title: Congenital hemophagocytic lymphohistiocytosis presenting as thrombocytopenia in a newborn.
abstract: 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.
authors.affiliation: *Departments of Pediatrics, Duke University Medical Center, Durham, NC †Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA ‡Department of Pediatrics, Rady Children's Hospital, San Diego, CA.
authors.forename: Ashley
authors.initials: A
authors.lastname: Hinson
authors.forename: William
authors.initials: W
authors.lastname: Owen
authors.forename: Neil
authors.initials: N
authors.lastname: Prose
authors.forename: Suhag
authors.initials: S
authors.lastname: Parikh
authors.forename: Courtney
authors.initials: C
authors.lastname: Thornburg
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics; D007231:Infant, Newborn; D051359:Lymphohistiocytosis, Hemophagocytic / Q000151:congenital* / Q000628:therapy; D016116:Piebaldism / Q000235:genetics; D000081207:Primary Immunodeficiency Diseases; D013921:Thrombocytopenia / Q000209:etiology*; D020691:rab GTP-Binding Proteins / Q000235:genetics; D000075745:rab27 GTP-Binding Proteins
chemical_list: D000075745:rab27 GTP-Binding Proteins; C066694:RAB27A protein, human; D020691:rab GTP-Binding Proteins