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Nacev BA, Sanchez-Vega F, Smith SA, Antonescu CR, Rosenbaum E, Shi HY, Tang C, Socci ND, Rana S, Gularte-Merida R, Zehir A, Gounder MM, Bowler TG, Luthra A, Jadeja B, Okada A, Strong JA, Stoller J, Chan JE, Chi P, D'Angelo SP, Dickson MA, Kelly CM, Keohan ML, Movva S, Thornton K, Meyers PA, Wexler LH, Slotkin EK, Bender JLG, Shukla NN, Hensley ML, Healey JH, La Quaglia MP, Alektiar KM, Crago AM, Yoon SS, Untch BR, Chiang S, Agaram NP, Hameed MR, Berger MF, Solit DB, Schultz N, Ladanyi M, Singer S, Tap WD
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Clinical sequencing of soft tissue and bone sarcomas delineates diverse genomic landscapes and potential therapeutic targets
NATURE COMMUNICATIONS 2022 JUN 15; 13(1):? Article 3405
Sarcomas are rare tumours with many different subtypes and clinical outcomes; a broader knowledge of their genetic features is required. Here, the authors analyse 2138 soft tissue and bone sarcomas across 45 subtypes using MSK-IMPACT targeted sequencing and find genomic groups that are distinct from histological subgroups. The genetic, biologic, and clinical heterogeneity of sarcomas poses a challenge for the identification of therapeutic targets, clinical research, and advancing patient care. Because there are > 100 sarcoma subtypes, in-depth genetic studies have focused on one or a few subtypes. Herein, we report a comparative genetic analysis of 2,138 sarcomas representing 45 pathological entities. This cohort is prospectively analyzed using targeted sequencing to characterize subtype-specific somatic alterations in targetable pathways, rates of whole genome doubling, mutational signatures, and subtype-agnostic genomic clusters. The most common alterations are in cell cycle control and TP53, receptor tyrosine kinases/PI3K/RAS, and epigenetic regulators. Subtype-specific associations include TERT amplification in intimal sarcoma and SWI/SNF alterations in uterine adenosarcoma. Tumor mutational burden, while low compared to other cancers, varies between and within subtypes. This resource will improve sarcoma models, motivate studies of subtype-specific alterations, and inform investigations of genetic factors and their correlations with treatment response.
Garshick MS, Drenkova K, Barrett TJ, Schlamp F, Fisher EA, Katz S, Jelic S, Neimann AL, Scher JU, Krueger J, Berger JS
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A Randomized Open-Label Clinical Trial of Lipid-Lowering Therapy in Psoriasis to Reduce Vascular Endothelial Inflammation
JOURNAL OF INVESTIGATIVE DERMATOLOGY 2022 JUN; 142(6):1749-1752
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O, Tekten S, Yetkin EA, Cakir A, Cankocak K, Komurcu Y, Sen S, Cerci S, Hos I, Isildak B, Kaynak B, Ozkorucuklu S, Sert H, Simsek C, Cerci DS, Zorbilmez C, Grynyov B, Levchuk L, Anthony D, Bhal E, Bologna S, Brooke JJ, Bundock A, Clement E, Cussans D, Flacher H, Glowacki M, Goldstein J, Heath GP, Heath HF, Kreczko L, Krikler B, Paramesvaran S, El Nasr-Storey SS, Smith VJ, Pass KW, White R, Bell KW, Brew C, Brown RM, Cockerill DJA, Cooke C, Ellis KV, Harder K, Harper S, Holmberg ML, Linacre J, Manolopoulos