Literature DB >> 29470661

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

Amika K Sood1,2, William Funkhouser3, Brian Handly4, Brent Weston5, Eveline Y Wu6.   

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. 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.

Entities:  

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

Mesh:

Year:  2018        PMID: 29470661      PMCID: PMC5935501          DOI: 10.1007/s11882-018-0769-7

Source DB:  PubMed          Journal:  Curr Allergy Asthma Rep        ISSN: 1529-7322            Impact factor:   4.806


  41 in total

1.  Caseating granulomatous disease in common variable immunodeficiency treated with infliximab.

Authors:  Ammar Z Hatab; Zuhair K Ballas
Journal:  J Allergy Clin Immunol       Date:  2005-10-10       Impact factor: 10.793

2.  TNF and lymphotoxin-alpha polymorphisms associated with common variable immunodeficiency: role in the pathogenesis of granulomatous disease.

Authors:  C G Mullighan; G C Fanning; H M Chapel; K I Welsh
Journal:  J Immunol       Date:  1997-12-15       Impact factor: 5.422

3.  Granulomatous-lymphocytic interstitial lung disease as the first manifestation of common variable immunodeficiency.

Authors:  Basheer Tashtoush; Roya Memarpour; Jose Ramirez; Pablo Bejarano; Jinesh Mehta
Journal:  Clin Respir J       Date:  2016-06-22       Impact factor: 2.570

4.  Mutation of TNFRSF13B in a child with 22q11 deletion syndrome associated with granulomatous lymphoproliferation.

Authors:  Michael W Mather; Hannah Hayhurst; Chris M Bacon; Theresa S Cole; Qiang Pan-Hammarström; Siraj Misbah; Andrew R Gennery
Journal:  J Allergy Clin Immunol       Date:  2014-08-28       Impact factor: 10.793

5.  FDG PET-CT imaging of therapeutic response in granulomatous lymphocytic interstitial lung disease (GLILD) in common variable immunodeficiency (CVID).

Authors:  S Jolles; E Carne; M Brouns; T El-Shanawany; P Williams; C Marshall; P Fielding
Journal:  Clin Exp Immunol       Date:  2016-11-28       Impact factor: 4.330

6.  Lung diseases in patients with common variable immunodeficiency: chest radiographic, and computed tomographic findings.

Authors:  Nobuyuki Tanaka; Jeung Sook Kim; Christopher A Bates; Kevin K Brown; Carlyne D Cool; John D Newell; David A Lynch
Journal:  J Comput Assist Tomogr       Date:  2006 Sep-Oct       Impact factor: 1.826

7.  AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy.

Authors:  Bernice Lo; Kejian Zhang; Wei Lu; Lixin Zheng; Qian Zhang; Chrysi Kanellopoulou; Yu Zhang; Zhiduo Liu; Jill M Fritz; Rebecca Marsh; Ammar Husami; Diane Kissell; Shannon Nortman; Vijaya Chaturvedi; Hilary Haines; Lisa R Young; Jun Mo; Alexandra H Filipovich; Jack J Bleesing; Peter Mustillo; Michael Stephens; Cesar M Rueda; Claire A Chougnet; Kasper Hoebe; Joshua McElwee; Jason D Hughes; Elif Karakoc-Aydiner; Helen F Matthews; Susan Price; Helen C Su; V Koneti Rao; Michael J Lenardo; Michael B Jordan
Journal:  Science       Date:  2015-07-24       Impact factor: 47.728

8.  Misdiagnosis of common variable immune deficiency.

Authors:  Anne-Marie Shanks; Ratna Alluri; Richard Herriot; Owen Dempsey
Journal:  BMJ Case Rep       Date:  2014-04-01

Review 9.  British Lung Foundation/United Kingdom Primary Immunodeficiency Network Consensus Statement on the Definition, Diagnosis, and Management of Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency Disorders.

