Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency
Purpose Deficiency of adenosine deaminase type 2 (ADA2) (DADA2) is a rare inborn error of immunity caused by deleterious biallelic mutations in ADA2 . Clinical manifestations are diverse, ranging from severe vasculopathy with lacunar strokes to immunodeficiency with viral infections, hypogammaglobul...
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| Published in: | Journal of clinical immunology Vol. 41; no. 8; pp. 1915 - 1935 |
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| Main Authors: | , , , , , , , , , , , , , , , , , , , , |
| Format: | Journal Article |
| Language: | English |
| Published: |
New York
Springer US
01.11.2021
Springer Nature B.V |
| Subjects: | |
| ISSN: | 0271-9142, 1573-2592, 1573-2592 |
| Online Access: | Get full text |
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| Abstract | Purpose
Deficiency of adenosine deaminase type 2 (ADA2) (DADA2) is a rare inborn error of immunity caused by deleterious biallelic mutations in
ADA2
. Clinical manifestations are diverse, ranging from severe vasculopathy with lacunar strokes to immunodeficiency with viral infections, hypogammaglobulinemia and bone marrow failure. Limited data are available on the phenotype and function of leukocytes from DADA2 patients. The aim of this study was to perform in-depth immunophenotyping and functional analysis of the impact of DADA2 on human lymphocytes.
Methods
In-depth immunophenotyping and functional analyses were performed on ten patients with confirmed DADA2 and compared to heterozygous carriers of pathogenic
ADA2
mutations and normal healthy controls.
Results
The median age of the patients was 10 years (mean 20.7 years, range 1–44 years). Four out of ten patients were on treatment with steroids and/or etanercept or other immunosuppressives. We confirmed a defect in terminal B cell differentiation in DADA2 and reveal a block in B cell development in the bone marrow at the pro-B to pre-B cell stage. We also show impaired differentiation of CD4
+
and CD8
+
memory T cells, accelerated exhaustion/senescence, and impaired survival and granzyme production by ADA2 deficient CD8
+
T cells. Unconventional T cells (i.e. iNKT, MAIT, Vδ2
+
γδT) were diminished whereas pro-inflammatory monocytes and CD56
brigh
t
immature NK cells were increased. Expression of the IFN-induced lectin SIGLEC1 was increased on all monocyte subsets in DADA2 patients compared to healthy donors. Interestingly, the phenotype and function of lymphocytes from healthy heterozygous carriers were often intermediate to that of healthy donors and ADA2-deficient patients.
Conclusion
Extended immunophenotyping in DADA2 patients shows a complex immunophenotype. Our findings provide insight into the cellular mechanisms underlying some of the complex and heterogenous clinical features of DADA2. More research is needed to design targeted therapy to prevent viral infections in these patients with excessive inflammation as the overarching phenotype. |
|---|---|
| AbstractList | Deficiency of adenosine deaminase type 2 (ADA2) (DADA2) is a rare inborn error of immunity caused by deleterious biallelic mutations in ADA2. Clinical manifestations are diverse, ranging from severe vasculopathy with lacunar strokes to immunodeficiency with viral infections, hypogammaglobulinemia and bone marrow failure. Limited data are available on the phenotype and function of leukocytes from DADA2 patients. The aim of this study was to perform in-depth immunophenotyping and functional analysis of the impact of DADA2 on human lymphocytes.
In-depth immunophenotyping and functional analyses were performed on ten patients with confirmed DADA2 and compared to heterozygous carriers of pathogenic ADA2 mutations and normal healthy controls.
The median age of the patients was 10 years (mean 20.7 years, range 1-44 years). Four out of ten patients were on treatment with steroids and/or etanercept or other immunosuppressives. We confirmed a defect in terminal B cell differentiation in DADA2 and reveal a block in B cell development in the bone marrow at the pro-B to pre-B cell stage. We also show impaired differentiation of CD4
and CD8
memory T cells, accelerated exhaustion/senescence, and impaired survival and granzyme production by ADA2 deficient CD8
T cells. Unconventional T cells (i.e. iNKT, MAIT, Vδ2
γδT) were diminished whereas pro-inflammatory monocytes and CD56
immature NK cells were increased. Expression of the IFN-induced lectin SIGLEC1 was increased on all monocyte subsets in DADA2 patients compared to healthy donors. Interestingly, the phenotype and function of lymphocytes from healthy heterozygous carriers were often intermediate to that of healthy donors and ADA2-deficient patients.