K, Newbold DM, Olaiya E, Petyt D, Reis T, Schuh T, Shepherd-Themistocleous CH, Tomalin IR, Williams T, Bainbridge R, Bloch P, Bonomally S, Borg J, Breeze S, Buchmuller O, Cepaitis V, Chahal GS, Colling D, Dauncey P, Davies G, Della Negra M, Fayer S, Fedi G, Hall G, Hassanshahi MH, Iles G, Langford J, Lyons L, Magnan AM, Malik S, Martelli A, Monk DG, Nash J, Pesaresi M, Radburn-Smith BC, Raymond DM, Richards A, Rose A, Scott E, Seez C, Shtipliyski A, Tapper A, Uchida K, Vojinovic M, Wardle N, Webb SN, Winterbottom D, Coldham K, Cole JE, Khan A, Kyberd P, Reid ID, Teodorescu L, Zahid S, Abdullin S, Brinkerhoff A, Caraway B, Dittmann J, Hatakeyama K, Kanuganti AR, McMaster B, Saunders M, Sawant S, Sutantawibul C, Wilson J, Bartek R, Dominguez A, Uniyal R, Hernandez AMV, Buccilli A, Cooper SI, Di Croce D, Gleyzer SV, Henderson C, Perez CU, West C, Akpinar A, Albert A, Arcaro D, Cosby C, Demiragli Z, Fontanesi E, Gastler D, May S, Rohlf J, Salyer K, Sperka D, Spitzbart D, Suarez I, Tsatsos A, Yuan S, Zou D, Benelli G, Burkle B, Cutts D, Hadley M, Heintz U, Hogan JM, Kwon T, Landsberg G, Lau KT, Li D, Lukasik M, Luo J, Narain M, Pervan N, Sagir S, Simpson F, Usai E, Wong WY, Yan X, Yu D, Zhang W, Bonilla J, Brainerd C, Breedon R, Sanchez MCD, Chertok M, Conway J, Cox PT, Erbacher R, Haza G, Jensen F, Kukral O, Lander R, Mulhearn M, Pellett D, Regnery B, Taylor D, Yao Y, Zhang F, Bachtis M, Cousins R, Datta A, Hamilton D, Hauser J, Ignatenko M, Iqbal MA, Lam T, Nash WA, Regnard S, Saltzberg D, Stone B, Valuev V, Chen Y, Clare R, Gary JW, Gordon M, Hanson G, Karapostoli G, Long OR, Manganelli N, Si W, Wimpenny S, Branson JG, Chang P, Cittolin S, Cooperstein S, Diaz D, Duarte J, Gerosa R, Giannini L, Guiang J, Kansal R, Krutelyov V, Lee R, Letts J, Masciovecchio M, Mokhtar F, Pieri M, Narayanan BVS, Sharma V, Tadel M, Wurthwein F, Xiang Y, Yagil A, Amin N, Campagnari C, Citron M, Collura G, Dorsett A, Dutta V, Incandela J, Kilpatrick M, Marsh B, Mei H, Oshiro M, Quinnan M, Richman J, Sarica U, Setti F, Sheplock J, Siddireddy P, Stuart D, Wang S, Bornheim A, Cerri O, Dutta I, Lawhorn JM, Lu N, Mao J, Newman HB, Nguyen TQ, Spiropulu M, Vlimant JR, Wang C, Xie S, Zhang Z, Zhu RY, Pena C, Alison J, An S, Andrews MB, Bryant P, Ferguson T, Harilal A, Liu C, Mudholkar T, Paulini M, Sanchez A, Terrill W, Cumalat JP, Ford WT, Hassani A, Karathanasis G, MacDonald E, Patel R, Perloff A, Savard C, Schonbeck N, Stenson K, Ulmer KA, Wagner SR, Zipper N, Alexander J, Bright-Thonney S, Chen X, Cheng Y, Cranshaw DJ, Hogan S, Monroy J, Patterson JR, Quach D, Reichert J, Reid M, Ryd A, Sun W, Thom J, Wittich P, Zou R, Albrow M, Alyari M, Apollinari G, Apresyan A, Apyan A, Bauerdick LAT, Berry D, Berryhill J, Bhat PC, Burkett K, Butler JN, Canepa A, Cerati GB, Cheung HWK, Chlebana F, Di Petrillo KF, Dickinson J, Elvira VD, Feng Y, Freeman J, Gecse Z, Gray L, Green D, Grunendahl S, Gutsche O, Harris RM, Heller R, Herwig TC, Hirschauer J, Jayatilaka B, Jindariani S, Johnson M, Joshi U, Klijnsma T, Klima B, Kwok KHM, Lammel S, Lincoln D, Lipton R, Liu T, Madrid C, Maeshima K, Mantilla C, Mason D, McBride P, Merkel P, Mrenna S, Nahn S, Ngadiuba J, Papadimitriou V, Pastika