Dataset Information

Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN-? receptor-1 deficiency.

ABSTRACT: Interferon-? receptor-1 (IFN?R1) deficiency is caused by mutations in the IFN?R1 gene and is characterized mainly by susceptibility to mycobacterial disease. Herein, we report an 8-month-old boy with complete recessive IFN?R1 deficiency, afflicted by recurrent mycobacterial diseases with Mycobacterium bovis, Mycobacterium tuberculosis, Mycobacterium avium intracellulare and Mycobacterium fortuitum. Genetic analysis showed a homozygous mutation (106insT) in the IFN?R1 gene leading to complete IFN?R1 deficiency. In addition, he had atypical mycobacterial skin lesions caused by M. avium intracellulare and developed scrotal and lower limb lymphedema secondary to compression of large and fixed inguinal lymphadenopathies. Hematopoietic stem cell transplantation was performed from a matched unrelated donor at 5 years of age; however, he died at 9 months post-transplant. To our knowledge, the patient is the first case with IL-12/IFN-? pathway defect and severe lymphedema. We have also reviewed and summarized the literature related with IFN?R1 deficiency.

SUBMITTER: Edeer Karaca N

PROVIDER: S-EPMC3727650 | biostudies-literature | 2012 Nov

REPOSITORIES: biostudies-literature

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Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN-γ receptor-1 deficiency.

Edeer Karaca Neslihan N Boisson-Dupuis Stephanie S Aksu Güzide G Bustamante Jacinta J Kandiloglu Gulsen G Ozsan Nazan N Hekimgil Mine M Casanova Jean-Laurent JL Kutukculer Necil N

Immunotherapy 20121101 11

Interferon-γ receptor-1 (IFNγR1) deficiency is caused by mutations in the IFNγR1 gene and is characterized mainly by susceptibility to mycobacterial disease. Herein, we report an 8-month-old boy with complete recessive IFNγR1 deficiency, afflicted by recurrent mycobacterial diseases with Mycobacterium bovis, Mycobacterium tuberculosis, Mycobacterium avium intracellulare and Mycobacterium fortuitum. Genetic analysis showed a homozygous mutation (106insT) in the IFNγR1 gene leading to complete IFN ...[more]

PMID: 23194362

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Project description:BACKGROUND:Chronic edema (CO) is a progressive, physically disfiguring and currently incurable condition. A multifaceted program has been recommended to manage the swelling. However, there is little evidence investigating patients' perspectives following the program, particularly for those who have poor adherence and/or are disengaged. AIM:To investigate the perceived challenges faced by disengaged participants with lower limb CO by identifying their enablers and barriers to participating in a Physiotherapy CO program. METHOD:An exploratory qualitative approach was used. A purposive sampling strategy was adopted to recruit participants. Those with more than three months swelling and who had low adherence and/or attendance (disengaged) to the CO program were invited to participate. Semi-structured interviews with six participants from a CO clinic in a tertiary hospital were conducted. Data were thematically analyzed and findings in terms of enablers and barriers were subsequently reflected in the light of a theoretical framework. RESULTS:All six participants were morbidly obese (BMI 47 ± 4 kg/m2) with multiple chronic comorbidities. Enablers and barriers detected included physical, psychological and social factors that interplay to present multidimensional challenges that influence the participants' adjustment to managing their CO. For the disengaged participants in this study, their under-managed lower limb CO was a progression towards being housebound and having a gradually increasing level of disability. CONCLUSION:This study has identified the multidimensional challenges faced by low adherent and/or disengaged participants with lower limb CO to participating in a hospital-based CO program. Perceived enablers and barriers included physical, psychological and social factors. These were mapped using a health behavior change theoretical framework. Understanding these challenges has implications for developing a multidisciplinary approach aimed at enhancing patient engagement and participation in the physiotherapy CO program.

Dataset Information

Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN-? receptor-1 deficiency.

Publications

Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN-γ receptor-1 deficiency.

Similar Datasets

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