Extended immunophenotyping in DADA2 patients shows a complex immunophenotype. Our findings provide insight into the cellular mechanisms underlying some of the complex and heterogenous clinical features of DADA2. More research is needed to design targeted therapy to prevent viral infections in these patients with excessive inflammation as the overarching phenotype. Deficiency of adenosine deaminase type 2 (ADA2) (DADA2) is a rare inborn error of immunity caused by deleterious biallelic mutations in ADA2. Clinical manifestations are diverse, ranging from severe vasculopathy with lacunar strokes to immunodeficiency with viral infections, hypogammaglobulinemia and bone marrow failure. Limited data are available on the phenotype and function of leukocytes from DADA2 patients. The aim of this study was to perform in-depth immunophenotyping and functional analysis of the impact of DADA2 on human lymphocytes.PURPOSEDeficiency of adenosine deaminase type 2 (ADA2) (DADA2) is a rare inborn error of immunity caused by deleterious biallelic mutations in ADA2. Clinical manifestations are diverse, ranging from severe vasculopathy with lacunar strokes to immunodeficiency with viral infections, hypogammaglobulinemia and bone marrow failure. Limited data are available on the phenotype and function of leukocytes from DADA2 patients. The aim of this study was to perform in-depth immunophenotyping and functional analysis of the impact of DADA2 on human lymphocytes.In-depth immunophenotyping and functional analyses were performed on ten patients with confirmed DADA2 and compared to heterozygous carriers of pathogenic ADA2 mutations and normal healthy controls.METHODSIn-depth immunophenotyping and functional analyses were performed on ten patients with confirmed DADA2 and compared to heterozygous carriers of pathogenic ADA2 mutations and normal healthy controls.The median age of the patients was 10 years (mean 20.7 years, range 1-44 years). Four out of ten patients were on treatment with steroids and/or etanercept or other immunosuppressives. We confirmed a defect in terminal B cell differentiation in DADA2 and reveal a block in B cell development in the bone marrow at the pro-B to pre-B cell stage. We also show impaired differentiation of CD4+ and CD8+ memory T cells, accelerated exhaustion/senescence, and impaired survival and granzyme production by ADA2 deficient CD8+ T cells. Unconventional T cells (i.e. iNKT, MAIT, Vδ2+ γδT) were diminished whereas pro-inflammatory monocytes and CD56bright immature NK cells were increased. Expression of the IFN-induced lectin SIGLEC1 was increased on all monocyte subsets in DADA2 patients compared to healthy donors. Interestingly, the phenotype and function of lymphocytes from healthy heterozygous carriers were often intermediate to that of healthy donors and ADA2-deficient patients.RESULTSThe median age of the patients was 10 years (mean 20.7 years, range 1-44 years). Four out of ten patients were on treatment with steroids and/or etanercept or other immunosuppressives. We confirmed a defect in terminal B cell differentiation in DADA2 and reveal a block in B cell development in the bone marrow at the pro-B to pre-B cell stage. We also show impaired differentiation of CD4+ and CD8+ memory T cells, accelerated exhaustion/senescence, and impaired survival and granzyme production by ADA2 deficient CD8+ T cells. Unconventional T cells (i.e. iNKT, MAIT, Vδ2+ γδT) were diminished whereas pro-inflammatory monocytes and CD56bright immature NK cells were increased. Expression of the IFN-induced lectin SIGLEC1 was increased on all monocyte subsets in DADA2 patients compared to healthy donors. Interestingly, the phenotype and function of lymphocytes from healthy heterozygous carriers were often intermediate to that of healthy donors and ADA2-deficient patients.Extended immunophenotyping in DADA2 patients shows a complex immunophenotype. Our findings provide insight into the cellular mechanisms underlying some of the complex and heterogenous clinical features of DADA2. More research is needed to design targeted therapy to prevent viral infections in these patients with excessive inflammation as the overarching phenotype.CONCLUSIONExtended immunophenotyping in DADA2 patients shows a complex immunophenotype. Our findings provide insight into the cellular mechanisms underlying some of the complex and heterogenous clinical features of DADA2. More research is needed to design targeted therapy to prevent viral infections in these patients with excessive inflammation as the overarching phenotype. PurposeDeficiency of adenosine deaminase type 2 (ADA2) (DADA2) is a rare inborn error of immunity caused by deleterious biallelic mutations in ADA2. Clinical manifestations are diverse, ranging from severe vasculopathy with lacunar strokes to immunodeficiency with viral infections, hypogammaglobulinemia and bone marrow failure. Limited data are available on the phenotype and function of leukocytes from DADA2 patients. The aim of this study was to perform in-depth immunophenotyping and functional analysis of the impact of DADA2 on human lymphocytes.MethodsIn-depth immunophenotyping and functional analyses were performed on ten patients with confirmed DADA2 and compared to heterozygous carriers of pathogenic ADA2 mutations and normal healthy controls.ResultsThe median age of the patients was 10 years (mean 20.7 years, range 1–44 years). Four out of ten patients were on treatment with steroids and/or etanercept or other immunosuppressives. We confirmed a defect in terminal B cell differentiation in DADA2 and reveal a block in B cell development in the bone marrow at the pro-B to pre-B cell stage. We also show impaired differentiation of CD4+ and CD8+ memory T cells, accelerated exhaustion/senescence, and impaired survival and granzyme production by ADA2 deficient CD8+ T cells. Unconventional T cells (i.e. iNKT, MAIT, Vδ2+ γδT) were diminished whereas pro-inflammatory monocytes and CD56bright immature NK cells were increased. Expression of the IFN-induced lectin SIGLEC1 was increased on all monocyte subsets in DADA2 patients compared to healthy donors. Interestingly, the phenotype and function of lymphocytes from healthy heterozygous carriers were often intermediate to that of healthy donors and ADA2-deficient patients.ConclusionExtended immunophenotyping in DADA2 patients shows a complex immunophenotype. Our findings provide insight into the cellular mechanisms underlying some of the complex and heterogenous clinical features of DADA2. More research is needed to design targeted therapy to prevent viral infections in these patients with excessive inflammation as the overarching phenotype. Purpose Deficiency of adenosine deaminase type 2 (ADA2) (DADA2) is a rare inborn error of immunity caused by deleterious biallelic mutations in ADA2 . Clinical manifestations are diverse, ranging from severe vasculopathy with lacunar strokes to immunodeficiency with viral infections, hypogammaglobulinemia and bone marrow failure. Limited data are available on the phenotype and function of leukocytes from DADA2 patients. The aim of this study was to perform in-depth immunophenotyping and functional analysis of the impact of DADA2 on human lymphocytes. Methods In-depth immunophenotyping and functional analyses were performed on ten patients with confirmed DADA2 and compared to heterozygous carriers of pathogenic ADA2 mutations and normal healthy controls. Results The median age of the patients was 10 years (mean 20.7 years, range 1–44 years). Four out of ten patients were on treatment with steroids and/or etanercept or other immunosuppressives. We confirmed a defect in terminal B cell differentiation in DADA2 and reveal a block in B cell development in the bone marrow at the pro-B to pre-B cell stage. We also show impaired differentiation of CD4 + and CD8 + memory T cells, accelerated exhaustion/senescence, and impaired survival and granzyme production by ADA2 deficient CD8 + T cells. Unconventional T cells (i.e. iNKT, MAIT, Vδ2 + γδT) were diminished whereas pro-inflammatory monocytes and CD56 brigh t immature NK cells were increased. Expression of the IFN-induced lectin SIGLEC1 was increased on all monocyte subsets in DADA2 patients compared to healthy donors. Interestingly, the phenotype and function of lymphocytes from healthy heterozygous carriers were often intermediate to that of healthy donors and ADA2-deficient patients. Conclusion Extended immunophenotyping in DADA2 patients shows a complex immunophenotype. Our findings provide insight into the cellular mechanisms underlying some of the complex and heterogenous clinical features of DADA2. More research is needed to design targeted therapy to prevent viral infections in these patients with excessive inflammation as the overarching phenotype. |
