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

Conn Med. 2012 Jan;76(1):15-8.

Abstract

Granulomatous 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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Adolescent
  • Common Variable Immunodeficiency / complications
  • Common Variable Immunodeficiency / diagnosis*
  • Face / abnormalities
  • Female
  • Granuloma / complications
  • Granuloma / diagnosis*
  • Hematologic Diseases / complications
  • Hematologic Diseases / diagnosis*
  • Humans
  • Lung Diseases, Interstitial / complications
  • Lung Diseases, Interstitial / diagnosis*
  • Vestibular Diseases / complications
  • Vestibular Diseases / diagnosis*

Supplementary concepts

  • Kabuki syndrome