TY - JOUR
T1 - The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies
T2 - implications for differential diagnosis and pathogenesis
AU - Bode, Sebastian F. N.
AU - Ammann, Sandra
AU - Al-Herz, Waleed
AU - Bataneant, Mihaela
AU - Dvorak, Christopher C.
AU - Gehring, Stephan
AU - Gennery, Andrew
AU - Gilmour, Kimberly C.
AU - Gonzalez-Granado, Luis I.
AU - Gross-Wieltsch, Ute
AU - Ifversen, Marianne
AU - Lingman-Framme, Jenny
AU - Matthes-Martin, Susanne
AU - Mesters, Rolf
AU - Meyts, Isabelle
AU - van Montfrans, JM
AU - Schmid, Jana Pachlopnik
AU - Pai, Sung-Yun
AU - Soler-Palacin, Pere
AU - Schuermann, Uta
AU - Schuster, Volker
AU - Seidel, Markus G.
AU - Speckmann, Carsten
AU - Stepensky, Polina
AU - Sykora, Karl-Walter
AU - Tesi, Bianca
AU - Vraetz, Thomas
AU - Waruiru, Catherine
AU - Bryceson, Yenan T.
AU - Moshous, Despina
AU - Lehmberg, Kai
AU - Jordan, Michael B.
AU - Ehl, Stephan
PY - 2015/6
Y1 - 2015/6
N2 - Hemophagocytic lymphohistiocytosis is a hyperinflammatory syndrome defined by clinical and laboratory criteria. Current criteria were created to identify patients with familial hemophagocytic lmyphohistiocytosis in immediate need of immunosuppressive therapy. However, these criteria also identify patients with infection-associated hemophagocytic inflammatory states lacking genetic defects typically predisposing to hemophagocytic lymphohistiocytosis. These patients include those with primary immunodeficiencies, in whom the pathogenesis of the inflammatory syndrome may be distinctive and aggressive immunosuppression is contraindicated. To better characterize hemophagocytic inflammation associated with immunodeficiencies, we combined an international survey with a literature search and identified 63 patients with primary immunodeficiencies other than cytotoxicity defects or X-linked lymphoproliferative disorders, presenting with conditions fulfilling current criteria for hemophagocytic lymphohistiocytosis. Twelve patients had severe combined immunodeficiency with
AB - Hemophagocytic lymphohistiocytosis is a hyperinflammatory syndrome defined by clinical and laboratory criteria. Current criteria were created to identify patients with familial hemophagocytic lmyphohistiocytosis in immediate need of immunosuppressive therapy. However, these criteria also identify patients with infection-associated hemophagocytic inflammatory states lacking genetic defects typically predisposing to hemophagocytic lymphohistiocytosis. These patients include those with primary immunodeficiencies, in whom the pathogenesis of the inflammatory syndrome may be distinctive and aggressive immunosuppression is contraindicated. To better characterize hemophagocytic inflammation associated with immunodeficiencies, we combined an international survey with a literature search and identified 63 patients with primary immunodeficiencies other than cytotoxicity defects or X-linked lymphoproliferative disorders, presenting with conditions fulfilling current criteria for hemophagocytic lymphohistiocytosis. Twelve patients had severe combined immunodeficiency with
KW - CHRONIC GRANULOMATOUS-DISEASE
KW - MACROPHAGE ACTIVATION SYNDROME
KW - BONE-MARROW TRANSPLANTATION
KW - WISKOTT-ALDRICH-SYNDROME
KW - LYMPHOPROLIFERATIVE DISORDER
KW - DEFICIENCY
KW - INFLAMMATION
KW - CD27
KW - MANIFESTATIONS
KW - CYTOTOXICITY
U2 - 10.3324/haematol.2014.121608
DO - 10.3324/haematol.2014.121608
M3 - Article
C2 - 26022711
SN - 0390-6078
VL - 100
SP - 978
EP - 988
JO - Haematologica
JF - Haematologica
IS - 7
ER -