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NLM368312380 |
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DE-627 |
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20240411232314.0 |
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240212s2024 xx |||||o 00| ||eng c |
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|a 10.1016/j.clim.2024.109922
|2 doi
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|a pubmed24n1372.xml
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|a (DE-627)NLM368312380
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|a (NLM)38320737
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|a (PII)S1521-6616(24)00033-0
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|a DE-627
|b ger
|c DE-627
|e rakwb
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| 041 |
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|a eng
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| 100 |
1 |
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|a Klangkalya, Natchanun
|e verfasserin
|4 aut
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| 245 |
1 |
0 |
|a IKAROS gain of function disease
|b Allogeneic hematopoietic cell transplantation experience and expanded clinical phenotypes
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1 |
|c 2024
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| 336 |
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|a Text
|b txt
|2 rdacontent
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|a ƒaComputermedien
|b c
|2 rdamedia
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|a ƒa Online-Ressource
|b cr
|2 rdacarrier
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|a Date Completed 19.02.2024
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|a Date Revised 10.04.2024
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|a published: Print-Electronic
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|a Citation Status MEDLINE
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|a Copyright © 2024. Published by Elsevier Inc.
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|a IKAROS, encoded by IKZF1, is a tumor suppressor and a key hematopoietic transcription factor responsible for lymphoid and myeloid differentiation. IKZF1 mutations result in inborn errors of immunity presenting with increased susceptibility to infections, immune dysregulation, and malignancies. In particular, patients carrying IKZF1 gain-of-function (GOF) mutations mostly exhibit symptoms of immune dysregulation and polyclonal plasma cell proliferation. Herein, we describe seven new IKAROS GOF cases from two unrelated families, presenting with novel infectious, immune dysregulation and hematologic diseases. Two of the patients underwent allogeneic hematopoietic cell transplantation (HCT) due to poorly responsive complications. HCT was well-tolerated achieving full engraftment in both patients receiving reduced intensity, matched unrelated donor grafts, with no severe acute or chronic graft-vs-host-disease, and in remission from their diseases 2.5 and 4 years post-HCT, respectively. These results suggest that HCT is a valid and curative option in patients with IKAROS GOF disease and severe clinical manifestations
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|a Journal Article
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4 |
|a Research Support, N.I.H., Intramural
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| 650 |
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4 |
|a Allergy
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| 650 |
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4 |
|a Autoimmunity
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| 650 |
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4 |
|a Immune dysregulation
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| 650 |
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4 |
|a Inborn errors of immunity
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| 650 |
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4 |
|a Infections
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| 650 |
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4 |
|a Malignancies
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| 650 |
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4 |
|a Primary immunodeficiency
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| 650 |
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4 |
|a Transcription factor
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| 650 |
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7 |
|a IKZF1 protein, human
|2 NLM
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| 650 |
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7 |
|a Ikaros Transcription Factor
|2 NLM
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| 650 |
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7 |
|a 148971-36-2
|2 NLM
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| 700 |
1 |
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|a Stoddard, Jennifer
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Niemela, Julie
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Sponaugle, Jennifer
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Greenwell, Irl Brian
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Reigh, Erin
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Kuehn, Hye Sun
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Kanakry, Jennifer A
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Rosenzweig, Sergio D
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Dimitrova, Dimana
|e verfasserin
|4 aut
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| 773 |
0 |
8 |
|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 260(2024) vom: 01. März, Seite 109922
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnns
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| 773 |
1 |
8 |
|g volume:260
|g year:2024
|g day:01
|g month:03
|g pages:109922
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| 856 |
4 |
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|u http://dx.doi.org/10.1016/j.clim.2024.109922
|3 Volltext
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|a GBV_ILN_11
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|a GBV_ILN_24
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|a GBV_ILN_350
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|a AR
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