Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.
ADVANCED SEARCH
Log in
Top
Journal of Clinical Immunology
Published in: Journal of Clinical Immunology 7/2021

01-10-2021 | Stem Cell Transplantion | Original Article

Haematopoietic Stem Cell Transplant for Norovirus-Induced Intestinal Failure in X-linked Agammaglobulinemia

Authors: Ben M. J. Shillitoe, Mark Ponsford, Mary A. Slatter, Jennifer Evans, Siske Struik, Mike Cosgrove, Iolo Doull, Stephen Jolles, Andrew R. Gennery

Published in: Journal of Clinical Immunology | Issue 7/2021

Login to get access

Abstract

Since the first clinical description in 1952, immunoglobulin replacement therapy remains the mainstay of treatment of patients with X-linked agammaglobulinemia (XLA). However, this therapy only replaces IgG isotype and does not compensate for the loss of Bruton tyrosine kinase in non-B-lymphocytes. Patients may still therefore develop complications despite current standard of care. Here, we describe an XLA patient with persistent chronic norovirus infection, refractory to treatment and causing intestinal failure. The patient underwent haematopoietic stem cell transplantation, curing XLA and allowed clearance of norovirus prior to humoral immunoreconstitution, suggesting non-humoral immunodeficiency in these patients.
Literature
1.
2.
Carne E, Ponsford M, El-Shanawany T, Williams P, Pickersgill T, Jolles S. Five years of self-administered hyaluronidase facilitated subcutaneous immunoglobulin (fSCIg) home therapy in a patient with primary immunodeficiency: Figure 1. J Clin Pathol. 2015;69(1):jclinpath-2015–202901–3.
3.
Jolles S, Orange JS, Gardulf A, Stein MR, Shapiro R, Borte M, et al. Current treatment options with immunoglobulin G for the individualization of care in patients with primary immunodeficiency disease. Clin Exp Immunol. 2015;179(2):146–60.CrossRef
4.
Conley ME, Rohrer J, Rapalus L, Boylin EC, Minegishi Y. Defects in early B-cell development: comparing the consequences of abnormalities in pre-BCR signaling in the human and the mouse. Immunol Rev. 2000;178(1):75–90.CrossRef
5.
LoGalbo PR, Sampson HA, Buckley RH. Symptomatic giardiasis in three patients with X-linked agammaglobulinemia. J Pediatr. 1982;101(1):78–80.CrossRef
6.
Linnemann CC Jr, May DB, Schubert WK, Caraway CT, Schiff GM. Fatal viral encephalitis in children with X-linked hypogammaglobulinemia. Am J Dis Child. 1973;126(1):100–3.PubMed
7.
Farrar JE, Rohrer J, Conley ME. Neutropenia in X-linked agammaglobulinemia. Clin Immunol Immunopathol. 1996;81(3):271–6.CrossRef
8.
Conley ME, Rohrer J, Minegishi Y. X-linked agammaglobulinemia. Clin Rev Allergy Immunol. 2000;19(2):183–204.CrossRef
9.
Lougaris V, Soresina A, Baronio M, Montin D, Martino S, Signa S, et al. Long-term follow-up of 168 patients with X-linked agammaglobulinemia reveals increased morbidity and mortality. J Allergy Clin Immunol. 2020;146(2):429–37.CrossRef
10.
Sperlich JM, Grimbacher B, Workman S, Haque T, Seneviratne SL, Burns SO, et al. Respiratory infections and antibiotic usage in common variable immunodeficiency. J Allergy Clin Immunol Pract. 2018;6(1):159-168.e3.CrossRef
11.
Woodward J, Gkrania-Klotsas E, Kumararatne D. Chronic norovirus infection and common variable immunodeficiency. Vol. 188, Clinical and Experimental Immunology. Blackwell Publishing Ltd; 2017. p. 363–70.
12.
Kempf B, Edgar JD, Mc Caughey C, Devlin LA. Nitazoxanide is an ineffective treatment of chronic norovirus in patients with X-linked agammaglobulinemia and may yield false-negative polymerase chain reaction findings in stool specimens. J Infect Dis. 2017;215(3):486–7.CrossRef
13.
Aadam Z, Kechout N, Barakat A, Chan K-W, Ben-Ali M, Ben-Mustapha L, et al. X-linked agammagobulinemia in a large series of North African patients: frequency, clinical features and novel BTK mutations. J Clin Immunol. 2016.
14.
Brown L-AKAK, Clark I, Brown JR, Breuer J, David L, Lowe M, et al. Norovirus infection in primary immune deficiency. Rev Med Virol. 2017;27(3):e1926.CrossRef
15.
De Ravin SS, Wu X, Moir S, Anaya-Obrien S, Kwatemaa N, Littel P, et al. Lentiviral hematopoietic stem cell gene therapy for X-linked severe combined immunodeficiency. Sci Transl Med. 2016;8:335ra57.CrossRef
16.
Huang X, Shi H, Guo N, Lu D. [Allogeneic bone marrow transplantation for the treatment of Bruton disease] (Chinese). Zhonghua Xue Ye Xue Za Zhi. 2002;23:528–30.PubMed
17.
Wan D, Liu C, Wang G, Sun H, Sun L, Jiang Z, et al. [Successful treatment of agammaglobulinemia by HLA-mismatched unrelated cord blood stem cell transplantation–the first case report] (Chinese). Zhonghua Xue Ye Xue Za Zhi. 2005;26:401–3.PubMed
