Case Report: Secondary Hemophagocytic Lymphohistiocytosis With Disseminated Infection in Chronic Granulomatous Disease—A Serious Cause of Mortality
Chronic granulomatous disease (CGD) is a primary immune deficiency due to defects in phagocyte respiratory burst leading to severe and life-threatening infections. Patients with CGD also suffer from disorders of inflammation and immune dysregulation including colitis and granulomatous lung disease,...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2020-12-01
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| Series: | Frontiers in Immunology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fimmu.2020.581475/full |
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| author | Jacqueline D. Squire Stephanie N. Vazquez Angela Chan Michele E. Smith Deepak Chellapandian Laura Vose Beatriz Teppa I. Celine Hanson Ivan K. Chinn Lisa Forbes-Satter Filiz O. Seeborg Sarah K. Nicholas Caridad A. Martinez Carl E. Allen Thomas J. Connors Prakash Satwani Maria Shtessel Hanadys Ale Lenora M. Noroski Nicholas L. Rider Joshua D. Milner Jennifer W. Leiding |
| author_facet | Jacqueline D. Squire Stephanie N. Vazquez Angela Chan Michele E. Smith Deepak Chellapandian Laura Vose Beatriz Teppa I. Celine Hanson Ivan K. Chinn Lisa Forbes-Satter Filiz O. Seeborg Sarah K. Nicholas Caridad A. Martinez Carl E. Allen Thomas J. Connors Prakash Satwani Maria Shtessel Hanadys Ale Lenora M. Noroski Nicholas L. Rider Joshua D. Milner Jennifer W. Leiding |
| author_sort | Jacqueline D. Squire |
| collection | DOAJ |
| description | Chronic granulomatous disease (CGD) is a primary immune deficiency due to defects in phagocyte respiratory burst leading to severe and life-threatening infections. Patients with CGD also suffer from disorders of inflammation and immune dysregulation including colitis and granulomatous lung disease, among others. Additionally, patients with CGD may be at increased risk of systemic inflammatory disorders such as hemophagocytic lymphohistiocytosis (HLH). The presentation of HLH often overlaps with symptoms of systemic inflammatory response syndrome (SIRS) or sepsis and therefore can be difficult to identify, especially in patients with a primary immune deficiency in which incidence of infection is increased. Thorough evaluation and empiric treatment for bacterial and fungal infections is necessary as HLH in CGD is almost always secondary to infection. Simultaneous treatment of infection with anti-microbials and inflammation with immunosuppression may be needed to blunt the hyperinflammatory response in secondary HLH. Herein, we present a series of X-linked CGD patients who developed HLH secondary to or with concurrent disseminated CGD-related infection. In two patients, CGD was a known diagnosis prior to development of HLH and in the other two CGD was diagnosed as part of the evaluation for HLH. Concurrent infection and HLH were fatal in three; one case was successfully treated, ultimately receiving hematopoietic stem cell transplantation. The current literature on presentation, diagnosis, and treatment of HLH in CGD is reviewed. |
| first_indexed | 2024-12-13T10:53:03Z |
| format | Article |
| id | doaj.art-a243b13747ed465882ee82108cd8ddc5 |
| institution | Directory Open Access Journal |
| issn | 1664-3224 |
| language | English |
| last_indexed | 2024-12-13T10:53:03Z |
| publishDate | 2020-12-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Immunology |
| spelling | doaj.art-a243b13747ed465882ee82108cd8ddc52022-12-21T23:49:45ZengFrontiers Media S.A.Frontiers in Immunology1664-32242020-12-011110.3389/fimmu.2020.581475581475Case Report: Secondary Hemophagocytic Lymphohistiocytosis With Disseminated Infection in Chronic Granulomatous Disease—A Serious Cause of MortalityJacqueline D. Squire0Stephanie N. Vazquez1Angela Chan2Michele E. Smith3Deepak Chellapandian4Laura Vose5Beatriz Teppa6I. Celine Hanson7Ivan K. Chinn8Lisa Forbes-Satter9Filiz O. Seeborg10Sarah K. Nicholas11Caridad A. Martinez12Carl E. Allen13Thomas J. Connors14Prakash Satwani15Maria Shtessel16Hanadys Ale17Lenora M. Noroski18Nicholas L. Rider19Joshua D. Milner20Jennifer W. Leiding21Division of Allergy and Immunology, Department of Pediatrics, University of South Florida, St. Petersburg, FL, United StatesGraduate Medical Education, Memorial Healthcare System, Hollywood, FL, United StatesDivision of Allergy/Immunology and Rheumatology, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, United StatesDivision of Critical Care Medicine, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, United StatesBlood and Marrow Transplant, Johns Hopkins—All Children’s Hospital, St. Petersburg, FL, United StatesCritical Care Medicine, Johns Hopkins—All Children’s Hospital, St. Petersburg, FL, United StatesCritical Care Medicine, Johns Hopkins—All Children’s Hospital, St. Petersburg, FL, United StatesSections of Immunology Allergy and Retrovirology, Baylor College of Medicine and Texas Children’s Hospital, Houston, TX, United StatesSections of Immunology Allergy and Retrovirology, Baylor College of Medicine and Texas Children’s Hospital, Houston, TX, United StatesSections of