X-linked inhibitor of apoptosis (XIAP) deficiency: The spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis

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X-linked inhibitor of apoptosis (XIAP) deficiency : The spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis. / Speckmann, C.; Lehmberg, K.; Albert, M.H.; Damgaard, R.B.; Fritsch, M.; Gyrd-Hansen, M.; Rensing-Ehl, A.; Vraetz, T.; Grimbacher, B.; Salzer, U.; Fuchs, I.; Ufheil, H.; Belohradsky, B.H.; Hassan, A.; Cale, C.M.; Elawad, M.; Strahm, B.; Schibli, S.; Lauten, M.; Kohl, M.; Meerpohl, J.J.; Rodeck, B.; Kolb, R.; Eberl, W.; Soerensen, J.; von Bernuth, H.; Lorenz, M.; Schwarz, Kai-Uwe; zur Stadt, U.; Ehl, S.

I: Clinical Immunology, Bind 149, Nr. 1, 01.10.2013, s. 133-141.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Speckmann, C, Lehmberg, K, Albert, MH, Damgaard, RB, Fritsch, M, Gyrd-Hansen, M, Rensing-Ehl, A, Vraetz, T, Grimbacher, B, Salzer, U, Fuchs, I, Ufheil, H, Belohradsky, BH, Hassan, A, Cale, CM, Elawad, M, Strahm, B, Schibli, S, Lauten, M, Kohl, M, Meerpohl, JJ, Rodeck, B, Kolb, R, Eberl, W, Soerensen, J, von Bernuth, H, Lorenz, M, Schwarz, K-U, zur Stadt, U & Ehl, S 2013, 'X-linked inhibitor of apoptosis (XIAP) deficiency: The spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis', Clinical Immunology, bind 149, nr. 1, s. 133-141. https://doi.org/10.1016/j.clim.2013.07.004

APA

Speckmann, C., Lehmberg, K., Albert, M. H., Damgaard, R. B., Fritsch, M., Gyrd-Hansen, M., Rensing-Ehl, A., Vraetz, T., Grimbacher, B., Salzer, U., Fuchs, I., Ufheil, H., Belohradsky, B. H., Hassan, A., Cale, C. M., Elawad, M., Strahm, B., Schibli, S., Lauten, M., ... Ehl, S. (2013). X-linked inhibitor of apoptosis (XIAP) deficiency: The spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis. Clinical Immunology, 149(1), 133-141. https://doi.org/10.1016/j.clim.2013.07.004

Vancouver

Speckmann C, Lehmberg K, Albert MH, Damgaard RB, Fritsch M, Gyrd-Hansen M o.a. X-linked inhibitor of apoptosis (XIAP) deficiency: The spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis. Clinical Immunology. 2013 okt. 1;149(1):133-141. https://doi.org/10.1016/j.clim.2013.07.004

Author

Speckmann, C. ; Lehmberg, K. ; Albert, M.H. ; Damgaard, R.B. ; Fritsch, M. ; Gyrd-Hansen, M. ; Rensing-Ehl, A. ; Vraetz, T. ; Grimbacher, B. ; Salzer, U. ; Fuchs, I. ; Ufheil, H. ; Belohradsky, B.H. ; Hassan, A. ; Cale, C.M. ; Elawad, M. ; Strahm, B. ; Schibli, S. ; Lauten, M. ; Kohl, M. ; Meerpohl, J.J. ; Rodeck, B. ; Kolb, R. ; Eberl, W. ; Soerensen, J. ; von Bernuth, H. ; Lorenz, M. ; Schwarz, Kai-Uwe ; zur Stadt, U. ; Ehl, S. / X-linked inhibitor of apoptosis (XIAP) deficiency : The spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis. I: Clinical Immunology. 2013 ; Bind 149, Nr. 1. s. 133-141.

Bibtex

@article{2c56193c3a0848ca9ce0a8f7697756ef,
title = "X-linked inhibitor of apoptosis (XIAP) deficiency: The spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis",
abstract = "X-linked inhibitor of apoptosis (XIAP) deficiency caused by mutations in BIRC4 was initially described in patients with X-linked lymphoproliferative syndrome (XLP) who had no mutations in SH2D1A. In the initial reports, EBV-associated hemophagocytic lymphohistiocytosis (HLH) was the predominant clinical phenotype. Among 25 symptomatic patients diagnosed with XIAP deficiency, we identified 17 patients who initially presented with manifestations other than HLH. These included Crohn-like bowel disease (n. =. 6), severe infectious mononucleosis (n. =. 4), isolated splenomegaly (n. =. 3), uveitis (n. =. 1), periodic fever (n. =. 1), fistulating skin abscesses (n. =. 1) and severe Giardia enteritis (n. =. 1). Subsequent manifestations included celiac-like disease, antibody deficiency, splenomegaly and partial HLH. Screening by flow cytometry identified 14 of 17 patients in our cohort. However, neither genotype nor protein expression nor results from cell death studies were clearly associated with the clinical phenotype. Only mutation analysis can reliably identify affected patients. XIAP deficiency must be considered in a wide range of clinical presentations.",
author = "C. Speckmann and K. Lehmberg and M.H. Albert and R.B. Damgaard and M. Fritsch and M. Gyrd-Hansen and A. Rensing-Ehl and T. Vraetz and B. Grimbacher and U. Salzer and I. Fuchs and H. Ufheil and B.H. Belohradsky and A. Hassan and C.M. Cale and M. Elawad and B. Strahm and S. Schibli and M. Lauten and M. Kohl and J.J. Meerpohl and B. Rodeck and R. Kolb and W. Eberl and J. Soerensen and {von Bernuth}, H. and M. Lorenz and Kai-Uwe Schwarz and {zur Stadt}, U. and S. Ehl",
year = "2013",
month = oct,
day = "1",
doi = "10.1016/j.clim.2013.07.004",
language = "English",
volume = "149",
pages = "133--141",
journal = "Clinical Immunology",
issn = "1521-6616",
publisher = "Academic Press",
number = "1",

