title: Hemophagocytic lymphohistiocytosis in infants: a single center experience from India.
abstract: There is paucity of outcome data for hemophagocytic lymphohistiocytosis (HLH) in infants from India, especially post stem cell transplant (SCT). We report outcome data of eight infants diagnosed with HLH. Mean age was 7.1 months (range 2-11). Mutation analysis was possible in seven patients. One patient had Griscelli syndrome. In three patients, no known mutation could be identified, while in remaining three homozygous mutations in Perforin, Munc and STX11 gene were identified. All were treated as per HLH 2004 protocol. Four died during induction phase. One patient abandoned therapy. Two underwent SCT, while one is awaiting SCT. First patient is alive and disease-free at 22 months postmatched sibling donor SCT. Second underwent unrelated double cord blood transplant, but died 5 months posttransplant due to renal failure. It is feasible to offer SCT for infants with familial HLH in the developing world although barriers like sepsis and disease refractoriness remain.
authors.affiliation: 1Pediatric Hematology Oncology & Bone Marrow Transplant Unit, Department of Pediatrics, Institute of Child Health, Sir Ganga Ram Hospital , Old Rajinder Nagar, New Delhi , India.
authors.forename: Mohammed
authors.initials: M
authors.lastname: Ramzan
authors.forename: Satya Prakash
authors.initials: SP
authors.lastname: Yadav
authors.forename: Gaurav
authors.initials: G
authors.lastname: Kharya
authors.forename: Vasant
authors.initials: V
authors.lastname: Chinnabhandar
authors.forename: Miriam
authors.initials: M
authors.lastname: Enteserian
authors.forename: J Inge
authors.initials: JI
authors.lastname: Henter
authors.forename: Anupam
authors.initials: A
authors.lastname: Sachdeva
mesh_terms: D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D006720:Homozygote; D006801:Humans; D007194:India; D007223:Infant; D051359:Lymphohistiocytosis, Hemophagocytic / Q000235:genetics / Q000401:mortality / Q000628:therapy*; D008297:Male; D009154:Mutation / Q000235:genetics; D054353:Perforin / Q000235:genetics; D011379:Prognosis; D050765:Qa-SNARE Proteins / Q000235:genetics; D012189:Retrospective Studies; D033581:Stem Cell Transplantation; D015996:Survival Rate
chemical_list: C510468:PRF1 protein, human; D050765:Qa-SNARE Proteins; C541732:STX11 protein, human; D054353:Perforin