Immunology Allergy and Retrovirology, Baylor College of Medicine and Texas Children’s Hospital, Houston, TX, United StatesSections of Immunology Allergy and Retrovirology, Baylor College of Medicine and Texas Children’s Hospital, Houston, TX, United StatesSections of Immunology Allergy and Retrovirology, Baylor College of Medicine and Texas Children’s Hospital, Houston, TX, United StatesDivision of Pediatric Hematology/Oncology, Texas Children’s Hospital Cancer Center, Houston, TX, United StatesDivision of Pediatric Hematology/Oncology, Texas Children’s Hospital Cancer Center, Houston, TX, United StatesDivision of Critical Care Medicine, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, United StatesDivision of Hematology/Oncology, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, United StatesDivision of Allergy/Immunology and Rheumatology, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, United States0Division of Allergy and Immunology, Joe DiMaggio Children’s Hospital, Hollywood, FL, United StatesSections of Immunology Allergy and Retrovirology, Baylor College of Medicine and Texas Children’s Hospital, Houston, TX, United StatesSections of Immunology Allergy and Retrovirology, Baylor College of Medicine and Texas Children’s Hospital, Houston, TX, United StatesDivision of Allergy/Immunology and Rheumatology, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, United StatesDivision of Allergy and Immunology, Department of Pediatrics, University of South Florida, St. Petersburg, FL, United StatesChronic granulomatous disease (CGD) is a primary immune deficiency due to defects in phagocyte respiratory burst leading to severe and life-threatening infections. Patients with CGD also suffer from disorders of inflammation and immune dysregulation including colitis and granulomatous lung disease, among others. Additionally, patients with CGD may be at increased risk of systemic inflammatory disorders such as hemophagocytic lymphohistiocytosis (HLH). The presentation of HLH often overlaps with symptoms of systemic inflammatory response syndrome (SIRS) or sepsis and therefore can be difficult to identify, especially in patients with a primary immune deficiency in which incidence of infection is increased. Thorough evaluation and empiric treatment for bacterial and fungal infections is necessary as HLH in CGD is almost always secondary to infection. Simultaneous treatment of infection with anti-microbials and inflammation with immunosuppression may be needed to blunt the hyperinflammatory response in secondary HLH. Herein, we present a series of X-linked CGD patients who developed HLH secondary to or with concurrent disseminated CGD-related infection. In two patients, CGD was a known diagnosis prior to development of HLH and in the other two CGD was diagnosed as part of the evaluation for HLH. Concurrent infection and HLH were fatal in three; one case was successfully treated, ultimately receiving hematopoietic stem cell transplantation. The current literature on presentation, diagnosis, and treatment of HLH in CGD is reviewed.https://www.frontiersin.org/articles/10.3389/fimmu.2020.581475/fullchronic granulomatous diseasehemophagocytic lymphohistiocytosissepsisinflammationcase reportinfection |
| spellingShingle | Jacqueline D. Squire Stephanie N. Vazquez Angela Chan Michele E. Smith Deepak Chellapandian Laura Vose Beatriz Teppa I. Celine Hanson Ivan K. Chinn Lisa Forbes-Satter Filiz O. Seeborg Sarah K. Nicholas Caridad A. Martinez Carl E. Allen Thomas J. Connors Prakash Satwani Maria Shtessel Hanadys Ale Lenora M. Noroski Nicholas L. Rider Joshua D. Milner Jennifer W. Leiding Case Report: Secondary Hemophagocytic Lymphohistiocytosis With Disseminated Infection in Chronic Granulomatous Disease—A Serious Cause of Mortality Frontiers in Immunology chronic granulomatous disease hemophagocytic lymphohistiocytosis sepsis inflammation case report infection |
| title | Case Report: Secondary Hemophagocytic Lymphohistiocytosis With Disseminated Infection in Chronic Granulomatous Disease—A Serious Cause of Mortality |
| title_full | Case Report: Secondary Hemophagocytic Lymphohistiocytosis With Disseminated Infection in Chronic Granulomatous Disease—A Serious Cause of Mortality |
| title_fullStr | Case Report: Secondary Hemophagocytic Lymphohistiocytosis With Disseminated Infection in Chronic Granulomatous Disease—A Serious Cause of Mortality |
| title_full_unstemmed | Case Report: Secondary Hemophagocytic Lymphohistiocytosis With Disseminated Infection in Chronic Granulomatous Disease—A Serious Cause of Mortality |
| title_short | Case Report: Secondary Hemophagocytic Lymphohistiocytosis With Disseminated Infection in Chronic Granulomatous Disease—A Serious Cause of Mortality |
| title_sort | case report secondary hemophagocytic lymphohistiocytosis with disseminated infection in chronic granulomatous disease a serious cause of mortality |
| topic | chronic granulomatous disease hemophagocytic lymphohistiocytosis sepsis inflammation case report infection |
| url | https://www.frontiersin.org/articles/10.3389/fimmu.2020.581475/full |
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