}

RIS

TY - JOUR

T1 - X-linked inhibitor of apoptosis (XIAP) deficiency

T2 - The spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis

AU - Speckmann, C.

AU - Lehmberg, K.

AU - Albert, M.H.

AU - Damgaard, R.B.

AU - Fritsch, M.

AU - Gyrd-Hansen, M.

AU - Rensing-Ehl, A.

AU - Vraetz, T.

AU - Grimbacher, B.

AU - Salzer, U.

AU - Fuchs, I.

AU - Ufheil, H.

AU - Belohradsky, B.H.

AU - Hassan, A.

AU - Cale, C.M.

AU - Elawad, M.

AU - Strahm, B.

AU - Schibli, S.

AU - Lauten, M.

AU - Kohl, M.

AU - Meerpohl, J.J.

AU - Rodeck, B.

AU - Kolb, R.

AU - Eberl, W.

AU - Soerensen, J.

AU - von Bernuth, H.

AU - Lorenz, M.

AU - Schwarz, Kai-Uwe

AU - zur Stadt, U.

AU - Ehl, S.

PY - 2013/10/1

Y1 - 2013/10/1

N2 - X-linked inhibitor of apoptosis (XIAP) deficiency caused by mutations in BIRC4 was initially described in patients with X-linked lymphoproliferative syndrome (XLP) who had no mutations in SH2D1A. In the initial reports, EBV-associated hemophagocytic lymphohistiocytosis (HLH) was the predominant clinical phenotype. Among 25 symptomatic patients diagnosed with XIAP deficiency, we identified 17 patients who initially presented with manifestations other than HLH. These included Crohn-like bowel disease (n. =. 6), severe infectious mononucleosis (n. =. 4), isolated splenomegaly (n. =. 3), uveitis (n. =. 1), periodic fever (n. =. 1), fistulating skin abscesses (n. =. 1) and severe Giardia enteritis (n. =. 1). Subsequent manifestations included celiac-like disease, antibody deficiency, splenomegaly and partial HLH. Screening by flow cytometry identified 14 of 17 patients in our cohort. However, neither genotype nor protein expression nor results from cell death studies were clearly associated with the clinical phenotype. Only mutation analysis can reliably identify affected patients. XIAP deficiency must be considered in a wide range of clinical presentations.

AB - X-linked inhibitor of apoptosis (XIAP) deficiency caused by mutations in BIRC4 was initially described in patients with X-linked lymphoproliferative syndrome (XLP) who had no mutations in SH2D1A. In the initial reports, EBV-associated hemophagocytic lymphohistiocytosis (HLH) was the predominant clinical phenotype. Among 25 symptomatic patients diagnosed with XIAP deficiency, we identified 17 patients who initially presented with manifestations other than HLH. These included Crohn-like bowel disease (n. =. 6), severe infectious mononucleosis (n. =. 4), isolated splenomegaly (n. =. 3), uveitis (n. =. 1), periodic fever (n. =. 1), fistulating skin abscesses (n. =. 1) and severe Giardia enteritis (n. =. 1). Subsequent manifestations included celiac-like disease, antibody deficiency, splenomegaly and partial HLH. Screening by flow cytometry identified 14 of 17 patients in our cohort. However, neither genotype nor protein expression nor results from cell death studies were clearly associated with the clinical phenotype. Only mutation analysis can reliably identify affected patients. XIAP deficiency must be considered in a wide range of clinical presentations.

UR - http://www.scopus.com/inward/record.url?scp=84883228121&partnerID=8YFLogxK

U2 - 10.1016/j.clim.2013.07.004

DO - 10.1016/j.clim.2013.07.004

M3 - Journal article

C2 - 23973892

AN - SCOPUS:84883228121

VL - 149

SP - 133

EP - 141

JO - Clinical Immunology

JF - Clinical Immunology

SN - 1521-6616

IS - 1

ER -

ID: 88660155