Increased response to granulocyte-macrophage colony-stimulating factor in peripheral blood cells and transient manifestations mimicking juvenile myelomonocytic leukemia in a male patient with NEMO deficiency caused by a deep intronic pathogenic variant of IKBKG Article Swipe
M. Ueki
,
Shinsuke Hirabayashi
,
Yoshitaka Honda
,
Shunichiro Takezaki
,
Hiroki Ohata
,
Shimaa Said Mohamed Ali Abdrabou
,
Saori Sawai
,
Yukayo Terashita
,
Yuko Cho
,
Hideki Muramatsu
,
Kazushi Izawa
,
Takahiro Yasumi
,
Yoshiyuki Takahashi
,
Masafumi Yamada
,
Atsushi Manabe
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1080/25785826.2024.2422639
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1080/25785826.2024.2422639
X-linked NF-κB essential modulator (NEMO) deficiency is a primary immunodeficiency characterized by combined immunodeficiency and ectodermal dysplasia. Monocytes from the patients demonstrate a severely impaired response to tissue necrosis factor or lipopolysaccharide, whereas hyper-inflammation is found in some patients. Juvenile myelomonocytic leukemia (JMML) is a pediatric malignancy caused by hypersensitivity to granulocyte-macrophage colony-stimulating factor (GM-CSF) and aberrant RAS signaling activation. Patients with JMML demonstrate characteristic manifestations such as splenomegaly, monocytosis and the presence of myeloid or erythroid precursors in the peripheral blood. Here, we present the case of a male infant with ectodermal dysplasia, bacterial septicemia, Pneumocystis pneumonia, severe inflammation and transient manifestations mimicking JMML. Genetic analysis revealed a deep intronic germline variant of IKBKG. Full-length IKBKG cDNA and NEMO protein expression were almost inexistent. Peripheral mononuclear cells (PBMCs) from the patient showed increased RAS signaling activation with GM-CSF or Phorbol 12-myristate 13-acetate without the RAS-associated gene variant, although the increased RAS signaling activation in induced-pluripotent stem cell-derived myeloid lineage and bone marrow-derived mesenchymal cells was not evident. The patient with NEMO deficiency demonstrated JMML-like manifestation and severe inflammation. PBMCs of the patient demonstrated increased RAS signaling activation with unknown pathophysiology.
Related Topics
Concepts
Juvenile myelomonocytic leukemia
Peripheral blood
Leukemia
Juvenile
Immunology
Medicine
Granulocyte
Biology
Cancer research
Haematopoiesis
Genetics
Stem cell
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1080/25785826.2024.2422639
- OA Status
- diamond
- Cited By
- 2
- References
- 27
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4403981775
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4403981775Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1080/25785826.2024.2422639Digital Object Identifier
- Title
-
Increased response to granulocyte-macrophage colony-stimulating factor in peripheral blood cells and transient manifestations mimicking juvenile myelomonocytic leukemia in a male patient with NEMO deficiency caused by a deep intronic pathogenic variant of IKBKGWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2024Year of publication
- Publication date
-
2024-11-01Full publication date if available
- Authors
-
M. Ueki, Shinsuke Hirabayashi, Yoshitaka Honda, Shunichiro Takezaki, Hiroki Ohata, Shimaa Said Mohamed Ali Abdrabou, Saori Sawai, Yukayo Terashita, Yuko Cho, Hideki Muramatsu, Kazushi Izawa, Takahiro Yasumi, Yoshiyuki Takahashi, Masafumi Yamada, Atsushi ManabeList of authors in order
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https://doi.org/10.1080/25785826.2024.2422639Publisher landing page
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YesWhether a free full text is available
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diamondOpen access status per OpenAlex
- OA URL
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https://doi.org/10.1080/25785826.2024.2422639Direct OA link when available
- Concepts
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Juvenile myelomonocytic leukemia, Peripheral blood, Leukemia, Juvenile, Immunology, Medicine, Granulocyte, Biology, Cancer research, Haematopoiesis, Genetics, Stem cellTop concepts (fields/topics) attached by OpenAlex
- Cited by
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2Total citation count in OpenAlex
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2025: 2Per-year citation counts (last 5 years)
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27Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.we | 83 |
| abstract_inverted_index.RAS | 57, 134, 151, 185 |
| abstract_inverted_index.The | 168 |
| abstract_inverted_index.and | 14, 55, 70, 100, 118, 160, 176 |
| abstract_inverted_index.not | 166 |
| abstract_inverted_index.the | 19, 71, 79, 85, 130, 144, 149, 181 |
| abstract_inverted_index.was | 165 |
| abstract_inverted_index.JMML | 62 |
| abstract_inverted_index.NEMO | 119, 171 |
| abstract_inverted_index.bone | 161 |
| abstract_inverted_index.cDNA | 117 |
| abstract_inverted_index.case | 86 |
| abstract_inverted_index.deep | 109 |
| abstract_inverted_index.from | 18, 129 |
| abstract_inverted_index.gene | 146 |
| abstract_inverted_index.male | 89 |
| abstract_inverted_index.some | 37 |
| abstract_inverted_index.stem | 156 |
| abstract_inverted_index.such | 66 |
| abstract_inverted_index.were | 122 |
| abstract_inverted_index.with | 61, 91, 137, 170, 188 |
| abstract_inverted_index.Here, | 82 |
| abstract_inverted_index.IKBKG | 116 |
| abstract_inverted_index.JMML. | 104 |
| abstract_inverted_index.PBMCs | 179 |
| abstract_inverted_index.cells | 127, 164 |
| abstract_inverted_index.found | 35 |
| abstract_inverted_index.(JMML) | 42 |
| abstract_inverted_index.(NEMO) | 4 |
| abstract_inverted_index.GM-CSF | 138 |
| abstract_inverted_index.IKBKG. | 114 |
| abstract_inverted_index.NF-κB | 1 |
| abstract_inverted_index.almost | 123 |
| abstract_inverted_index.blood. | 81 |
| abstract_inverted_index.caused | 47 |
| abstract_inverted_index.factor | 29, 53 |
| abstract_inverted_index.infant | 90 |
| abstract_inverted_index.severe | 98, 177 |
| abstract_inverted_index.showed | 132 |
| abstract_inverted_index.tissue | 27 |
| abstract_inverted_index.(PBMCs) | 128 |
| abstract_inverted_index.Genetic | 105 |
| abstract_inverted_index.Phorbol | 140 |
| abstract_inverted_index.lineage | 159 |
| abstract_inverted_index.myeloid | 74, 158 |
| abstract_inverted_index.patient | 131, 169, 182 |
| abstract_inverted_index.present | 84 |
| abstract_inverted_index.primary | 8 |
| abstract_inverted_index.protein | 120 |
| abstract_inverted_index.unknown | 189 |
| abstract_inverted_index.variant | 112 |
| abstract_inverted_index.whereas | 32 |
| abstract_inverted_index.without | 143 |
| abstract_inverted_index.(GM-CSF) | 54 |
| abstract_inverted_index.Juvenile | 39 |
| abstract_inverted_index.Patients | 60 |
| abstract_inverted_index.X-linked | 0 |
| abstract_inverted_index.aberrant | 56 |
| abstract_inverted_index.although | 148 |
| abstract_inverted_index.analysis | 106 |
| abstract_inverted_index.combined | 12 |
| abstract_inverted_index.evident. | 167 |
| abstract_inverted_index.germline | 111 |
| abstract_inverted_index.impaired | 24 |
| abstract_inverted_index.intronic | 110 |
| abstract_inverted_index.leukemia | 41 |
| abstract_inverted_index.necrosis | 28 |
| abstract_inverted_index.patients | 20 |
| abstract_inverted_index.presence | 72 |
| abstract_inverted_index.response | 25 |
| abstract_inverted_index.revealed | 107 |
| abstract_inverted_index.severely | 23 |
| abstract_inverted_index.variant, | 147 |
| abstract_inverted_index.JMML-like | 174 |
| abstract_inverted_index.Monocytes | 17 |
| abstract_inverted_index.bacterial | 94 |
| abstract_inverted_index.erythroid | 76 |
| abstract_inverted_index.essential | 2 |
| abstract_inverted_index.increased | 133, 150, 184 |
| abstract_inverted_index.mimicking | 103 |
| abstract_inverted_index.modulator | 3 |
| abstract_inverted_index.patients. | 38 |
| abstract_inverted_index.pediatric | 45 |
| abstract_inverted_index.signaling | 58, 135, 152, 186 |
| abstract_inverted_index.transient | 101 |
| abstract_inverted_index.13-acetate | 142 |
| abstract_inverted_index.Peripheral | 125 |
| abstract_inverted_index.activation | 136, 153, 187 |
| abstract_inverted_index.deficiency | 5, 172 |
| abstract_inverted_index.dysplasia, | 93 |
| abstract_inverted_index.dysplasia. | 16 |
| abstract_inverted_index.ectodermal | 15, 92 |
| abstract_inverted_index.expression | 121 |
| abstract_inverted_index.malignancy | 46 |
| abstract_inverted_index.peripheral | 80 |
| abstract_inverted_index.pneumonia, | 97 |
| abstract_inverted_index.precursors | 77 |
| abstract_inverted_index.Full-length | 115 |
| abstract_inverted_index.activation. | 59 |
| abstract_inverted_index.demonstrate | 21, 63 |
| abstract_inverted_index.inexistent. | 124 |
| abstract_inverted_index.mesenchymal | 163 |
| abstract_inverted_index.monocytosis | 69 |
| abstract_inverted_index.mononuclear | 126 |
| abstract_inverted_index.septicemia, | 95 |
| abstract_inverted_index.12-myristate | 141 |
| abstract_inverted_index.Pneumocystis | 96 |
| abstract_inverted_index.cell-derived | 157 |
| abstract_inverted_index.demonstrated | 173, 183 |
| abstract_inverted_index.inflammation | 99 |
| abstract_inverted_index.characterized | 10 |
| abstract_inverted_index.inflammation. | 178 |
| abstract_inverted_index.manifestation | 175 |
| abstract_inverted_index.splenomegaly, | 68 |
| abstract_inverted_index.RAS-associated | 145 |
| abstract_inverted_index.characteristic | 64 |
| abstract_inverted_index.manifestations | 65, 102 |
| abstract_inverted_index.marrow-derived | 162 |
| abstract_inverted_index.myelomonocytic | 40 |
| abstract_inverted_index.hypersensitivity | 49 |
| abstract_inverted_index.immunodeficiency | 9, 13 |
| abstract_inverted_index.pathophysiology. | 190 |
| abstract_inverted_index.colony-stimulating | 52 |
| abstract_inverted_index.hyper-inflammation | 33 |
| abstract_inverted_index.induced-pluripotent | 155 |
| abstract_inverted_index.lipopolysaccharide, | 31 |
| abstract_inverted_index.granulocyte-macrophage | 51 |
| cited_by_percentile_year.max | 97 |
| cited_by_percentile_year.min | 95 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 15 |
| citation_normalized_percentile.value | 0.70920369 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |