Hematopoietic stem cell transplantation complicated with EBV associated hemophagocytic lymphohistiocytosis in a patient with DOCK2 deficiency
Background. Dedicator of cytokinesis 2 (DOCK2) deficiency is a rare autosomal recessive combined immunodeficiency presenting with very early onset, severe bacterial and viral infections. In DOCK2 deficiency; T, B and NK cell numbers are decreased and functions are impaired resulting in severe...
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Hacettepe University Institute of Child Health
2021-12-01
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| Series: | The Turkish Journal of Pediatrics |
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| Online Access: | https://turkjpediatr.org/article/view/396 |
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| author | Elif Soyak Aytekin Deniz Çağdaş Çağman Tan Büşranur Çavdarlı Işıl Bilgiç İlhan Tezcan |
| author_facet | Elif Soyak Aytekin Deniz Çağdaş Çağman Tan Büşranur Çavdarlı Işıl Bilgiç İlhan Tezcan |
| author_sort | Elif Soyak Aytekin |
| collection | DOAJ |
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Background. Dedicator of cytokinesis 2 (DOCK2) deficiency is a rare autosomal recessive combined immunodeficiency presenting with very early onset, severe bacterial and viral infections. In DOCK2 deficiency; T, B and NK cell numbers are decreased and functions are impaired resulting in severe atrophy of secondary lymphoid tissues. The aim of this report is to provide information on clinical and laboratory features and hematopoietic stem cell transplantation (HSCT) outcomes of a DOCK2 deficient patient. The patient was diagnosed by using a targeted next generation sequencing primary immunodeficiency (PID) panel. Lymphocyte subsets were measured by flow-cytometry.
Case. Here, we describe a patient with DOCK2 deficiency presented with severe combined immunodeficiency. He underwent HSCT without conditioning regimen before the genetic diagnosis and developed hemophagocytic lymphohistiocytosis(HLH) due to Epstein-Barr virus (EBV) infection.
Conclusions. Genetic testing is necessery for early diagnosis of DOCK2 deficiency. The curative treatment should be HSCT soon after diagnosis.
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| format | Article |
| id | doaj-art-b30fe0bdab89474f816d3ede0711237d |
| institution | OA Journals |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2021-12-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-b30fe0bdab89474f816d3ede0711237d2025-08-20T02:01:51ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212021-12-0163610.24953/turkjped.2021.06.016Hematopoietic stem cell transplantation complicated with EBV associated hemophagocytic lymphohistiocytosis in a patient with DOCK2 deficiencyElif Soyak Aytekin0Deniz Çağdaş1Çağman Tan2Büşranur Çavdarlı3Işıl Bilgiç4İlhan Tezcan5Division of Pediatric Immunology, Hacettepe University Faculty of Medicine, Ankara.Division of Pediatric Immunology, Hacettepe University Faculty of Medicine, Ankara.Division of Pediatric Immunology, Hacettepe University Faculty of Medicine, Ankara.Department of Medical Genetics, Ankara Bilkent City Hospital, Ankara, Turkey.Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara.Division of Pediatric Immunology, Hacettepe University Faculty of Medicine, Ankara. Background. Dedicator of cytokinesis 2 (DOCK2) deficiency is a rare autosomal recessive combined immunodeficiency presenting with very early onset, severe bacterial and viral infections. In DOCK2 deficiency; T, B and NK cell numbers are decreased and functions are impaired resulting in severe atrophy of secondary lymphoid tissues. The aim of this report is to provide information on clinical and laboratory features and hematopoietic stem cell transplantation (HSCT) outcomes of a DOCK2 deficient patient. The patient was diagnosed by using a targeted next generation sequencing primary immunodeficiency (PID) panel. Lymphocyte subsets were measured by flow-cytometry. Case. Here, we describe a patient with DOCK2 deficiency presented with severe combined immunodeficiency. He underwent HSCT without conditioning regimen before the genetic diagnosis and developed hemophagocytic lymphohistiocytosis(HLH) due to Epstein-Barr virus (EBV) infection. Conclusions. Genetic testing is necessery for early diagnosis of DOCK2 deficiency. The curative treatment should be HSCT soon after diagnosis. https://turkjpediatr.org/article/view/396DOCK2 deficiencyEBV associated hemaphagocytic lymphohistiocytosishematopoietic stem cell transplantationhemophagocytic lymphohistiocytosissevere combined immune deficiency |
| spellingShingle | Elif Soyak Aytekin Deniz Çağdaş Çağman Tan Büşranur Çavdarlı Işıl Bilgiç İlhan Tezcan Hematopoietic stem cell transplantation complicated with EBV associated hemophagocytic lymphohistiocytosis in a patient with DOCK2 deficiency The Turkish Journal of Pediatrics DOCK2 deficiency EBV associated hemaphagocytic lymphohistiocytosis hematopoietic stem cell transplantation hemophagocytic lymphohistiocytosis severe combined immune deficiency |
| title | Hematopoietic stem cell transplantation complicated with EBV associated hemophagocytic lymphohistiocytosis in a patient with DOCK2 deficiency |
| title_full | Hematopoietic stem cell transplantation complicated with EBV associated hemophagocytic lymphohistiocytosis in a patient with DOCK2 deficiency |
| title_fullStr | Hematopoietic stem cell transplantation complicated with EBV associated hemophagocytic lymphohistiocytosis in a patient with DOCK2 deficiency |
| title_full_unstemmed | Hematopoietic stem cell transplantation complicated with EBV associated hemophagocytic lymphohistiocytosis in a patient with DOCK2 deficiency |
| title_short | Hematopoietic stem cell transplantation complicated with EBV associated hemophagocytic lymphohistiocytosis in a patient with DOCK2 deficiency |
| title_sort | hematopoietic stem cell transplantation complicated with ebv associated hemophagocytic lymphohistiocytosis in a patient with dock2 deficiency |
| topic | DOCK2 deficiency EBV associated hemaphagocytic lymphohistiocytosis hematopoietic stem cell transplantation hemophagocytic lymphohistiocytosis severe combined immune deficiency |
| url | https://turkjpediatr.org/article/view/396 |
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