Variants of LYST and novel STK4 gene mutation in a child with accelerated Chediak Higashi syndrome
Chediak-Higashi syndrome (CHS) is a rare haematological and immunodeficiency disorder that occurs in childhood leading to recurrent infections, bleeding tendencies and progressive neurological dysfunction. Partial oculocutaneous albinism occurs in almost all cases. The exact prevalence is unknown, a...
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| Format: | Article |
| Language: | English |
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The Korean Society of Pediatric Infectious Diseases
2024
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| Online Access: | http://psasir.upm.edu.my/id/eprint/113395/ http://psasir.upm.edu.my/id/eprint/113395/1/113395.pdf |
| _version_ | 1848866210701115392 |
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| author | Abu Bakar, Asrar Shunmugarajoo, Haema Nachiappan, Jeyaseelan P. Ismail, Intan Hakimah |
| author_facet | Abu Bakar, Asrar Shunmugarajoo, Haema Nachiappan, Jeyaseelan P. Ismail, Intan Hakimah |
| author_sort | Abu Bakar, Asrar |
| building | UPM Institutional Repository |
| collection | Online Access |
| description | Chediak-Higashi syndrome (CHS) is a rare haematological and immunodeficiency disorder that occurs in childhood leading to recurrent infections, bleeding tendencies and progressive neurological dysfunction. Partial oculocutaneous albinism occurs in almost all cases. The exact prevalence is unknown, and the disease is caused by over 70 identified mutations in the lysosomal trafficking regulator gene. The presence of a bright polychromatic appearance from hair shaft and abnormally large intracytoplasmic granules, especially within neutrophils and platelets in the bone marrow is highly suggestive. Treatment is largely supportive, and the only curative treatment is through an allogeneic hematopoietic stem cell transplant. Without transplant, most patients will enter an accelerated phase of hemophagocytic lymphohistiocytosis (HLH) which carries a high mortality rate. We present a young male with CHS who we had followed through and eventually developed a fulminant accelerated phase. We believe this is only the second reported case of CHS in Malaysia. |
| first_indexed | 2025-11-15T14:16:59Z |
| format | Article |
| id | upm-113395 |
| institution | Universiti Putra Malaysia |
| institution_category | Local University |
| language | English |
| last_indexed | 2025-11-15T14:16:59Z |
| publishDate | 2024 |
| publisher | The Korean Society of Pediatric Infectious Diseases |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | upm-1133952024-11-22T06:21:33Z http://psasir.upm.edu.my/id/eprint/113395/ Variants of LYST and novel STK4 gene mutation in a child with accelerated Chediak Higashi syndrome Abu Bakar, Asrar Shunmugarajoo, Haema Nachiappan, Jeyaseelan P. Ismail, Intan Hakimah Chediak-Higashi syndrome (CHS) is a rare haematological and immunodeficiency disorder that occurs in childhood leading to recurrent infections, bleeding tendencies and progressive neurological dysfunction. Partial oculocutaneous albinism occurs in almost all cases. The exact prevalence is unknown, and the disease is caused by over 70 identified mutations in the lysosomal trafficking regulator gene. The presence of a bright polychromatic appearance from hair shaft and abnormally large intracytoplasmic granules, especially within neutrophils and platelets in the bone marrow is highly suggestive. Treatment is largely supportive, and the only curative treatment is through an allogeneic hematopoietic stem cell transplant. Without transplant, most patients will enter an accelerated phase of hemophagocytic lymphohistiocytosis (HLH) which carries a high mortality rate. We present a young male with CHS who we had followed through and eventually developed a fulminant accelerated phase. We believe this is only the second reported case of CHS in Malaysia. The Korean Society of Pediatric Infectious Diseases 2024 Article PeerReviewed text en http://psasir.upm.edu.my/id/eprint/113395/1/113395.pdf Abu Bakar, Asrar and Shunmugarajoo, Haema and Nachiappan, Jeyaseelan P. and Ismail, Intan Hakimah (2024) Variants of LYST and novel STK4 gene mutation in a child with accelerated Chediak Higashi syndrome. Pediatric Infection and Vaccine, 31 (1). pp. 122-129. ISSN 2384-1079; eISSN: 2384-1087 https://piv.or.kr/DOIx.php?id=10.14776/piv.2024.31.e14 10.14776/piv.2024.31.e14 |
| spellingShingle | Abu Bakar, Asrar Shunmugarajoo, Haema Nachiappan, Jeyaseelan P. Ismail, Intan Hakimah Variants of LYST and novel STK4 gene mutation in a child with accelerated Chediak Higashi syndrome |
| title | Variants of LYST and novel STK4 gene mutation in a child with accelerated Chediak Higashi syndrome |
| title_full | Variants of LYST and novel STK4 gene mutation in a child with accelerated Chediak Higashi syndrome |
| title_fullStr | Variants of LYST and novel STK4 gene mutation in a child with accelerated Chediak Higashi syndrome |
| title_full_unstemmed | Variants of LYST and novel STK4 gene mutation in a child with accelerated Chediak Higashi syndrome |
| title_short | Variants of LYST and novel STK4 gene mutation in a child with accelerated Chediak Higashi syndrome |
| title_sort | variants of lyst and novel stk4 gene mutation in a child with accelerated chediak higashi syndrome |
| url | http://psasir.upm.edu.my/id/eprint/113395/ http://psasir.upm.edu.my/id/eprint/113395/ http://psasir.upm.edu.my/id/eprint/113395/ http://psasir.upm.edu.my/id/eprint/113395/1/113395.pdf |