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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, K; zur Stadt, Udo; Ehl, S.

In: CLIN IMMUNOL, Vol. 149, No. 1, 01.10.2013, p. 133-41.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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, zur Stadt, U & Ehl, S 2013, 'X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis', CLIN IMMUNOL, vol. 149, no. 1, pp. 133-41. 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. CLIN IMMUNOL, 149(1), 133-41. https://doi.org/10.1016/j.clim.2013.07.004

Vancouver

Speckmann C, Lehmberg K, Albert MH, Damgaard RB, Fritsch M, Gyrd-Hansen M et al. X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis. CLIN IMMUNOL. 2013 Oct 1;149(1):133-41. https://doi.org/10.1016/j.clim.2013.07.004

Bibtex

@article{b12dc5376f4e4ad7b16aec589aa7e361,
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.",
keywords = "Adolescent, Adult, Child, Child, Preschool, Genotype, Humans, Immunologic Deficiency Syndromes, Lymphohistiocytosis, Hemophagocytic, Male, Mutation, Natural Killer T-Cells, Phenotype, X-Linked Inhibitor of Apoptosis Protein, Young Adult",
author = "C Speckmann and K Lehmberg and Albert, {M H} and Damgaard, {R B} 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 Belohradsky, {B H} and A Hassan and Cale, {C M} and M Elawad and B Strahm and S Schibli and M Lauten and M Kohl and Meerpohl, {J J} and B Rodeck and R Kolb and W Eberl and J Soerensen and {von Bernuth}, H and M Lorenz and K Schwarz and {zur Stadt}, Udo and S Ehl",
note = "{\textcopyright} 2013.",
year = "2013",
month = oct,
day = "1",
doi = "10.1016/j.clim.2013.07.004",
language = "English",
volume = "149",
pages = "133--41",
journal = "CLIN IMMUNOL",
issn = "1521-6616",
publisher = "Academic Press Inc.",
number = "1",

}

RIS

TY - JOUR

T1 - X-linked inhibitor of apoptosis (XIAP) deficiency: 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, K

AU - zur Stadt, Udo

AU - Ehl, S

N1 - © 2013.

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.

KW - Adolescent

KW - Adult

KW - Child

KW - Child, Preschool

KW - Genotype

KW - Humans

KW - Immunologic Deficiency Syndromes

KW - Lymphohistiocytosis, Hemophagocytic

KW - Male

KW - Mutation

KW - Natural Killer T-Cells

KW - Phenotype

KW - X-Linked Inhibitor of Apoptosis Protein

KW - Young Adult

U2 - 10.1016/j.clim.2013.07.004

DO - 10.1016/j.clim.2013.07.004

M3 - SCORING: Journal article

C2 - 23973892

VL - 149

SP - 133

EP - 141

JO - CLIN IMMUNOL

JF - CLIN IMMUNOL

SN - 1521-6616

IS - 1

ER -