Download PDF
Klin Padiatr 2013; 225(06): 343-346
DOI: 10.1055/s-0033-1355393
Case Report
© Georg Thieme Verlag KG Stuttgart · New York

Clinical Phenotype and Functional Analysis of a Rare XIAP/BIRC4 Mutation

Klinischer Phänotyp und funktionelle Untersuchung einer seltenen XIAP/BIRC4-Mutation
S. Vieth
1   Department of Pediatrics, UKSH, Campus Lübeck, Germany
,
S. Ammann
2   Centre of Chronic Immunodeficiency, University of Freiburg, Germany
,
K. Schwarz
3   Institute for Transfusion Medicine, University Hospital Ulm, Germany
,
C. Härtel
1   Department of Pediatrics, UKSH, Campus Lübeck, Germany
,
C. Schultz
1   Department of Pediatrics, UKSH, Campus Lübeck, Germany
,
K. Lehmberg
4   Pediatric Hematology and Oncology, University Hospital Eppendorf, Hamburg, Germany
,
M. Lauten
1   Department of Pediatrics, UKSH, Campus Lübeck, Germany
› Author Affiliations
Further Information

Publication History

Publication Date:
28 October 2013 (online)

Also available at
    Permissions and Reprints

Abstract

X-linked lymphoproliferative syndromes (XLP) are rare primary immunodeficiencies. Mutations within the XIAP/BIRC4 gene characterize XLP type 2 and cause XIAP deficiency. We present the case of a 5-year-old boy with a novel mutation of the XIAP/BIRC4 gene and describe the immunological phenotype for the first time. We characterized the distinct immunological phenotype and evaluated the family history accordingly.

Zusammenfassung

Die X-linked lymphoproliferativen Syndrome (XLP) beschreiben seltene primäre Immundefektsyndrome. Mutationen im XIAP/BIRC4-Gen sind dabei verantwortlich für das XLP Typ 2 und führen zur XIAP-Defizienz. Wir beschreiben erstmals den immunologischen Phänotyp eines 5-jährigen Jungen mit einer neuen XIAP/BIRC4-Mutation, deren familiäre Vererbung anhand einer Familientypi­sierung verfolgt werden konnte.

Key words

BIRC4 mutation - XIAP deficiency - hemophagocytic lymphohistiocytosis - X-linked lymphoproliferative syndrome - XLP

Schlüsselwörter

BIRC4-Mutation - XIAP-Defizienz - hämophagozytische Lymphohistiozytose - X-linked lymphoproliferatives Syndrom - XLP
 

  • References

  • 1 Epidemiologisches Bulletin. Berlin: Robert Koch-Institut; 30/ 2012: 284-310
    Google Scholar
  • 2 Bryceson YT, Pende D, Maul-Pavicic A et al. A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes. Blood 2012; 119: 2754-2763
    CrossrefPubMedGoogle Scholar
  • 3 Chellapandian D, Das R, Zelley K et al. Treatment of Epstein Barr virus-induced haemophagocytic lymphohistiocytosis with rituximab-containing chemo-immunotherapeutic regimens. Br J Haematol 2013; DOI: 10.1111/bjh.12386. [Epub ahead of print]
    PubMedGoogle Scholar
  • 4 Filipovich AH, Zhang K, Snow AL et al. X-linked lymphoproliferative syndromes: brothers or distant cousins?. Blood 2010; 116: 3398-3408
    CrossrefPubMedGoogle Scholar
  • 5 Janka G. Hemophagocytic lymphohistiocytosis: when the immune system runs amok. Klin Padiatr 2009; 221: 278-285
    Article in Thieme ConnectPubMedGoogle Scholar
  • 6 Kerzel S, Zemlin M, Komhoff M et al. Hyperferritinemia as the diagnostic clue in life-threatening hemophagocytic lymphohistiocytosis. Klin Padiatr 2009; 221: 318-321
    Article in Thieme ConnectPubMedGoogle Scholar
  • 7 Marsh RA, Bleesing JJ, Filipovich AH. Using flow cytometry to screen patients for X-linked lymphoproliferative disease due to SAP deficiency and XIAP deficiency. J Immunol Methods 2010; 362: 1-9
    CrossrefPubMedGoogle Scholar
  • 8 Marsh RA, Madden L, Kitchen BJ et al. XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease. Blood 2010; 116: 1079-1082
    CrossrefPubMedGoogle Scholar
  • 9 Marsh RA, Rao K, Satwani P et al. Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes. Blood 2013; 121: 877-883
    CrossrefPubMedGoogle Scholar
  • 10 Pachlopnik Schmid J, Canioni D, Moshous D et al. Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). Blood 2011; 117: 1522-1529
    CrossrefPubMedGoogle Scholar
  • 11 Pachlopnik Schmid J, de Saint Basile G. Inherited Hemophagocytic Lymphohistiocytosis (HLH). Klin Padiatr 2010; 222: 345-350
    Article in Thieme ConnectPubMedGoogle Scholar
  • 12 Purtilo DT, Cassel C, Yang JP. Letter: Fatal infectious mononucleosis in familial lymphohistiocytosis. N Engl J Med 1974; 291: 736
    PubMedGoogle Scholar
  • 13 Purtilo DT, Cassel CK, Yang JP et al. X-linked recessive progressive combined variable immunodeficiency (Duncan’s disease). Lancet 1975; 1: 935-940
    PubMedGoogle Scholar
  • 14 Rigaud S, Fondaneche MC, Lambert N et al. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature 2006; 444: 110-114
    CrossrefPubMedGoogle Scholar
  • 15 Speckmann C, Lehmberg K, Albert MH et al. X-linked inhibitor of apoptosis (XIAP) deficiency: The spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis. Clin Immunol 2013; http://dx.doi.org/10.1016/j.clim.2013.07.004
    PubMedGoogle Scholar
  • 16 Zhao M, Kanegane H, Ouchi K et al. A novel XIAP mutation in a Japanese boy with recurrent pancytopenia and splenomegaly. Haematologica 2010; 95: 688-689
    CrossrefPubMedGoogle Scholar