Neuroendocrine carcinoma associated with X-linked hyper-immunoglobulin M syndrome: Report of four cases and review of the literature

M. Erdős, M. Garami, Éva Rákóczi, A. Zalatnai, Daniel Steinbach, Ulrich Baumann, Gabrielle Kropshofer, B. Tóth, L. Máródi

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18 Citations (Scopus)

Abstract

X-linked hyper-immunoglobulin M syndrome (XHIGM) is a primary immunodeficiency disorder characterized by severe defects of both cellular and humoral immunity due to impaired expression of CD40 ligand on activated T lymphocytes. Patients with XHIGM usually present with a wide variety of infections caused by common and opportunistic pathogens including Pneumocystis jirovecii. In addition, subjects with XHIGM have an increased risk for hepatocellular and bile duct carcinomas, which are rarely observed in other primary immunodeficiencies. We present here clinical, immunological, and molecular findings of four patients with CD40 ligand deficiency associated with neuroendocrine carcinoma (NEC). NEC developed as a rapidly disseminated solid cancer leading to death in three patients. Data presented here and published previously suggest that CD40 ligand deficiency may predispose patients for the development of NEC. Histochemical findings suggested that CD56, in addition to cytokeratin and chromogranin A, may be a useful marker for early detection of NEC. We conclude that patients with XHIGM should be carefully followed to diagnose and treat NEC, a formidable neuroendocrine cancer.

Original languageEnglish
Pages (from-to)455-461
Number of pages7
JournalClinical Immunology
Volume129
Issue number3
DOIs
Publication statusPublished - Dec 2008

Fingerprint

Neuroendocrine Carcinoma
Immunoglobulin M
CD40 Ligand
Pneumocystis carinii
Chromogranin A
Humoral Immunity
Keratins
Bile Ducts
Cellular Immunity
Neoplasms
Light Fixation Seizure Syndrome
Carcinoma
T-Lymphocytes
Infection

Keywords

  • CD40 ligand deficiency;
  • Hyper-IgM syndrome;
  • Neuroendocrine carcinoma

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy

Cite this

Neuroendocrine carcinoma associated with X-linked hyper-immunoglobulin M syndrome : Report of four cases and review of the literature. / Erdős, M.; Garami, M.; Rákóczi, Éva; Zalatnai, A.; Steinbach, Daniel; Baumann, Ulrich; Kropshofer, Gabrielle; Tóth, B.; Máródi, L.

In: Clinical Immunology, Vol. 129, No. 3, 12.2008, p. 455-461.

Research output: Contribution to journalArticle

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