Authors:  John R Hurst; Nisha Verma; David Lowe; Helen E Baxendale; Stephen Jolles; Peter Kelleher; Hilary J Longhurst; Smita Y Patel; Elisabetta A Renzoni; Clare R Sander; Gerard R Avery; Judith L Babar; Matthew S Buckland; Siobhan Burns; William Egner; Mark M Gompels; Pavels Gordins; Jamanda A Haddock; Simon P Hart; Grant R Hayman; Richard Herriot; Rachel K Hoyles; Aarnoud P Huissoon; Joseph Jacob; Andrew G Nicholson; Doris M Rassl; Ravishankar B Sargur; Sinisa Savic; Suranjith L Seneviratne; Michael Sheaff; Prashantha M Vaitla; Gareth I Walters; Joanna L Whitehouse; Penny A Wright; Alison M Condliffe
Journal:  J Allergy Clin Immunol Pract       Date:  2017-03-25

10.  Possible role of human herpesvirus 8 in the lymphoproliferative disorders in common variable immunodeficiency.

Authors:  William H Wheat; Carlyne D Cool; Yoshikazu Morimoto; Pradeep R Rai; Charles H Kirkpatrick; Barbara A Lindenbaum; Christopher A Bates; Misoo C Ellison; Amanda E Serls; Kevin K Brown; John M Routes
Journal:  J Exp Med       Date:  2005-08-15       Impact factor: 14.307

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  6 in total

Review 1.  Lymphoproliferation in Inborn Errors of Immunity: The Eye Does Not See What the Mind Does Not Know.

Authors:  Saniya Sharma; Rakesh Kumar Pilania; Gummadi Anjani; Murugan Sudhakar; Kanika Arora; Rahul Tyagi; Manpreet Dhaliwal; Pandiarajan Vignesh; Amit Rawat; Surjit Singh
Journal:  Front Immunol       Date:  2022-05-04       Impact factor: 8.786

2.  Human immunodeficiency virus-associated vacuolar encephalomyelopathy with granulomatous-lymphocytic interstitial lung disease improved after antiretroviral therapy: a case report.

Authors:  Kazumasa Akagi; Kazuko Yamamoto; Asuka Umemura; Shotaro Ide; Tatsuro Hirayama; Takahiro Takazono; Yoshifumi Imamura; Taiga Miyazaki; Noriho Sakamoto; Hirokazu Shiraishi; Hideaki Takahata; Yoshiaki Zaizen; Junya Fukuoka; Minoru Morikawa; Kazuto Ashizawa; Katsuji Teruya; Koichi Izumikawa; Hiroshi Mukae
Journal:  AIDS Res Ther       Date:  2020-07-09       Impact factor: 2.250

Review 3.  Histology of Interstitial Lung Disease in Common Variable Immune Deficiency.

Authors:  Fatima Dhalla; Dylan J Mac Lochlainn; Helen Chapel; Smita Y Patel
Journal:  Front Immunol       Date:  2020-11-20       Impact factor: 7.561

4.  Managing Granulomatous-Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency Disorders: e-GLILDnet International Clinicians Survey.

Authors:  Annick A J M van de Ven; Tiago M Alfaro; Alexandra Robinson; Ulrich Baumann; Anne Bergeron; Siobhan O Burns; Alison M Condliffe; Børre Fevang; Andrew R Gennery; Filomeen Haerynck; Joseph Jacob; Stephen Jolles; Marion Malphettes; Véronique Meignin; Tomas Milota; Joris van Montfrans; Antje Prasse; Isabella Quinti; Elisabetta Renzoni; Daiana Stolz; Klaus Warnatz; John R Hurst
Journal:  Front Immunol       Date:  2020-11-26       Impact factor: 7.561

5.  Interstitial Lung Disease in Children With Selected Primary Immunodeficiency Disorders-A Multicenter Observational Study.

Authors:  Małgorzata Pac; Teresa Bielecka; Katarzyna Grzela; Justyna Komarnicka; Renata Langfort; Sylwia Koltan; Nel Dabrowska-Leonik; Katarzyna Bernat-Sitarz; Maciej Pronicki; Hanna Dmenska; Anna Pituch-Noworolska; Bozena Mikoluc; Barbara Piatosa; Katarzyna Tkaczyk; Ewa Bernatowska; Irena Wojsyk-Banaszak; Katarzyna Krenke
Journal:  Front Immunol       Date:  2020-08-27       Impact factor: 7.561

6.  Treatment Strategies for GLILD in Common Variable Immunodeficiency: A Systematic Review.

Authors:  Olivia A C Lamers; Bas M Smits; Helen Louisa Leavis; Godelieve J de Bree; Charlotte Cunningham-Rundles; Virgil A S H Dalm; Hsi-En Ho; John R Hurst; Hanna IJspeert; Sabine M P J Prevaes; Alex Robinson; Astrid C van Stigt; Suzanne Terheggen-Lagro; Annick A J M van de Ven; Klaus Warnatz; Janneke H H M van de Wijgert; Joris van Montfrans
Journal:  Front Immunol       Date:  2021-04-15       Impact factor: 7.561

  6 in total

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