Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2017 2
2018 2
2019 1
2020 7
2021 10
2022 15
2023 11
2024 6

Text availability

Article attribute

Article type

Publication date

Search Results

44 results

Results by year

Filters applied: . Clear all
Page 1
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW; NIHR BioResource; Warnatz K, Grimbacher B; NIHR BioResource. Lorenzini T, et al. J Allergy Clin Immunol. 2020 Oct;146(4):901-911. doi: 10.1016/j.jaci.2019.11.051. Epub 2020 Apr 9. J Allergy Clin Immunol. 2020. PMID: 32278790 Free PMC article.
Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.
Maccari ME, Wolkewitz M, Schwab C, Lorenzini T, Leiding JW, Aladjdi N, Abolhassani H, Abou-Chahla W, Aiuti A, Azarnoush S, Baris S, Barlogis V, Barzaghi F, Baumann U, Bloomfield M, Bohynikova N, Bodet D, Boutboul D, Bucciol G, Buckland MS, Burns SO, Cancrini C, Cathébras P, Cavazzana M, Cheminant M, Chinello M, Ciznar P, Coulter TI, D'Aveni M, Ekwall O, Eric Z, Eren E, Fasth A, Frange P, Fournier B, Garcia-Prat M, Gardembas M, Geier C, Ghosh S, Goda V, Hammarström L, Hauck F, Heeg M, Heropolitanska-Pliszka E, Hilfanova A, Jolles S, Karakoc-Aydiner E, Kindle GR, Kiykim A, Klemann C, Koletsi P, Koltan S, Kondratenko I, Körholz J, Krüger R, Jeziorski E, Levy R, Le Guenno G, Lefevre G, Lougaris V, Marzollo A, Mahlaoui N, Malphettes M, Meinhardt A, Merlin E, Meyts I, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neubert J, Neven B, Nieters A, Nove-Josserand R, Oksenhendler E, Ozen A, Olbrich P, Perlat A, Pac M, Schmid JP, Pacillo L, Parra-Martinez A, Paschenko O, Pellier I, Sefer AP, Plebani A, Plantaz D, Prader S, Raffray L, Ritterbusch H, Riviere JG, Rivalta B, Rusch S, Sakovich I, Savic S, Scheible R, Schleinitz N, Schuetz C, Schulz A, Sediva A, Semeraro M, Sharapova SO, Shcher… See abstract for full author list ➔ Maccari ME, et al. J Allergy Clin Immunol. 2023 Oct;152(4):984-996.e10. doi: 10.1016/j.jaci.2023.06.015. Epub 2023 Jun 28. J Allergy Clin Immunol. 2023. PMID: 37390899
The large clinical heterogeneity even in individuals with the same PIK3CD variant E1021K illustrates how poorly the genotype predicts the disease phenotype and course. The high clinical overlap between APDS and the other investigated IEIs suggests relevant pathophys …
The large clinical heterogeneity even in individuals with the same PIK3CD variant E1021K illustrates how poorly the genotype predicts …
Inborn Errors of Immunity in Children With Invasive Pneumococcal Disease: A Multicenter Prospective Study.
Phuong LK, Cheung A, Agrawal R, Butters C, Buttery J, Clark J, Connell T, Curtis N, Daley AJ, Dobinson HC, Frith C, Hameed NS, Hernstadt H, Krieser DM, Loke P, Ojaimi S, McMullan B, Pinzon-Charry A, Sharp EG, Sinnappurajar P, Templeton T, Wen S, Cole T, Gwee A. Phuong LK, et al. Pediatr Infect Dis J. 2023 Oct 1;42(10):908-913. doi: 10.1097/INF.0000000000004004. Epub 2023 Jul 7. Pediatr Infect Dis J. 2023. PMID: 37463351
Pathogenesis of Autoimmune Cytopenias in Inborn Errors of Immunity Revealing Novel Therapeutic Targets.
Cortesi M, Soresina A, Dotta L, Gorio C, Cattalini M, Lougaris V, Porta F, Badolato R. Cortesi M, et al. Front Immunol. 2022 Apr 6;13:846660. doi: 10.3389/fimmu.2022.846660. eCollection 2022. Front Immunol. 2022. PMID: 35464467 Free PMC article. Review.
Autoimmune cytopenias in IEI have often a more severe, chronic, and relapsing course. Treatment refractoriness also characterizes autoimmune cytopenia with a monogenic cause, such as IEI. ...
Autoimmune cytopenias in IEI have often a more severe, chronic, and relapsing course. Treatment refractoriness also characterizes aut …
Inborn Error of Immunity or Atopic Dermatitis: When to be Concerned and How to Investigate.
Stadler PC, Renner ED, Milner J, Wollenberg A. Stadler PC, et al. J Allergy Clin Immunol Pract. 2021 Apr;9(4):1501-1507. doi: 10.1016/j.jaip.2021.01.037. Epub 2021 Feb 3. J Allergy Clin Immunol Pract. 2021. PMID: 33548520
