Combined newborn screening for familial hemophagocytic lymphohistiocytosis and severe T- and B-cell immunodeficiencies

Stephan Borte; Marie Meeths; Ines Liebscher; Kerstin Krist; Magnus Nordenskjöld; Lennart Hammarström; Ulrika von Döbeln; Jan-Inge Henter; Yenan T Bryceson

doi:10.1016/j.jaci.2014.04.026

Combined newborn screening for familial hemophagocytic lymphohistiocytosis and severe T- and B-cell immunodeficiencies

J Allergy Clin Immunol. 2014 Jul;134(1):226-8. doi: 10.1016/j.jaci.2014.04.026. Epub 2014 May 29.

Authors

Stephan Borte¹, Marie Meeths², Ines Liebscher³, Kerstin Krist⁴, Magnus Nordenskjöld⁵, Lennart Hammarström⁶, Ulrika von Döbeln⁷, Jan-Inge Henter⁸, Yenan T Bryceson⁹

Affiliations

¹ Division of Clinical Immunology and Transfusion Medicine, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden; Translational Centre for Regenerative Medicine (TRM), University of Leipzig, Leipzig, Germany; ImmunoDeficiencyCenter Leipzig at Hospital St Georg gGmbH Leipzig, Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Leipzig, Germany. Electronic address: Stephan.Borte@ki.se.
² Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden; Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.
³ Medical Faculty, Institute of Biochemistry, Division of Molecular Biochemistry, University of Leipzig, Leipzig, Germany.
⁴ Translational Centre for Regenerative Medicine (TRM), University of Leipzig, Leipzig, Germany.
⁵ Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.
⁶ Division of Clinical Immunology and Transfusion Medicine, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden.
⁷ Division of Metabolic Diseases, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.
⁸ Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.
⁹ Department of Medicine, Centre for Infectious Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden; Broegelmann Research Laboratory, The Gades Institute, University of Bergen, Bergen, Norway. Electronic address: Yenan.Bryceson@ki.se.

PMID: 24882743
DOI: 10.1016/j.jaci.2014.04.026

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

B-Lymphocytes / immunology
B-Lymphocytes / pathology*
Dried Blood Spot Testing
Early Diagnosis
Humans
Immunologic Deficiency Syndromes / diagnosis*
Immunologic Deficiency Syndromes / genetics
Immunologic Deficiency Syndromes / immunology
Immunologic Deficiency Syndromes / pathology
Infant, Newborn
Lymphohistiocytosis, Hemophagocytic / diagnosis*
Lymphohistiocytosis, Hemophagocytic / genetics
Lymphohistiocytosis, Hemophagocytic / immunology
Lymphohistiocytosis, Hemophagocytic / pathology
Membrane Proteins / genetics*
Neonatal Screening / methods
Sequence Inversion
T-Lymphocytes / immunology
T-Lymphocytes / pathology*

Substances

Membrane Proteins
UNC13D protein, human