A germline heterozygous dominant negativeIKZF2variant causing syndromic primary immune regulatory disorder and ICHAD Article Swipe
Henry Y. Lu
,
Maryam Vaseghi‐Shanjani
,
Avery J. Lam
,
Mehul Sharma
,
Arezoo Mohajeri
,
Jana Gillies
,
Gui Xiang Yang
,
Susan Lin
,
Maggie P. Fu
,
Areesha Salman
,
Ronak Rahmanian
,
Linlea Armstrong
,
Jessica Halparin
,
Connie Yang
,
Mark Chilvers
,
Erika Henkelman
,
Wingfield Rehmus
,
Douglas Morrison
,
Audi Setiadi
,
Sara Mostafavi
,
Michael S. Kobor
,
Frederick K. Kozak
,
Catherine M. Biggs
,
Clara D.M. van Karnebeek
,
Kyla J. Hildebrand
,
Anna Lehman
,
Megan K. Levings
,
Stuart E. Turvey
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1101/2023.09.09.23295301
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1101/2023.09.09.23295301
Monogenic defects that impair the control of inflammation and tolerance lead to profound immune dysregulation, including autoimmunity and atopy. Studying these disorders reveals important molecular and cellular factors that regulate human immune homeostasis and identifies potential precision medicine targets. Here, we provide a detailed immunological assessment of a pediatric patient with a recently discovered syndrome causing Immunodysregulation, Craniofacial anomalies, Hearing impairment, Athelia, and Developmental delay (or ICHAD syndrome). The immunodysregulation resulted in autoimmune hemolytic anemia (AIHA) and atopic dermatitis. The patient carried a de novo germline heterozygous c.406+540_574+13477dup;p.Gly136_Ser191dup variant in IKAROS family zinc finger 2 ( IKZF2 ), which encodes Helios. This variant led to reduced Helios protein expression and dominant interference of wild-type Helios-mediated repression of the IL2 promoter. Multi-parameter flow cytometric analyses of patient peripheral blood mononuclear cells revealed strongly impaired natural killer cell differentiation and function, and increased CD8 + T cell activation and cytokine secretion. Strikingly, patient CD4 + T cells were hyperactive, produced elevated levels of nearly all T helper (T H ) cytokines, and readily proliferated in response to stimulation. Patient regulatory T cells (Tregs) developed normally but aberrantly produced high levels of many T H cytokines. Single-cell RNA sequencing revealed largely normal Tregs (albeit mostly memory), but naïve CD4 + T cells that were more enriched in genes related to activation, proliferation, metabolism, and T H differentiation. This work describes the immunological phenotype of one of the first reported cases of germline dominant negative Helios deficiency, expands our understanding of the pathogenesis of AIHA on a single cell level, and provides valuable insights into Helios function in a variety of lymphocyte subsets.
Related Topics
Concepts
Biology
Immunology
Immune system
Immune dysregulation
T cell
CD8
Germline
Regulatory T cell
Autoimmunity
Genetics
Gene
IL-2 receptor
Metadata
- Type
- preprint
- Language
- en
- Landing Page
- https://doi.org/10.1101/2023.09.09.23295301
- https://www.medrxiv.org/content/medrxiv/early/2023/09/11/2023.09.09.23295301.full.pdf
- OA Status
- green
- Cited By
- 1
- References
- 52
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4386597802
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4386597802Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1101/2023.09.09.23295301Digital Object Identifier
- Title
-
A germline heterozygous dominant negativeIKZF2variant causing syndromic primary immune regulatory disorder and ICHADWork title
- Type
-
preprintOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2023Year of publication
- Publication date
-
2023-09-11Full publication date if available
- Authors
-
Henry Y. Lu, Maryam Vaseghi‐Shanjani, Avery J. Lam, Mehul Sharma, Arezoo Mohajeri, Jana Gillies, Gui Xiang Yang, Susan Lin, Maggie P. Fu, Areesha Salman, Ronak Rahmanian, Linlea Armstrong, Jessica Halparin, Connie Yang, Mark Chilvers, Erika Henkelman, Wingfield Rehmus, Douglas Morrison, Audi Setiadi, Sara Mostafavi, Michael S. Kobor, Frederick K. Kozak, Catherine M. Biggs, Clara D.M. van Karnebeek, Kyla J. Hildebrand, Anna Lehman, Megan K. Levings, Stuart E. TurveyList of authors in order