Inborn errors of immunity (IEI) may be missed in the context of atopic dermatitis, and management and prognosis of these conditions can be substantially different. Children suffering from IEIs such as hyper-IgE syndromes, Wiskott-Aldrich syndrome, immunodysregulation polye …
Inborn errors of immunity (IEI) may be missed in the context of atopic dermatitis, and management and prognosis of these conditions c …
Activated PI3Kδ syndrome - reviewing challenges in diagnosis and treatment.
Vanselow S, Wahn V, Schuetz C. Vanselow S, et al. Front Immunol. 2023 Jul 20;14:1208567. doi: 10.3389/fimmu.2023.1208567. eCollection 2023. Front Immunol. 2023. PMID: 37600808 Free PMC article. Review.
Additionally, allogeneic stem cell transplantation as well as new targeted therapies are options targeting the root cause that may improve patients' quality of life and life expectancy. However, the clinical course of the disease is difficult to predict which compli …
Additionally, allogeneic stem cell transplantation as well as new targeted therapies are options targeting the root cause that may improve p …
An early-onset SLE patient with a novel paternal inherited BACH2 mutation.
Zhou L, Sun G, Chen R, Chen J, Fang S, Xu Q, Tang W, Dai R, Zhang Z, An Y, Tang X, Zhao X. Zhou L, et al. J Clin Immunol. 2023 Aug;43(6):1367-1378. doi: 10.1007/s10875-023-01506-7. Epub 2023 May 6. J Clin Immunol. 2023. PMID: 37148421
Whole exome sequencing analysis of the patient and her parents revealed a novel heterozygous point mutation in BACH2, c.G1727T, resulting in substitution of a highly conserved arginine with leucine (R576L), which is predicted to be deleterious, in the patient and her fathe …
Whole exome sequencing analysis of the patient and her parents revealed a novel heterozygous point mutation in BACH2, c.G1727T, resulting in …
Revisiting autoimmune lymphoproliferative syndrome caused by Fas ligand mutations.
Maccari ME, Schneider P, Smulski CR, Meinhardt A, Pinto F, Gonzalez-Granado LI, Schuetz C, Sica MP, Gross M, Fuchs I, Kury P, Heeg M, Vocat T, Willen L, Thomas C, Hühn R, Magerus A, Lorenz M, Schwarz K, Rieux-Laucat F, Ehl S, Rensing-Ehl A. Maccari ME, et al. J Allergy Clin Immunol. 2023 May;151(5):1391-1401.e7. doi: 10.1016/j.jaci.2022.11.028. Epub 2023 Jan 5. J Allergy Clin Immunol. 2023. PMID: 36621650
METHODS: Clinical features and biomarkers were analyzed in 24 individuals with homozygous or heterozygous FASLG variants predicted to be deleterious. Cytotoxicity assays were performed with patient T cells and biochemical assays with recombinant FasL. ...
METHODS: Clinical features and biomarkers were analyzed in 24 individuals with homozygous or heterozygous FASLG variants predicted to …
Inborn errors of immunity with kidney and urinary tract disorders: a review.
Shajari A, Zare Ahmadabadi A, Ashrafi MM, Mahdavi T, Mirzaee M, Mohkam M, Sharafian S, Tamiji M, Jamee M. Shajari A, et al. Int Urol Nephrol. 2024 Jun;56(6):1965-1972. doi: 10.1007/s11255-023-03907-4. Epub 2024 Jan 10. Int Urol Nephrol. 2024. PMID: 38198013 Free PMC article. Review.
Kidney disorders are one of the important comorbidities in some of the affected patients and play a significant role in the diagnosis and course of disease. According to recent studies, 22 types of human IEI with renal manifestations have been identified so far, including …
Kidney disorders are one of the important comorbidities in some of the affected patients and play a significant role in the diagnosis and …
Human genetics of SARS-CoV-2 infection and critical COVID-19.
Mogensen TH. Mogensen TH. Clin Microbiol Infect. 2022 Nov;28(11):1417-1421. doi: 10.1016/j.cmi.2022.02.022. Epub 2022 Feb 24. Clin Microbiol Infect. 2022. PMID: 35218979 Free PMC article. Review.
SOURCES: The review is based on a broad literature search, including primarily studies on whole-exome sequencing, and to a lesser extent genome-wide association studies, of patients with critical COVID-19, as well as retrospective descriptive studies of the SARS-CoV-2 disease …
SOURCES: The review is based on a broad literature search, including primarily studies on whole-exome sequencing, and to a lesser extent gen …
44 results