Granulomatous-Lymphocytic Interstitial Lung Disease in 22q11.2 Deletion Syndrome: a Case Report and Literature Review

  • Amika K. Sood
  • William Funkhouser
  • Brian Handly
  • Brent Weston
  • Eveline Y. Wu
Autoimmunity (TK Tarrant, Section Editor)
Part of the following topical collections:
  1. Topical Collection on Autoimmunity


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.

Recent Findings

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.


Granulomatous-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


Intravenous immunoglobulin




Positron emission tomography computed tomography


High-resolution CT


Video-assisted thoracoscopic surgery


Diffusion capacity for carbon monoxide


Follicular bronchiolitis


Lymphoid interstitial pneumonia




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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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • Amika K. Sood
    • 1
    • 2
  • William Funkhouser
    • 3
  • Brian Handly
    • 4
  • Brent Weston
    • 5
  • Eveline Y. Wu
    • 1
  1. 1.Department of Pediatrics, Division of Allergy, Immunology, and RheumatologyUniversity of North CarolinaChapel HillUSA
  2. 2.Center for Environmental Medicine, Asthma and Lung BiologyUniversity of North Carolina at Chapel HillChapel HillUSA
  3. 3.Deparment of Pathology and Laboratory MedicineUniversity of North CarolinaChapel HillUSA
  4. 4.Department of RadiologyUniversity of North CarolinaChapel HillUSA
  5. 5.Department of Pediatrics, Division of Hematology-OncologyUniversity of North CarolinaChapel HillUSA

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