- Landing page
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https://doi.org/10.1101/2023.09.09.23295301Publisher landing page
- PDF URL
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https://www.medrxiv.org/content/medrxiv/early/2023/09/11/2023.09.09.23295301.full.pdfDirect link to full text PDF
- Open access
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YesWhether a free full text is available
- OA status
-
greenOpen access status per OpenAlex
- OA URL
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https://www.medrxiv.org/content/medrxiv/early/2023/09/11/2023.09.09.23295301.full.pdfDirect OA link when available
- Concepts
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Biology, Immunology, Immune system, Immune dysregulation, T cell, CD8, Germline, Regulatory T cell, Autoimmunity, Genetics, Gene, IL-2 receptorTop concepts (fields/topics) attached by OpenAlex
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1Total citation count in OpenAlex
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52Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.T | 144, 154, 164, 179, 191, 208, 222 |
| abstract_inverted_index.a | 43, 48, 52, 83, 253, 265 |
| abstract_inverted_index.(T | 166 |
| abstract_inverted_index.), | 98 |
| abstract_inverted_index.de | 84 |
| abstract_inverted_index.in | 72, 90, 173, 214, 264 |
| abstract_inverted_index.of | 7, 47, 113, 117, 125, 161, 189, 231, 233, 238, 247, 250, 267 |
| abstract_inverted_index.on | 252 |
| abstract_inverted_index.to | 12, 105, 175, 217 |
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| abstract_inverted_index.CD8 | 142 |
| abstract_inverted_index.IL2 | 119 |
| abstract_inverted_index.RNA | 195 |
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| abstract_inverted_index.all | 163 |
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| abstract_inverted_index.but | 184, 204 |
| abstract_inverted_index.led | 104 |
| abstract_inverted_index.one | 232 |
| abstract_inverted_index.our | 245 |
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| abstract_inverted_index.This | 102, 225 |
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| abstract_inverted_index.Here, | 40 |
| abstract_inverted_index.ICHAD | 67 |
| abstract_inverted_index.IKZF2 | 97 |
| abstract_inverted_index.Tregs | 200 |
| abstract_inverted_index.blood | 128 |
| abstract_inverted_index.cases | 237 |
| abstract_inverted_index.cells | 130, 155, 180, 209 |
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| abstract_inverted_index.first | 235 |
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| abstract_inverted_index.IKAROS | 91 |
| abstract_inverted_index.anemia | 75 |
| abstract_inverted_index.atopic | 78 |
| abstract_inverted_index.atopy. | 19 |
| abstract_inverted_index.family | 92 |
| abstract_inverted_index.finger | 94 |
| abstract_inverted_index.helper | 165 |
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| abstract_inverted_index.impair | 4 |
| abstract_inverted_index.killer | 135 |
| abstract_inverted_index.level, | 256 |
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| abstract_inverted_index.nearly | 162 |
| abstract_inverted_index.normal | 199 |
| abstract_inverted_index.single | 254 |
| abstract_inverted_index.(Tregs) | 181 |
| abstract_inverted_index.(albeit | 201 |
| abstract_inverted_index.Hearing | 60 |
| abstract_inverted_index.Helios. | 101 |
| abstract_inverted_index.Patient | 177 |
| abstract_inverted_index.carried | 82 |
| abstract_inverted_index.causing | 56 |
| abstract_inverted_index.control | 6 |
| abstract_inverted_index.defects | 2 |
| abstract_inverted_index.encodes | 100 |
| abstract_inverted_index.expands | 244 |
| abstract_inverted_index.factors | 28 |
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| abstract_inverted_index.patient | 50, 81, 126, 151 |
| abstract_inverted_index.protein | 108 |
| abstract_inverted_index.provide | 42 |
| abstract_inverted_index.readily | 171 |
| abstract_inverted_index.reduced | 106 |
| abstract_inverted_index.related | 216 |
| abstract_inverted_index.reveals | 23 |
| abstract_inverted_index.variant | 89, 103 |
