IL12Rß1 defect presenting with massive intra-abdominal lymphadenopathy due to Mycobacterium intracellulare infection.
Asian Pac J Allergy Immunol
; 35(3): 161-165, 2017 Sep.
Article
em En
| MEDLINE
| ID: mdl-27996281
ABSTRACT
Infections due to non-tuberculous mycobacteria species are problematic for immunodeficient individuals. Mendelian susceptibility to mycobacterial diseases (MSMD) defines a group of genetic defects affecting cellular interactions and the interferon (IFN)-γ pathway. Patients with MSMD may present with a disseminated infection resulting from the Bacillus Calmette-Guerin vaccine, Mycobacterium tuberculosis complex, environmental nontuberculous mycobacteria or Salmonella species. Atypical mycobacterial infections and deficient granuloma or giant cell formation are important indicators for MSMD, especially in patients with a family history of parental consanguineous marriage. Herein we report the case of a boy with an IL-12Rß1 defect who presented with massive intraabdominal lymphadenopathy due to Mycobacterium intracellulare infection. The patient was born to consanguineous parents, both heterozygous for the IL-12Rß1 defect mutation. Debulking surgery was planned in order to decrease the abdominal mass, but could not be performed due to a high risk of fatal outcomes. He has been receiving linezolid, levofloxacin, azithromycin, rifabutin and IFN-γ therapy for the past 14 months. At follow-up, the patient showed significant clinical improvement and weight gain.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Infecção por Mycobacterium avium-intracellulare
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Suscetibilidade a Doenças
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Receptores de Interleucina-12
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Linfadenopatia
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
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Humans
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Male
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article