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For: Gruber C, Bogunovic D. Incomplete penetrance in primary immunodeficiency: a skeleton in the closet. Hum Genet 2020;139:745-57. [PMID: 32067110 DOI: 10.1007/s00439-020-02131-9] [Cited by in Crossref: 22] [Cited by in F6Publishing: 16] [Article Influence: 11.0] [Reference Citation Analysis]
Number Citing Articles
1 Spaan AN, Neehus AL, Laplantine E, Staels F, Ogishi M, Seeleuthner Y, Rapaport F, Lacey KA, Van Nieuwenhove E, Chrabieh M, Hum D, Migaud M, Izmiryan A, Lorenzo L, Kochetkov T, Heesterbeek DAC, Bardoel BW, DuMont AL, Dobbs K, Chardonnet S, Heissel S, Baslan T, Zhang P, Yang R, Bogunovic D, Wunderink HF, Haas PA, Molina H, Van Buggenhout G, Lyonnet S, Notarangelo LD, Seppänen MRJ, Weil R, Seminario G, Gomez-Tello H, Wouters C, Mesdaghi M, Shahrooei M, Bossuyt X, Sag E, Topaloglu R, Ozen S, Leavis HL, van Eijk MMJ, Bezrodnik L, Blancas Galicia L, Hovnanian A, Nassif A, Bader-Meunier B, Neven B, Meyts I, Schrijvers R, Puel A, Bustamante J, Aksentijevich I, Kastner D, Torres VJ, Humblet-Baron S, Liston A, Abel L, Boisson B, Casanova JL. Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin. Science 2022;:eabm6380. [PMID: 35587511 DOI: 10.1126/science.abm6380] [Reference Citation Analysis]
2 Frémond ML, Crow YJ. STING-Mediated Lung Inflammation and Beyond. J Clin Immunol 2021;41:501-14. [PMID: 33532887 DOI: 10.1007/s10875-021-00974-z] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 4.0] [Reference Citation Analysis]
3 Sogkas G, Dubrowinskaja N, Adriawan IR, Anim M, Witte T, Schmidt RE, Atschekzei F. High frequency of variants in genes associated with primary immunodeficiencies in patients with rheumatic diseases with secondary hypogammaglobulinaemia. Ann Rheum Dis 2020:annrheumdis-2020-218280. [PMID: 33046446 DOI: 10.1136/annrheumdis-2020-218280] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
4 Lee K, Abraham RS. Next-generation sequencing for inborn errors of immunity. Hum Immunol 2021:S0198-8859(21)00061-6. [PMID: 33715910 DOI: 10.1016/j.humimm.2021.02.011] [Reference Citation Analysis]
5 Abraham RS, Butte MJ. The New "Wholly Trinity" in the Diagnosis and Management of Inborn Errors of Immunity. J Allergy Clin Immunol Pract 2021;9:613-25. [PMID: 33551037 DOI: 10.1016/j.jaip.2020.11.044] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 3.0] [Reference Citation Analysis]
6 Jamee M, Hosseinzadeh S, Sharifinejad N, Zaki-Dizaji M, Matloubi M, Hasani M, Baris S, Alsabbagh M, Lo B, Azizi G. Comprehensive comparison between 222 CTLA-4 haploinsufficiency and 212 LRBA deficiency patients: a systematic review. Clin Exp Immunol 2021;205:28-43. [PMID: 33788257 DOI: 10.1111/cei.13600] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 3.0] [Reference Citation Analysis]
7 David C, Frémond M. Lung Inflammation in STING-Associated Vasculopathy with Onset in Infancy (SAVI). Cells 2022;11:318. [DOI: 10.3390/cells11030318] [Reference Citation Analysis]
8 Körholz J, Gabrielyan A, Sowerby JM, Boschann F, Chen LS, Paul D, Brandt D, Kleymann J, Kolditz M, Toepfner N, Knöfler R, Jacobsen EM, Wolf C, Conrad K, Röber N, Lee-Kirsch MA, Smith KGC, Mundlos S, Berner R, Dalpke AH, Schuetz C, Rae W. One Gene, Many Facets: Multiple Immune Pathway Dysregulation in SOCS1 Haploinsufficiency. Front Immunol 2021;12:680334. [PMID: 34421895 DOI: 10.3389/fimmu.2021.680334] [Reference Citation Analysis]
9 Taft J, Markson M, Legarda D, Patel R, Chan M, Malle L, Richardson A, Gruber C, Martín-Fernández M, Mancini GMS, van Laar JAM, van Pelt P, Buta S, Wokke BHA, Sabli IKD, Sancho-Shimizu V, Chavan PP, Schnappauf O, Khubchandani R, Cüceoğlu MK, Özen S, Kastner DL, Ting AT, Aksentijevich I, Hollink IHIM, Bogunovic D. Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death. Cell 2021:S0092-8674(21)00885-0. [PMID: 34363755 DOI: 10.1016/j.cell.2021.07.026] [Reference Citation Analysis]
10 Miano M, Grossi A, Dell'Orso G, Lanciotti M, Fioredda F, Palmisani E, Lanza T, Guardo D, Beccaria A, Ravera S, Cossu V, Terranova P, Giona F, Santopietro M, Cappelli E, Ceccherini I, Dufour C. Genetic screening of children with marrow failure. The role of primary Immunodeficiencies. Am J Hematol 2021;96:1077-86. [PMID: 34000087 DOI: 10.1002/ajh.26242] [Cited by in Crossref: 6] [Cited by in F6Publishing: 3] [Article Influence: 6.0] [Reference Citation Analysis]