| abstract_inverted_index.variety | 266 |
| abstract_inverted_index.Abstract | 0 |
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| abstract_inverted_index.Studying | 20 |
| abstract_inverted_index.analyses | 124 |
| abstract_inverted_index.cellular | 27 |
| abstract_inverted_index.cytokine | 148 |
| abstract_inverted_index.detailed | 44 |
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| abstract_inverted_index.elevated | 159 |
| abstract_inverted_index.enriched | 213 |
| abstract_inverted_index.function | 263 |
| abstract_inverted_index.germline | 86, 239 |
| abstract_inverted_index.impaired | 133 |
| abstract_inverted_index.insights | 260 |
| abstract_inverted_index.medicine | 38 |
| abstract_inverted_index.memory), | 203 |
| abstract_inverted_index.negative | 241 |
| abstract_inverted_index.normally | 183 |
| abstract_inverted_index.produced | 158, 186 |
| abstract_inverted_index.profound | 13 |
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| abstract_inverted_index.regulate | 30 |
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| abstract_inverted_index.revealed | 131, 197 |
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| abstract_inverted_index.subsets. | 269 |
| abstract_inverted_index.syndrome | 55 |
| abstract_inverted_index.targets. | 39 |
| abstract_inverted_index.valuable | 259 |
| abstract_inverted_index.Monogenic | 1 |
| abstract_inverted_index.describes | 227 |
| abstract_inverted_index.developed | 182 |
| abstract_inverted_index.disorders | 22 |
| abstract_inverted_index.function, | 139 |
| abstract_inverted_index.hemolytic | 74 |
| abstract_inverted_index.important | 24 |
| abstract_inverted_index.including | 16 |
| abstract_inverted_index.increased | 141 |
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| abstract_inverted_index.pediatric | 49 |
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| abstract_inverted_index.precision | 37 |
| abstract_inverted_index.promoter. | 120 |
| abstract_inverted_index.tolerance | 10 |
| abstract_inverted_index.wild-type | 114 |
| abstract_inverted_index.aberrantly | 185 |
| abstract_inverted_index.activation | 146 |
| abstract_inverted_index.anomalies, | 59 |
| abstract_inverted_index.assessment | 46 |
| abstract_inverted_index.autoimmune | 73 |
| abstract_inverted_index.cytokines, | 169 |
| abstract_inverted_index.cytokines. | 193 |
| abstract_inverted_index.cytometric | 123 |
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| abstract_inverted_index.lymphocyte | 268 |
| abstract_inverted_index.peripheral | 127 |
| abstract_inverted_index.regulatory | 178 |
| abstract_inverted_index.repression | 116 |
| abstract_inverted_index.secretion. | 149 |
| abstract_inverted_index.sequencing | 196 |
| abstract_inverted_index.syndrome). | 68 |
| abstract_inverted_index.Single-cell | 194 |
| abstract_inverted_index.Strikingly, | 150 |
| abstract_inverted_index.activation, | 218 |
| abstract_inverted_index.deficiency, | 243 |
| abstract_inverted_index.dermatitis. | 79 |
| abstract_inverted_index.homeostasis | 33 |
| abstract_inverted_index.impairment, | 61 |
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| abstract_inverted_index.heterozygous | 87 |
| abstract_inverted_index.hyperactive, | 157 |
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| abstract_inverted_index.interference | 112 |
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| abstract_inverted_index.stimulation. | 176 |
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| abstract_inverted_index.understanding | 246 |
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| abstract_inverted_index.Immunodysregulation, | 57 |
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| corresponding_author_ids | https://openalex.org/A5041066109 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 28 |
| corresponding_institution_ids | https://openalex.org/I141945490, https://openalex.org/I4210153200 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
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| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.6212636 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |