Abstract:
:Interferon-γ receptor 1 (IFN-γR1) deficiency is one of the primary immunodeficiencies conferring Mendelian Susceptibility to Mycobacterial Disease (MSMD). Some cases of neoplasms have been recently reported in patients with MSMD, underlying the already known link between immunodeficiency and carcinogenesis. We report the first case of intracranial tumour, i.e. pineal germinoma, in a 11-year-old patient with complete IFN-γR1 deficiency. The first clinical presentation of the genetic immunodeficiency dates back to when the child was aged 2 y and 10 mo, when he presented a multi-focal osteomyelitis caused by Mycobacterium scrofulaceum. The diagnosis of IFN-γR1 deficiency (523delT/523delT in IFNGR1 gene) was subsequently made. The child responded to antibiotic therapy and remained in stable clinical condition until the age of 11 years, when he started complaining of frontal, chronic headache. MRI revealed a solid pineal region mass lesion measuring 20 × 29 × 36 mm. Histological findings revealed a diagnosis of pineal germinoma. The patient received chemotherapy followed by local whole ventricular irradiation with boost on pineal site, experiencing complete remission, and to date he is tumor-free at four years follow-up. Four other cases of tumors have been reported in patients affected by MSMD in our knowledge: a case of Kaposi sarcoma, a case of B-cell lymphoma, a case of cutaneous squamous cell carcinoma and a case of oesophageal squamous cell carcinoma. In conclusion, in patients with MSMD, not only the surveillance of infectious diseases, but also that of tumors is important.
journal_name
J Clin Immunoljournal_title
Journal of clinical immunologyauthors
Taramasso L,Boisson-Dupuis S,Garrè ML,Bondi E,Cama A,Nozza P,Morana G,Casanova JL,Marazzi MGdoi
10.1007/s10875-014-0098-0subject
Has Abstractpub_date
2014-11-01 00:00:00pages
922-7issue
8eissn
0271-9142issn
1573-2592journal_volume
34pub_type
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journal_title:Journal of clinical immunology
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journal_title:Journal of clinical immunology
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journal_title:Journal of clinical immunology
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journal_title:Journal of clinical immunology
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journal_title:Journal of clinical immunology
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