18.
Abu-Arja RF, Chernin LR, Abusin G, Auletta J, Cabral L, Egler R, et al. Successful hematopoietic cell transplantation in a patient with X-linked agammaglobulinemia and acute myeloid leukemia. Pediatr Blood Cancer. 2015;62(9):1674–6.CrossRef
19.
Ikegame K, Imai K, Yamashita M, Hoshino A, Kanegane H, Morio T, et al. Allogeneic stem cell transplantation for X-linked agammaglobulinemia using reduced intensity conditioning as a model of the reconstitution of humoral immunity. J Hematol Oncol. 2016;9:9.CrossRef
20.
van Zelm MC, Pumar M, Shuttleworth P, Aui PM, Smart JM, Grigg A, et al. Functional antibody responses following allogeneic stem cell transplantation for TP53 mutant pre-B-ALL in a patient with X-linked agammaglobulinemia. Front Immunol. 2019;10
21.
Nie L, Su T, Yang K-T, Zhao L, Hu J, Yang S-H, et al. Peripheral blood stem cell transplantation from HLA-mismatched unrelated donor or haploidentical donor for the treatment of X-linked agammaglobulinemia. Zhongguo Dang Dai Er Ke Za Zhi Chin J Contemp Pediatr. 2020;22(8):821–7.
22.
Swaminathan VV, Uppuluri R, Patel S, Ramanan KM, Ravichandran N, Jayakumar L, et al. Treosulfan-based reduced toxicity hematopoietic stem cell transplantation in X-linked agammaglobulinemia: a cost-effective alternative to long-term immunoglobulin replacement in developing countries. Pediatr Transplant. 2020;24(1):e13625.
23.
Rawat A, Jindal AK, Suri D, Vignesh P, Gupta A, Saikia B, et al. Clinical and genetic profile of X-linked agammaglobulinemia: a multicenter experience from India. Front Immunol. 2021;11.
24.
Bucciol G, Tousseyn T, Jansen K, Casteels I, Tangye SG, Breuer J, et al. Hematopoietic stem cell transplantation cures chronic Aichi virus infection in a patient with X-linked agammaglobulinemia. J Clin Immunol. 2021 (in press)
25.
Pierce SK, Morris JF, Grusby MJ, Kaumaya P, VAN Buskirk A, Srinivasan M, et al. Antigen-presenting function of B lymphocytes. Immunol Rev. 1988;106(1):149–80.CrossRef
26.
Bao Y, Zheng J, Han C, Jin J, Han H, Liu Y, et al. Tyrosine kinase Btk is required for NK cell activation. J Biol Chem. 2012;287(28):23769–78.CrossRef
27.
Brunner C, Müller B, Wirth T. Bruton’s tyrosine kinase is involved in innate and adaptive immunity. Histol Histopathol. 2005;20:945–55.PubMed
28.
Luk ADW, Ni K, Wu Y, Lam KT, Chan KW, Lee PP, et al. Type I and III interferon productions are impaired in X-linked agammaglobulinemia patients toward poliovirus but not influenza virus. Front Immunol. 2018;9(AUG).
29.
Bucciol G, Moens L, Payne K, Wollants E, Mekahli D, Levtchenko E, et al. Chronic Aichi virus infection in a patient with X-linked agammaglobulinemia. J Clin Immunol. 2018;38(7):748–52.CrossRef
30.
Ponsford MJ, Price C, Farewell D, Greene G, Moore C, Perry M, et al. Increased respiratory viral detection and symptom burden among patients with primary antibody deficiency: results from the BIPAD study. J Allergy Clin Immunol Pract. 2020.
31.
Barmettler S, Otani IM, Minhas J, Abraham RS, Chang Y, Dorsey MJ, et al. Gastrointestinal manifestations in X-linked agammaglobulinemia. J Clin Immunol. 2017;37(3):287–94.CrossRef
32.
Prevot J, Jolles S. Global immunoglobulin supply: steaming towards the iceberg? Curr Opin Allergy Clin Immunol. 2020;20(6):557–64.CrossRef
33.
Chiesa R, Wang J, Blok HJ, Hazelaar S, Neven B, Moshous D, et al. Hematopoietic cell transplantation in chronic granulomatous disease: a study of 712 children and adults. Blood. 2020;136(10):1201–11.CrossRef
34.
Cole T, McKendrick F, Titman P, Cant AJ, Pearce MS, Cale CM, et al. Health related quality of life and emotional health in children with chronic granulomatous disease: a comparison of those managed conservatively with those that have undergone haematopoietic stem cell transplant. J Clin Immunol. 2013;33(1):8–13.CrossRef
35.
Bryan BA, Battersby A, Shillitoe BM, Barge D, Bourne H, Flood T, et al. Respiratory health and related quality of life in patients with congenital agammaglobulinemia in the northern region of the UK. J Clin Immunol. 2016;36(5):472–9.CrossRef
Metadata
Title
Haematopoietic Stem Cell Transplant for Norovirus-Induced Intestinal Failure in X-linked Agammaglobulinemia
Authors
Ben M. J. Shillitoe
Mark Ponsford
Mary A. Slatter
Jennifer Evans
Siske Struik
Mike Cosgrove
Iolo Doull
Stephen Jolles
Andrew R. Gennery
Publication date
01-10-2021
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 7/2021
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-021-01088-2