| Author | Bucciol, Giorgia Ma, Cindy S. Tangye, Stuart G. Phan, Tri Giang Wouters, Carine Hollway, Georgina E. Meyts, Isabelle Kane, Alisa Delafontaine, Selket De Somer, Lien Yap, Jin Yan Moens, Leen Wu, Kathy H.C. Toong, Catherine Lin, Ming-Wei Casas-Martin, Jose Hershfield, Michael Sewell, William A. Gray, Paul E. Kelleher, Anthony Enthoven, Karen |
| Author_xml | – sequence: 1 givenname: Jin Yan surname: Yap fullname: Yap, Jin Yan organization: Garvan Institute of Medical Research, Clinical Immunogenomics Research Consortium of Australasia (CIRCA) – sequence: 2 givenname: Leen surname: Moens fullname: Moens, Leen organization: Department of Microbiology, Immunology and Transplantation, Laboratory for Inborn Errors of Immunity, KU Leuven – sequence: 3 givenname: Ming-Wei surname: Lin fullname: Lin, Ming-Wei organization: Clinical Immunogenomics Research Consortium of Australasia (CIRCA), Department of Clinical Immunology and Immunopathology, Westmead Hospital, Faculty of Medicine, University of Sydney – sequence: 4 givenname: Alisa surname: Kane fullname: Kane, Alisa organization: Garvan Institute of Medical Research, Clinical Immunogenomics Research Consortium of Australasia (CIRCA), Department of Immunology, Liverpool Hospital, HIV and Immunology Unit, St Vincent’s Hospital, Faculty of Medicine, St Vincent’s Clinical School – sequence: 5 givenname: Anthony surname: Kelleher fullname: Kelleher, Anthony organization: HIV and Immunology Unit, St Vincent’s Hospital, The Kirby Institute for Infection and Immunity in Society – sequence: 6 givenname: Catherine surname: Toong fullname: Toong, Catherine organization: Department of Immunology, Liverpool Hospital – sequence: 7 givenname: Kathy H.C. surname: Wu fullname: Wu, Kathy H.C. organization: Garvan Institute of Medical Research, St Vincent’s Clinical Genomics, St Vincent’s Hospital Darlinghurst, School of Medicine, UNSW Sydney, Discipline of Genetic Medicine, University of Sydney, School of Medicine, University of Notre Dame – sequence: 8 givenname: William A. surname: Sewell fullname: Sewell, William A. organization: Garvan Institute of Medical Research, Faculty of Medicine, St Vincent’s Clinical School – sequence: 9 givenname: Tri Giang surname: Phan fullname: Phan, Tri Giang organization: Garvan Institute of Medical Research, Clinical Immunogenomics Research Consortium of Australasia (CIRCA), HIV and Immunology Unit, St Vincent’s Hospital – sequence: 10 givenname: Georgina E. surname: Hollway fullname: Hollway, Georgina E. organization: Garvan Institute of Medical Research, Clinical Immunogenomics Research Consortium of Australasia (CIRCA) – sequence: 11 givenname: Karen surname: Enthoven fullname: Enthoven, Karen organization: Garvan Institute of Medical Research, Clinical Immunogenomics Research Consortium of Australasia (CIRCA) – sequence: 12 givenname: Paul E. surname: Gray fullname: Gray, Paul E. organization: Department of Immunology and Infectious Diseases, Sydney Children’s Hospital, School of Women’s and Children’s Health, UNSW Sydney – sequence: 13 givenname: Jose surname: Casas-Martin fullname: Casas-Martin, Jose organization: Department of Microbiology, Immunology and Transplantation, Laboratory for Inborn Errors of Immunity, KU Leuven – sequence: 14 givenname: Carine surname: Wouters fullname: Wouters, Carine organization: Department of Microbiology and Immunology, Department of Pediatrics, University Hospitals Leuven – sequence: 15 givenname: Lien surname: De Somer fullname: De Somer, Lien organization: Department of Microbiology and Immunology, Department of Pediatrics, University Hospitals Leuven – sequence: 16 givenname: Michael surname: Hershfield fullname: Hershfield, Michael organization: Department of Medicine and Biochemistry, Duke University Medical Center – sequence: 17 givenname: Giorgia surname: Bucciol fullname: Bucciol, Giorgia organization: Department of Microbiology, Immunology and