A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive immunodeficiency disease characterized by frequent infections, hypopigmentation, progressive neurologic deterioration and hemophagocytic lymphohistiocytosis (HLH), known as the accelerated phase. There is little experience in the accelerat...
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| Format: | Article |
| Language: | English |
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Associação Brasileira de Divulgação Científica
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| Series: | Brazilian Journal of Medical and Biological Research |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2017000400501&lng=en&tlng=en |
| _version_ | 1811307513404981248 |
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| author | X.L. Wu X.Q. Zhao B.X. Zhang F. Xuan H.M. Guo F.T. Ma |
| author_facet | X.L. Wu X.Q. Zhao B.X. Zhang F. Xuan H.M. Guo F.T. Ma |
| author_sort | X.L. Wu |
| collection | DOAJ |
| description | Chediak-Higashi syndrome (CHS) is a rare autosomal recessive immunodeficiency disease characterized by frequent infections, hypopigmentation, progressive neurologic deterioration and hemophagocytic lymphohistiocytosis (HLH), known as the accelerated phase. There is little experience in the accelerated phase of CHS treatment worldwide. Here, we present a case of a 9-month-old boy with continuous high fever, hypopigmentation of the skin, enlarged lymph nodes, hepatosplenomegaly and lung infection. He was diagnosed with CHS by gene sequencing, and had entered the accelerated phase. After 8 weeks of therapy, the boy had remission and was prepared for allogenic stem cell transplantation. |
| first_indexed | 2024-04-13T09:05:37Z |
| format | Article |
| id | doaj.art-906f7b7b067c4feeb9c81178946ffe5e |
| institution | Directory Open Access Journal |
| issn | 1414-431X |
| language | English |
| last_indexed | 2024-04-13T09:05:37Z |
| publisher | Associação Brasileira de Divulgação Científica |
| record_format | Article |
| series | Brazilian Journal of Medical and Biological Research |
| spelling | doaj.art-906f7b7b067c4feeb9c81178946ffe5e2022-12-22T02:52:59ZengAssociação Brasileira de Divulgação CientíficaBrazilian Journal of Medical and Biological Research1414-431X50410.1590/1414-431x20165727S0100-879X2017000400501A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phaseX.L. WuX.Q. ZhaoB.X. ZhangF. XuanH.M. GuoF.T. MaChediak-Higashi syndrome (CHS) is a rare autosomal recessive immunodeficiency disease characterized by frequent infections, hypopigmentation, progressive neurologic deterioration and hemophagocytic lymphohistiocytosis (HLH), known as the accelerated phase. There is little experience in the accelerated phase of CHS treatment worldwide. Here, we present a case of a 9-month-old boy with continuous high fever, hypopigmentation of the skin, enlarged lymph nodes, hepatosplenomegaly and lung infection. He was diagnosed with CHS by gene sequencing, and had entered the accelerated phase. After 8 weeks of therapy, the boy had remission and was prepared for allogenic stem cell transplantation.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2017000400501&lng=en&tlng=enChediak-Higashi syndromeAccelerated phaseGene sequencingTherapy |
| spellingShingle | X.L. Wu X.Q. Zhao B.X. Zhang F. Xuan H.M. Guo F.T. Ma A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase Brazilian Journal of Medical and Biological Research Chediak-Higashi syndrome Accelerated phase Gene sequencing Therapy |
| title | A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase |
| title_full | A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase |
| title_fullStr | A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase |
| title_full_unstemmed | A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase |
| title_short | A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase |
| title_sort | novel frameshift mutation of chediak higashi syndrome and treatment in the accelerated phase |
| topic | Chediak-Higashi syndrome Accelerated phase Gene sequencing Therapy |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2017000400501&lng=en&tlng=en |
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