Other articles of this Issue 7/2021

Journal of Clinical Immunology 7/2021 Go to the issue

Original Article

Atypical Inflammatory Syndrome Triggered by SARS-CoV-2 in Infants with Down Syndrome

Letter to Editor

Containment of Local COVID-19 Outbreak Among Hematopoietic Stem Cell Transplant Recipients and Healthcare Workers in a Pediatric Stem Cell Unit

Original Article

Normal IgH Repertoire Diversity in an Infant with ADA Deficiency After Gene Therapy

Letter to Editor

Exploration of Potential Immunodeficiency Unveils Hennekam Lymphangiectasia-Lymphedema Syndrome

Letter to Editor

Alternative Approach to Varicella Zoster Virus Prevention in a Child with Lymphopenia

Letter to Editor

SARS-CoV-2–Related Acute Respiratory Distress Syndrome Uncovers a Patient with Severe Combined Immunodeficiency Disease
Live Webinar | 27-06-2024 | 18:00 (CEST)

Keynote webinar | Spotlight on medication adherence

Reserve your place

Live: Thursday 27th June 2024, 18:00-19:30 (CEST)

WHO estimates that half of all patients worldwide are non-adherent to their prescribed medication. The consequences of poor adherence can be catastrophic, on both the individual and population level.

Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.

Prof. Kevin Dolgin
Prof. Florian Limbourg
Prof. Anoop Chauhan
Developed by: Springer Medicine
Obesity Clinical Trial Summary

At a glance: The STEP trials

Read more

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.

Developed by: Springer Medicine

Highlights from the ACC 2024 Congress

Year in Review: Pediatric cardiology

Pediatric Cardiology Video

Watch Dr. Anne Marie Valente present the last year's highlights in pediatric and congenital heart disease in the official ACC.24 Year in Review session.

Year in Review: Pulmonary vascular disease

Cardiopulmonary Comorbidity Video

The last year's highlights in pulmonary vascular disease are presented by Dr. Jane Leopold in this official video from ACC.24.

Year in Review: Valvular heart disease

Valvular Heart Disease Video

Watch Prof. William Zoghbi present the last year's highlights in valvular heart disease from the official ACC.24 Year in Review session.

Year in Review: Heart failure and cardiomyopathies

Heart Failure Video

Watch this official video from ACC.24. Dr. Biykem Bozkurt discusses last year's major advances in heart failure and cardiomyopathies.

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Heart Failure Video

Watch this official video from ACC.24. Dr. Biykem Bozkurt discusses last year's major advances in heart failure and cardiomyopathies.

Watch now

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

16-04-2024 Type 2 Diabetes News

Incentivised to exercise

11-04-2024 Lifestyle Modifications News

New intervention for STEMI-related cardiogenic shock

10-04-2024 Myocardial Infarction News

» View more highlights on the ACC 2024 congress hub page

Image Credits