|
|
|
|
| LEADER |
01000caa a22002652 4500 |
| 001 |
NLM292673051 |
| 003 |
DE-627 |
| 005 |
20240423231815.0 |
| 007 |
cr uuu---uuuuu |
| 008 |
231225s2019 xx |||||o 00| ||eng c |
| 024 |
7 |
|
|a 10.1016/j.clim.2019.01.002
|2 doi
|
| 028 |
5 |
2 |
|a pubmed24n1384.xml
|
| 035 |
|
|
|a (DE-627)NLM292673051
|
| 035 |
|
|
|a (NLM)30639167
|
| 035 |
|
|
|a (PII)S1521-6616(18)30625-9
|
| 040 |
|
|
|a DE-627
|b ger
|c DE-627
|e rakwb
|
| 041 |
|
|
|a eng
|
| 100 |
1 |
|
|a Minto, Heather
|e verfasserin
|4 aut
|
| 245 |
1 |
2 |
|a A novel ATM mutation associated with elevated atypical lymphocyte populations, hyper-IgM, and cutaneous granulomas
|
| 264 |
|
1 |
|c 2019
|
| 336 |
|
|
|a Text
|b txt
|2 rdacontent
|
| 337 |
|
|
|a ƒaComputermedien
|b c
|2 rdamedia
|
| 338 |
|
|
|a ƒa Online-Ressource
|b cr
|2 rdacarrier
|
| 500 |
|
|
|a Date Completed 31.12.2019
|
| 500 |
|
|
|a Date Revised 23.04.2024
|
| 500 |
|
|
|a published: Print-Electronic
|
| 500 |
|
|
|a Citation Status MEDLINE
|
| 520 |
|
|
|a Copyright © 2019 Elsevier Inc. All rights reserved.
|
| 520 |
|
|
|a Ataxia-Telangiectasia (AT) is an immunodeficiency most often associated with T cell abnormalities. We describe a patient with a hyper-IgM phenotype and immune cell abnormalities that suggest a distinct clinical phenotype. Significant B cell abnormalities with increased unswitched memory B cells, decreased naive transitional B cells, and an elevated frequency of CD19+CD38loCD27-CD10-CD21-/low B cells expressing high levels of T-bet and Fas were demonstrated. The B cells were hyporesponsive to in vitro stimulation through the B cell receptor, Toll like receptors (TLR) 7 and 9, and CD40. T cell homeostasis was also disturbed with a significant increase in γδ T cells, circulating T follicular helper cells (Tfh), and decreased numbers of T regulatory cells. The ATM mutations in this patient are posited to have resulted in the perturbations in the frequencies and distributions of B and T cell subsets, resulting in the phenotype in this patient. KEY MESSAGES: A novel mutation creating a premature stop codon and a nonsense mutation in the ATM gene are postulated to have resulted in the unique clinical picture characterized by abnormal B and T cell populations, lymphocyte subset dysfunction, granuloma formation, and a hyper-IgM phenotype. CAPSULE SUMMARY: A patient presented with ataxia-telangiectasia, cutaneous granulomas, and a hyper-IgM phenotype; a novel combination of mutations in the ATM gene was associated with abnormal distributions, frequencies, and function of T and B lymphocyte subsets
|
| 650 |
|
4 |
|a Case Reports
|
| 650 |
|
4 |
|a Journal Article
|
| 650 |
|
4 |
|a Research Support, N.I.H., Extramural
|
| 650 |
|
4 |
|a Research Support, Non-U.S. Gov't
|
| 650 |
|
4 |
|a Ataxia-telangiectasia
|
| 650 |
|
4 |
|a CD38(lo)CD21(−/low) B cells
|
| 650 |
|
4 |
|a Fas
|
| 650 |
|
4 |
|a Hyper-IgM
|
| 650 |
|
4 |
|a T-bet
|
| 650 |
|
4 |
|a Tfh
|
| 650 |
|
4 |
|a Tregs
|
| 650 |
|
4 |
|a γδ T cells
|
| 650 |
|
7 |
|a Codon, Nonsense
|2 NLM
|
| 650 |
|
7 |
|a ATM protein, human
|2 NLM
|
| 650 |
|
7 |
|a EC 2.7.11.1
|2 NLM
|
| 650 |
|
7 |
|a Ataxia Telangiectasia Mutated Proteins
|2 NLM
|
| 650 |
|
7 |
|a EC 2.7.11.1
|2 NLM
|
| 700 |
1 |
|
|a Mensah, Kofi A
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Reynolds, Paul R
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Meffre, Eric
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Rubtsova, Kira
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Gelfand, Erwin W
|e verfasserin
|4 aut
|
| 773 |
0 |
8 |
|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 200(2019) vom: 14. März, Seite 55-63
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnns
|
| 773 |
1 |
8 |
|g volume:200
|g year:2019
|g day:14
|g month:03
|g pages:55-63
|
| 856 |
4 |
0 |
|u http://dx.doi.org/10.1016/j.clim.2019.01.002
|3 Volltext
|
| 912 |
|
|
|a GBV_USEFLAG_A
|
| 912 |
|
|
|a SYSFLAG_A
|
| 912 |
|
|
|a GBV_NLM
|
| 912 |
|
|
|a GBV_ILN_11
|
| 912 |
|
|
|a GBV_ILN_24
|
| 912 |
|
|
|a GBV_ILN_350
|
| 951 |
|
|
|a AR
|
| 952 |
|
|
|d 200
|j 2019
|b 14
|c 03
|h 55-63
|