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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

Abstract

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.

Summary

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.

Keywords

Granulomatous-lymphocytic interstitial lung disease 22q11.2 deletion syndrome Common variable immune deficiency Primary immune deficiency Sarcoidosis Autoimmunity 

Abbreviations

22q11.2DS

22q11.2 deletion syndrome

GLILD

Granulomatous-lymphocytic interstitial lung disease

ILD

Interstitial lung disease

CVID

Common variable immune deficiency

PID

Primary immune deficiency

FISH

Fluorescence in situ hybridization

IVIG

Intravenous immunoglobulin

LAD

Lymphadenopathy

PET-CT

Positron emission tomography computed tomography

HRCT

High-resolution CT

VATS

Video-assisted thoracoscopic surgery

DLCO

Diffusion capacity for carbon monoxide

FB

Follicular bronchiolitis

LIP

Lymphoid interstitial pneumonia

6-MP

6-Mercaptopurine

BLF/UK PIN

British Lung Foundation and United Kingdom Primary Immunodeficiency Network

AIHA

Autoimmune hemolytic anemia

ITP

Idiopathic thrombocytopenia purpura

USIDNET

United States Immunodeficiency Network

Notes

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.

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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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