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

TitleAn 18-year-old woman with Kabuki syndrome, immunoglobulin deficiency and granulomatous lymphocytic interstitial lung disease.
Publication TypeJournal Article
Year of Publication2012
AuthorsDe Dios JAA, Javaid AA, Ballesteros E, Metersky ML
JournalConn Med
Volume76
Issue1
Pagination15-8
Date Published2012 Jan
ISSN0010-6178
KeywordsAbnormalities, Multiple, Adolescent, Common Variable Immunodeficiency, Face, Female, Granuloma, Hematologic Diseases, Humans, Lung Diseases, Interstitial, Vestibular Diseases
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.
Alternate JournalConn Med
Citation Key1108
PubMed ID22372173