• Connecticut medicine · Jan 2012

    Case Reports

    An 18-year-old woman with Kabuki syndrome, immunoglobulin deficiency and granulomatous lymphocytic interstitial lung disease.

    • Jose Angelo A De Dios, Adnan A Javaid, Enrique Ballesteros, and Mark L Metersky.
    • Division of Pulmonary and Critical Care Medicine, University of Connecticut Health Center, Farmington, USA.
    • Conn Med. 2012 Jan 1;76(1):15-8.

    AbstractGranulomatous lymphocytic interstitial lung disease, or GLILD, is an uncommon condition associated with common variable immunodeficiency (CVID). We present an interesting case of an 18-year-old woman with Kabuki syndrome and CVID who was seen in our clinic for an abnormal chest CT scan. She was subsequently diagnosed with GLILD. There are no established guidelines for the treatment of GLILD in CVID. Immune globulin replacement therapy is the main treatment for CVID and higher doses of intravenous immunoglobulin (IVIG) may prevent the progression of chronic lung disease. Patients with CVID and GLILD are at increased risk for malignancy and their prognosis is worse compared to patients with CVID without GLILD.

      Pubmed     Copy Citation     Plaintext  

      Add institutional full text...

    Notes

     
    Knowledge, pearl, summary or comment to share?
    300 characters remaining
    help        
    You can also include formatting, links, images and footnotes in your notes
    • Simple formatting can be added to notes, such as *italics*, _underline_ or **bold**.
    • Superscript can be denoted by <sup>text</sup> and subscript <sub>text</sub>.
    • Numbered or bulleted lists can be created using either numbered lines 1. 2. 3., hyphens - or asterisks *.
    • Links can be included with: [my link to pubmed](http://pubmed.com)
    • Images can be included with: ![alt text](https://bestmedicaljournal.com/study_graph.jpg "Image Title Text")
    • For footnotes use [^1](This is a footnote.) inline.
    • Or use an inline reference [^1] to refer to a longer footnote elseweher in the document [^1]: This is a long footnote..

    hide…