Julie E Niemela
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Explore the profile of Julie E Niemela including associated specialties, affiliations and a list of published articles.
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58
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2376
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Recent Articles
1.
Klangkalya N, Esteve-Sole A, Gil Silva A, Stoddard J, Niemela J, Prader S, et al.
Clin Immunol
. 2025 Mar;
274:110469.
PMID: 40024461
IKAROS, encoded by IKZF1, is a six zinc-finger (ZF) transcription factor integral to lymphocyte development and function. IKZF1 mutations affecting DNA-binding (ZF1-4) and dimerization (ZF5-6) have been extensively reported and...
2.
Kuehn H, Bosticardo M, Arrieta A, Stoddard J, Pala F, Niemela J, et al.
J Allergy Clin Immunol
. 2024 Dec;
PMID: 39734035
Background: Heterozygous immunoproteasome 20 S subunit beta 10 (PSMB10) mutations can cause severe combined immunodeficiency and Omenn syndrome. Hematopoietic stem cell transplantation in these patients is associated with severe complications...
3.
Kuehn H, Sakovich I, Niemela J, Gil Silva A, Stoddard J, Polyakova E, et al.
J Clin Invest
. 2023 Nov;
134(3).
PMID: 38015619
AIOLOS, also known as IKZF3, is a transcription factor that is highly expressed in the lymphoid lineage and is critical for lymphocyte differentiation and development. Here, we report on 9...
4.
Bauman B, Dorjbal B, Pittaluga S, Zhang Y, Niemela J, Stoddard J, et al.
Clin Immunol
. 2023 Aug;
255:109732.
PMID: 37562721
Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare primary cutaneous non-Hodgkin lymphoma involving CD8 T cells, the genetic underpinnings of which remain incompletely understood. Here we report two unrelated patients...
5.
Thomas K, Tsioulos G, Kotsogianni C, Banos A, Niemela J, Cheng A, et al.
RMD Open
. 2023 Jun;
9(2).
PMID: 37364928
Infections are among the most serious complications in patients with systemic lupus erythematosus (SLE), with bacterial and viral infections being the most common. Non-tuberculous mycobacterial (NTM) infections are quite rare...
6.
Nunes-Santos C, Kuehn H, Boast B, Hwang S, Kuhns D, Stoddard J, et al.
Nat Commun
. 2023 Jun;
14(1):3708.
PMID: 37349293
We describe the first cases of germline biallelic null mutations in ARPC5, part of the Arp2/3 actin nucleator complex, in two unrelated patients presenting with recurrent and severe infections, early-onset...
7.
Sharma M, Leung D, Momenilandi M, Jones L, Pacillo L, James A, et al.
J Exp Med
. 2023 Mar;
220(5).
PMID: 36884218
STAT6 (signal transducer and activator of transcription 6) is a transcription factor that plays a central role in the pathophysiology of allergic inflammation. We have identified 16 patients from 10...
8.
Fornes O, Jia A, Kuehn H, Min Q, Pannicke U, Schleussner N, et al.
Sci Immunol
. 2023 Jan;
8(79):eade7953.
PMID: 36662884
Interferon regulatory factor 4 (IRF4) is a transcription factor (TF) and key regulator of immune cell development and function. We report a recurrent heterozygous mutation in IRF4, p.T95R, causing an...
9.
Hsu A, Korzeniowska A, Aguilar C, Gu J, Karlins E, Oler A, et al.
JCI Insight
. 2022 Sep;
7(22).
PMID: 36166305
Disseminated coccidioidomycosis (DCM) is caused by Coccidioides, pathogenic fungi endemic to the southwestern United States and Mexico. Illness occurs in approximately 30% of those infected, less than 1% of whom...
10.
Kuehn H, Chang J, Yamashita M, Niemela J, Zou C, Okuyama K, et al.
J Exp Med
. 2021 Oct;
218(12).
PMID: 34694366
AIOLOS/IKZF3 is a member of the IKAROS family of transcription factors. IKAROS/IKZF1 mutations have been previously associated with different forms of primary immunodeficiency. Here we describe a novel combined immunodeficiency...