Granulomatous-Lymphocytic Interstitial Lung Disease in 22q11.2 Deletion Syndrome: a Case Report and Literature Review
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Purpose of Review
Granulomatous-lymphocytic interstitial lung disease (GLILD) has classically been associated with common variable immune deficiency (CVID), but is increasingly being reported in other immunodeficiencies. We describe the second reported case of GLILD in a patient with 22q11.2 deletion syndrome (22q11.2DS) and review the recent literature surrounding GLILD.
GLILD is characterized by granulomata and lymphoproliferation. Consensus statements and retrospective and case-control studies have better elucidated the clinicopathological and radiographic manifestations of GLILD, allowing for its differentiation from similar conditions like sarcoidosis. Gaps of knowledge remain, however, particularly regarding optimal management strategies. Combination therapies targeting T and B cell populations have recently shown favorable results.
GLILD is associated with poorer outcomes in CVID. Its recognition as a rare complication of 22q11.2DS and other immunodeficiencies therefore has important therapeutic and prognostic implications. Additional research is needed to better understand the natural history and pathogenesis of GLILD and to develop evidence-based practice guidelines.
KeywordsGranulomatous-lymphocytic interstitial lung disease 22q11.2 deletion syndrome Common variable immune deficiency Primary immune deficiency Sarcoidosis Autoimmunity
22q11.2 deletion syndrome
Granulomatous-lymphocytic interstitial lung disease
Interstitial lung disease
Common variable immune deficiency
Primary immune deficiency
Fluorescence in situ hybridization
Positron emission tomography computed tomography
Video-assisted thoracoscopic surgery
Diffusion capacity for carbon monoxide
Lymphoid interstitial pneumonia
- BLF/UK PIN
British Lung Foundation and United Kingdom Primary Immunodeficiency Network
Autoimmune hemolytic anemia
Idiopathic thrombocytopenia purpura
United States Immunodeficiency Network
Compliance with Ethical Standards
Conflict of Interest
The authors declare no conflicts of interest relevant to this manuscript.
Human and Animal Rights and Informed Consent
This article does not contain any studies with human or animal subjects performed by any of the authors.
Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance
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