Congenital hemophagocytic lymphohistiocytosis presenting as thrombocytopenia in a newborn.
Publication
, Journal Article
Hinson, A; Owen, W; Prose, N; Parikh, S; Thornburg, C
Published in: J Pediatr Hematol Oncol
May 2015
Hemophagocytic lymphohistiocytosis (HLH) is a disease caused by dysregulation and hyperactivation of the immune system, and can be familial or acquired. HLH presenting in infancy can be rapidly fatal if not promptly recognized and treated. Congenital HLH can be caused by various genetic mutations or part of immunodeficiency syndromes. We present an infant with Griscelli syndrome and familial HLH with atypical genetic mutations, presenting as thrombocytopenia on the first day of life, cured with chemotherapy and unrelated cord blood transplant.
Duke Scholars
Published In
J Pediatr Hematol Oncol
DOI
EISSN
1536-3678
Publication Date
May 2015
Volume
37
Issue
4
Start / End Page
300 / 303
Location
United States
Related Subject Headings
- rab27 GTP-Binding Proteins
- rab GTP-Binding Proteins
- Thrombocytopenia
- Primary Immunodeficiency Diseases
- Piebaldism
- Oncology & Carcinogenesis
- Lymphohistiocytosis, Hemophagocytic
- Infant, Newborn
- Immunologic Deficiency Syndromes
- Humans
Citation
APA
Chicago
ICMJE
MLA
NLM
Hinson, A., Owen, W., Prose, N., Parikh, S., & Thornburg, C. (2015). Congenital hemophagocytic lymphohistiocytosis presenting as thrombocytopenia in a newborn. J Pediatr Hematol Oncol, 37(4), 300–303. https://doi.org/10.1097/MPH.0000000000000234
Hinson, Ashley, William Owen, Neil Prose, Suhag Parikh, and Courtney Thornburg. “Congenital hemophagocytic lymphohistiocytosis presenting as thrombocytopenia in a newborn.” J Pediatr Hematol Oncol 37, no. 4 (May 2015): 300–303. https://doi.org/10.1097/MPH.0000000000000234.
Hinson A, Owen W, Prose N, Parikh S, Thornburg C. Congenital hemophagocytic lymphohistiocytosis presenting as thrombocytopenia in a newborn. J Pediatr Hematol Oncol. 2015 May;37(4):300–3.
Hinson, Ashley, et al. “Congenital hemophagocytic lymphohistiocytosis presenting as thrombocytopenia in a newborn.” J Pediatr Hematol Oncol, vol. 37, no. 4, May 2015, pp. 300–03. Pubmed, doi:10.1097/MPH.0000000000000234.
Hinson A, Owen W, Prose N, Parikh S, Thornburg C. Congenital hemophagocytic lymphohistiocytosis presenting as thrombocytopenia in a newborn. J Pediatr Hematol Oncol. 2015 May;37(4):300–303.
Published In
J Pediatr Hematol Oncol
DOI
EISSN
1536-3678
Publication Date
May 2015
Volume
37
Issue
4
Start / End Page
300 / 303
Location
United States
Related Subject Headings
- rab27 GTP-Binding Proteins
- rab GTP-Binding Proteins
- Thrombocytopenia
- Primary Immunodeficiency Diseases
- Piebaldism
- Oncology & Carcinogenesis
- Lymphohistiocytosis, Hemophagocytic
- Infant, Newborn
- Immunologic Deficiency Syndromes
- Humans