb89e6b41ac6d2888c |
---|---|
record_format |
Article |
spelling |
doaj-8132405520d24afb89e6b41ac6d2888c2020-11-25T04:12:05ZengTehran University of Medical SciencesIranian Journal of Allergy, Asthma and Immunology1735-15021735-52492019-08-0118410.18502/ijaai.v18i4.14242261Identification of a Novel C16orf57 Mutation in Iranian Patient with Clericuzio-type Poikiloderma with Neutropenia (CPN): A Case ReportFarhad Abolnezhadian0Sara Iranparast1Department of Pediatrics, Abuzar Children’s Hospital, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, IranStudent Research Committee, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran AND Department of Immunology, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran Poikiloderma is a hereditary pathologic situation in which the appearance of skin rash is associated with epidermal atrophy, telangiectasia, and reticular dyspigmentation skin symptoms of poikiloderma are usually caused by sun damage. The main reason forpoikiloderma is unknown. We introduce a 14- month-old boy who referred to our center with a complaint of fever and cough. Furthermore, hepatosplenomegaly symptoms had been presented at the time of birth and were continuously observed at age one. He had transient thrombocytopenia when he was born due to his prematurity condition, which was resolved during Intravenous Immunoglobin (IVIG) treatment. Therefore, the presence of various mutation scan lead to distinct clinical symptoms. Immunohematologic abnormalities such as increased level of IgM and IgE antibodies, as well as increased C-reactive protein (CRP) and Erythrocyte sedimentation rate (ESR), have been reported. However, mutation of the C16orf57 gene was identified in this patient. We also introduced a new genetic mutation in a particular part of DNA sequence (NM_001195302: exon6: c.T703C) that leads to new clinical finding in PN. https://ijaai.tums.ac.ir/index.php/ijaai/article/view/2261HepatoslenomegalyPoikilodermaThrombocytopenia |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Farhad Abolnezhadian Sara Iranparast |
spellingShingle |
Farhad Abolnezhadian Sara Iranparast Identification of a Novel C16orf57 Mutation in Iranian Patient with Clericuzio-type Poikiloderma with Neutropenia (CPN): A Case Report Iranian Journal of Allergy, Asthma and Immunology Hepatoslenomegaly Poikiloderma Thrombocytopenia |
author_facet |
Farhad Abolnezhadian Sara Iranparast |
author_sort |
Farhad Abolnezhadian |
title |
Identification of a Novel C16orf57 Mutation in Iranian Patient with Clericuzio-type Poikiloderma with Neutropenia (CPN): A Case Report |
title_short |
Identification of a Novel C16orf57 Mutation in Iranian Patient with Clericuzio-type Poikiloderma with Neutropenia (CPN): A Case Report |
title_full |
Identification of a Novel C16orf57 Mutation in Iranian Patient with Clericuzio-type Poikiloderma with Neutropenia (CPN): A Case Report |
title_fullStr |
Identification of a Novel C16orf57 Mutation in Iranian Patient with Clericuzio-type Poikiloderma with Neutropenia (CPN): A Case Report |
title_full_unstemmed |
Identification of a Novel C16orf57 Mutation in Iranian Patient with Clericuzio-type Poikiloderma with Neutropenia (CPN): A Case Report |
title_sort |
identification of a novel c16orf57 mutation in iranian patient with clericuzio-type poikiloderma with neutropenia (cpn): a case report |
publisher |
Tehran University of Medical Sciences |
series |
Iranian Journal of Allergy, Asthma and Immunology |
issn |
1735-1502 1735-5249 |
publishDate |
2019-08-01 |
description |
Poikiloderma is a hereditary pathologic situation in which the appearance of skin rash is associated with epidermal atrophy, telangiectasia, and reticular dyspigmentation skin symptoms of poikiloderma are usually caused by sun damage. The main reason forpoikiloderma is unknown. We introduce a 14- month-old boy who referred to our center with a complaint of fever and cough. Furthermore, hepatosplenomegaly symptoms had been presented at the time of birth and were continuously observed at age one. He had transient thrombocytopenia when he was born due to his prematurity condition, which was resolved during Intravenous Immunoglobin (IVIG) treatment. Therefore, the presence of various mutation scan lead to distinct clinical symptoms. Immunohematologic abnormalities such as increased level of IgM and IgE antibodies, as well as increased C-reactive protein (CRP) and Erythrocyte sedimentation rate (ESR), have been reported. However, mutation of the C16orf57 gene was identified in this patient. We also introduced a new genetic mutation in a particular part of DNA sequence (NM_001195302: exon6: c.T703C) that leads to new clinical finding in PN.
|
topic |
Hepatoslenomegaly Poikiloderma Thrombocytopenia |
url |
https://ijaai.tums.ac.ir/index.php/ijaai/article/view/2261 |
work_keys_str_mv |
AT farhadabolnezhadian identificationofanovelc16orf57mutationiniranianpatientwithclericuziotypepoikilodermawithneutropeniacpnacasereport AT sarairanparast identificationofanovelc16orf57mutationiniranianpatientwithclericuziotypepoikilodermawithneutropeniacpnacasereport |
_version_ |
1724416154421690368 |