Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency

Bianca Tesi; Elena Sieni; Conceição Neves; Francesca Romano; Valentina Cetica; Ana Isabel Cordeiro; Samuel Chiang; Heinrich Schlums; Luisa Galli; Stefano Avenali; Annalisa Tondo; Clementina Canessa; Jan-Inge Henter; Magnus Nordenskjöld; Amy P Hsu; Steven M Holland; João F Neves; Chiara Azzari; Yenan T Bryceson

doi:10.1016/j.jaci.2014.11.030

Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency

J Allergy Clin Immunol. 2015 Jun;135(6):1638-41. doi: 10.1016/j.jaci.2014.11.030. Epub 2015 Jan 13.

Authors

Bianca Tesi¹, Elena Sieni², Conceição Neves³, Francesca Romano⁴, Valentina Cetica², Ana Isabel Cordeiro³, Samuel Chiang⁵, Heinrich Schlums⁵, Luisa Galli⁶, Stefano Avenali⁷, Annalisa Tondo², Clementina Canessa⁴, Jan-Inge Henter⁸, Magnus Nordenskjöld⁹, Amy P Hsu¹⁰, Steven M Holland¹⁰, João F Neves³, Chiara Azzari⁴, Yenan T Bryceson¹¹

Affiliations

¹ Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institute, Karolinska University Hospital Solna, Stockholm, Sweden; Clinical Genetics Unit, Department of Molecular Medicine and Surgery, and Center for Molecular Medicine, Karolinska Institute, Karolinska University Hospital, Stockholm, Sweden.
² Department of Pediatric Hematology Oncology, Anna Meyer Children's University Hospital, Florence, Italy.
³ Primary Immunodeficiencies Unit, Hospital Dona Estefania, Pediatric University Hospital, and CEDOC, Chronic Diseases Research Center, NOVA Medical School, Lisbon, Portugal.
⁴ Department of Pediatric Immunology, University of Florence, and Anna Meyer Children's University Hospital, Jeffrey Modell Center for Primary Immunodeficiencies, Florence, Italy.
⁵ Centre for Infectious Medicine, Department of Medicine, Karolinska Institute, Karolinska University Hospital Huddinge, Stockholm, Sweden.
⁶ Department of Pediatric Infectious Diseases, Anna Meyer Children's University Hospital, Florence, Italy.
⁷ Department of Pediatric Intensive Care, Anna Meyer Children's University Hospital, Florence, Italy.
⁸ Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institute, Karolinska University Hospital Solna, Stockholm, Sweden.
⁹ Clinical Genetics Unit, Department of Molecular Medicine and Surgery, and Center for Molecular Medicine, Karolinska Institute, Karolinska University Hospital, Stockholm, Sweden.
¹⁰ National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
¹¹ Centre for Infectious Medicine, Department of Medicine, Karolinska Institute, Karolinska University Hospital Huddinge, Stockholm, Sweden; Broegelmann Research Laboratory, Department of Clinical Sciences, University of Bergen, Norway. Electronic address: Yenan.Bryceson@ki.se.

PMID: 25592983
DOI: 10.1016/j.jaci.2014.11.030

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Base Sequence
Child, Preschool
Cytomegalovirus Infections / complications
Cytomegalovirus Infections / immunology*
Cytomegalovirus Infections / microbiology
Cytomegalovirus Infections / virology
Epstein-Barr Virus Infections / complications
Epstein-Barr Virus Infections / immunology*
Epstein-Barr Virus Infections / microbiology
Epstein-Barr Virus Infections / virology
Fatal Outcome
Female
Humans
Infant
Killer Cells, Natural / immunology
Killer Cells, Natural / pathology
Lymphohistiocytosis, Hemophagocytic / complications
Lymphohistiocytosis, Hemophagocytic / immunology*
Lymphohistiocytosis, Hemophagocytic / microbiology
Lymphohistiocytosis, Hemophagocytic / virology
Molecular Sequence Data
Mutation
Neutrophils / immunology
Neutrophils / pathology
Receptors, Interferon / deficiency*
Receptors, Interferon / genetics
Receptors, Interferon / immunology
T-Lymphocytes, Cytotoxic / immunology
T-Lymphocytes, Cytotoxic / pathology
Tuberculosis / complications
Tuberculosis / immunology*
Tuberculosis / microbiology
Tuberculosis / virology
Virus Diseases / complications
Virus Diseases / immunology*
Virus Diseases / microbiology
Virus Diseases / virology

Substances

IFNGR2 protein, human
Receptors, Interferon

Supplementary concepts

Interferon gamma, receptor 1, deficiency