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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