Transplantation, Laboratory for Inborn Errors of Immunity, KU Leuven, Department of Pediatrics, Division of Inborn Errors of Immunity, University Hospitals Leuven – sequence: 18 givenname: Selket surname: Delafontaine fullname: Delafontaine, Selket organization: Department of Microbiology, Immunology and Transplantation, Laboratory for Inborn Errors of Immunity, KU Leuven, Department of Pediatrics, Division of Inborn Errors of Immunity, University Hospitals Leuven – sequence: 19 givenname: Cindy S. surname: Ma fullname: Ma, Cindy S. organization: Garvan Institute of Medical Research, Clinical Immunogenomics Research Consortium of Australasia (CIRCA), Faculty of Medicine, St Vincent’s Clinical School – sequence: 20 givenname: Stuart G. orcidid: 0000-0002-5360-5180 surname: Tangye fullname: Tangye, Stuart G. email: s.tangye@garvan.org.au organization: Garvan Institute of Medical Research, Clinical Immunogenomics Research Consortium of Australasia (CIRCA), Faculty of Medicine, St Vincent’s Clinical School – sequence: 21 givenname: Isabelle orcidid: 0000-0003-1214-0302 surname: Meyts fullname: Meyts, Isabelle email: isabelle.meyts@uzleuven.be organization: Department of Microbiology, Immunology and Transplantation, Laboratory for Inborn Errors of Immunity, KU Leuven, Department of Medicine and Biochemistry, Duke University Medical Center |
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| DOI | 10.1007/s10875-021-01141-0 |
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| ISSN | 0271-9142 1573-2592 |
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| Issue | 8 |
| Keywords | SIGLEC-1 Monocytes DADA2 Type I IFN signature T cell exhaustion Humoral immunodeficiency ADA2 deficiency |
| Language | English |
| License | 2021. The Author(s). Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. |
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| PublicationDate | 2021-11-01 |
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| PublicationSubtitle | International Journal of Inborn Errors of Immunity and Related Diseases |
| PublicationTitle | Journal of clinical immunology |
| PublicationTitleAbbrev | J Clin Immunol |
| PublicationTitleAlternate | J Clin Immunol |
| PublicationYear | 2021 |
| Publisher | Springer US Springer Nature B.V |
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Deficiency of adenosine deaminase type 2 (ADA2) (DADA2) is a rare inborn error of immunity caused by deleterious biallelic mutations in
ADA2
. Clinical... Deficiency of adenosine deaminase type 2 (ADA2) (DADA2) is a rare inborn error of immunity caused by deleterious biallelic mutations in ADA2. Clinical... PurposeDeficiency of adenosine deaminase type 2 (ADA2) (DADA2) is a rare inborn error of immunity caused by deleterious biallelic mutations in ADA2. Clinical... |
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| StartPage | 1915 |
| SubjectTerms | Adenosine Adenosine deaminase Adenosine Deaminase - blood Adenosine Deaminase - deficiency Adenosine Deaminase - genetics Adolescent Adult Agammaglobulinemia - blood Agammaglobulinemia - genetics Agammaglobulinemia - immunology Aged B-Lymphocytes - immunology Biomedical and Life Sciences Biomedicine Bone marrow CD4 antigen CD8 antigen Cell Differentiation Child Child, Preschool Dendritic Cells - immunology Etanercept Genotype & phenotype Humans Hypogammaglobulinemia Immunodeficiency Immunological memory Immunology Infant Infectious Diseases Inflammation Intercellular Signaling Peptides and Proteins - blood Intercellular Signaling Peptides and Proteins - deficiency Intercellular Signaling Peptides and Proteins - genetics Interferon Internal Medicine Killer Cells, Natural - immunology Leukocytes Lymphocytes Lymphocytes B Lymphocytes T Medical Microbiology Memory cells Middle Aged Monocytes Mutation Original Original Article Patients Phenotypes Senescence Severe Combined Immunodeficiency - blood Severe Combined Immunodeficiency - genetics Severe Combined Immunodeficiency - immunology Steroid hormones T-Lymphocytes - immunology Vascular diseases Viral infections Young Adult |
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| Title | Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency |
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