11 Karimi E, Mahmoudian F, Reyes SOL, Bargir UA, Madkaikar M, Artac H, Sabzevari A, Lu N, Azizi G, Abolhassani H. Approach to genetic diagnosis of inborn errors of immunity through next-generation sequencing. Mol Immunol 2021;137:57-66. [PMID: 34216999 DOI: 10.1016/j.molimm.2021.06.018] [Reference Citation Analysis]
12 Casanova JL, Abel L. Lethal Infectious Diseases as Inborn Errors of Immunity: Toward a Synthesis of the Germ and Genetic Theories. Annu Rev Pathol 2021;16:23-50. [PMID: 32289233 DOI: 10.1146/annurev-pathol-031920-101429] [Cited by in Crossref: 11] [Cited by in F6Publishing: 12] [Article Influence: 5.5] [Reference Citation Analysis]
13 Barmada A, Ramaswamy A, Lucas CL. Maximizing insights from monogenic immune disorders. Curr Opin Immunol 2021;73:50-7. [PMID: 34695727 DOI: 10.1016/j.coi.2021.09.008] [Reference Citation Analysis]
14 Seaby EG, Rehm HL, O'Donnell-Luria A. Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes. Front Genet 2021;12:674295. [PMID: 34220947 DOI: 10.3389/fgene.2021.674295] [Reference Citation Analysis]
15 Berger K, Arafat D, Chandrakasan S, Snapper SB, Gibson G. Targeted RNAseq Improves Clinical Diagnosis of Very Early-Onset Pediatric Immune Dysregulation. JPM 2022;12:919. [DOI: 10.3390/jpm12060919] [Reference Citation Analysis]
16 Sogkas G, Atschekzei F, Adriawan IR, Dubrowinskaja N, Witte T, Schmidt RE. Cellular and molecular mechanisms breaking immune tolerance in inborn errors of immunity. Cell Mol Immunol 2021;18:1122-40. [PMID: 33795850 DOI: 10.1038/s41423-020-00626-z] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
17 Varadé J, Magadán S, González-Fernández Á. Human immunology and immunotherapy: main achievements and challenges. Cell Mol Immunol 2021;18:805-28. [PMID: 32879472 DOI: 10.1038/s41423-020-00530-6] [Cited by in Crossref: 9] [Cited by in F6Publishing: 15] [Article Influence: 4.5] [Reference Citation Analysis]
18 Casanova JL, Abel L. The human genetic determinism of life-threatening infectious diseases: genetic heterogeneity and physiological homogeneity? Hum Genet 2020;139:681-94. [PMID: 32462426 DOI: 10.1007/s00439-020-02184-w] [Cited by in Crossref: 17] [Cited by in F6Publishing: 15] [Article Influence: 8.5] [Reference Citation Analysis]
19 Serra I, Manusama OR, Kaiser FMP, Floriano II, Wahl L, van der Zalm C, IJspeert H, van Hagen PM, van Beveren NJM, Arend SM, Okkenhaug K, Pel JJM, Dalm VASH, Badura A. Activated PI3Kδ syndrome, an immunodeficiency disorder, leads to sensorimotor deficits recapitulated in a murine model. Brain Behav Immun Health 2021;18:100377. [PMID: 34786564 DOI: 10.1016/j.bbih.2021.100377] [Reference Citation Analysis]
20 Staels F, Collignon T, Betrains A, Gerbaux M, Willemsen M, Humblet-Baron S, Liston A, Vanderschueren S, Schrijvers R. Monogenic Adult-Onset Inborn Errors of Immunity. Front Immunol 2021;12:753978. [PMID: 34867986 DOI: 10.3389/fimmu.2021.753978] [Reference Citation Analysis]
21 Kumar B, Zetumer S, Swee M, Endelman ELK, Suneja M, Davis B. Reducing Delays in Diagnosing Primary Immunodeficiency Through the Development and Implementation of a Clinical Decision Support Tool: A Study Protocol. JMIR Res Protoc 2021. [PMID: 34587114 DOI: 10.2196/32635] [Reference Citation Analysis]
22 Crow YJ, Stetson DB. The type I interferonopathies: 10 years on. Nat Rev Immunol 2021. [PMID: 34671122 DOI: 10.1038/s41577-021-00633-9] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
23 David C, Frémond ML. [When to consider type I interferonopathy in adulthood?]. Rev Med Interne 2022:S0248-8663(21)01114-0. [PMID: 35177256 DOI: 10.1016/j.revmed.2021.11.003] [Reference Citation Analysis]
24 Salnikova LE, Kolobkov DS, Sviridova DA, Abilev SK. An overview of germline variations in genes of primary immunodeficiences through integrative analysis of ClinVar, HGMD® and dbSNP databases. Hum Genet 2021;140:1379-93. [PMID: 34272616 DOI: 10.1007/s00439-021-02316-w] [Reference Citation Analysis]
25 Grossi A, Miano M, Lanciotti M, Fioredda F, Guardo D, Palmisani E, Terranova P, Santamaria G, Caroli F, Caorsi R, Volpi S, Gattorno M, Dufour C, Ceccherini I. Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients. Genes (Basel) 2021;12:1299. [PMID: 34573280 DOI: 10.3390/genes12091299] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]