N, Pedro K, Ravera F, Hall AR, Ristori L, Sexton-Kennedy E, Smith N, Soha A, Spiegel L, Stoynev S, Strait J, Taylor L, Tkaczyk S, Tran NV, Uplegger L, Vaandering EW, Weber HA, Avery P, Bourilkov D, Cadamuro L, Cherepanov V, Field RD, Guerrero D, Kim M, Koenig E, Konigsberg J, Korytov A, Lo KH, Matchev K, Menendez N, Mitselmakher G, Madhu AM, Rawal N, Rosenzweig D, Rosenzweig S, Shi K, Wu Z, Yigitbasi E, Zuo X, Adams T, Askew A, Habibullah R, Hagopian V, Johnson KF, Khurana R, Kolberg T, Martinez G, Prosper H, Schiber C, Viazlo O, Yohay R, Zhang J, Baarmand MM, Butalla S, Elkafrawy T, Hohlmann M, Verma RK, Noonan D, Rahmani M, Yumiceva F, Adams MR, Gonzalez HB, Cavanaugh R, Dittmer S, Evdokimov O, Gerber CE, Hofman DJ, Merrit AH, Mills C, Oh G, Roy T, Rudrabhatla S, Tonjes MB, Varelas N, Viinikainen J, Wang X, Ye Z, Alhusseini M, Dilsiz K, Emediato L, Gandrajula RP, Koseyan OK, Merlo JP, Nachtman J, Ogul H, Onel Y, Penzo A, Snyder C, Tiras E, Amram O, Blumenfeld B, Corcodilos L, Davis J, Gritsan AV, Kyriacou S, Maksimovic P, Roskes J, Swartz M, Vami TA, Abreu A, Anguiano J, Barrera CB, Baringer P, Bean A, Flowers Z, Isidori T, Khalil S, King J, Krintiras G, Kropivnitskaya A, Lazarovits M, Le Mahieu C, Lindsey C, Marquez J, Minafra N, Murray M, Nickel M, Rogan C, Royon C, Salvatico R, Sanders S, Schmitz E, Smith C, Warner Z, Williams J, Wilson G, Duric S, Ivanov A, Kaadze K, Kim D, Maravin Y, Mitchell T, Modak A, Nam K, Rebassoo F, Wright D, Adams E, Baden A, Baron O, Belloni A, Eno SC, Hadley NJ, Jabeen S, Kellogg RG, Koeth T, Lai Y, Lascio S, Mignerey AC, Nabili S, Palmer C, Seidel M, Skuja A, Wang L, Wong K, Abercrombie D, Andreassi G, Bi R, Busza W, Cali IA, D'Alfonso M, Eysermans J, Freer C, Ceballos GG, Goncharov M, Harris P, Hu M, Klute M, Kovalskyi D, Krupa J, Lee YJ, Mironov C, Paus C, Rankin D, Roland C, Roland G, Shi Z, Stephans GSF, Wang Z, Wyslouch B, Chatterjee RM, Evans A, Hiltbrand J, Jain S, Joshi BM, Krohn M, Kubota Y, Mans J, Revering M, Rusack R, Saradhy R, Schroeder N, Strobbe N, Wadud MA, Bloom K, Bryson M, Claes DR, Fangmeier C, Finco L, Golf F, Joo C, Kravchenko I, Reed I, Siado JE, Snow GR, Tabb W, Wightman A, Yan F, Zecchinelli AG, Agarwal G, Bandyopadhyay H, Hay L, Iashvili I, Kharchilava A, McLean C, Nguyen D, Pekkanen J, Rappoccio S, Williams A, Alverson G, Barberis E, Haddad Y, Han Y, Hortiangtham A, Krishna A, Li J, Lidrych J, Madigan G, Marzocchi B, Morse DM, Nguyen V, Orimoto T, Parker A, Skinnari L, Tishelman-Charny A, Wamorkar T, Wang B, Wisecarver A, Wood D, Bueghly J, Chen Z, Gilbert A, Gunter T, Hahn KA, Liu Y, Odell N, Schmitt MH, Velasco M, Band R, Bucci R, Cremonesi M, Das A, Dev N, Goldouzian R, Hildreth M, Anampa KH, Jessop C, Lannon K, Lawrence J, Loukas N, Lutton D, Mariano J, Marinelli N, Mcalister I, McCauley T, Mcgrady C, Mohrman K, Moore C, Ruchti R, Townsend A, Wayne M, Zarucki M, Zygala L, Bylsma B, Durkin LS, Francis B, Hill C, Ornelas MN, Wei K, Winer BL, Yates BR, Addesa FM, Bonham B, Das P, Dezoort G, Elmer P, Frankenthal A, Greenberg B, Haubrich N, Higginbotham S, Kalogeropoulos A, Kopp G, Kwan S, Lange D, Marlow D, Mei K, Ojalvo I, Olsen J, Stickland D, Tully C, Norberg S, Bakshi AS, Barnes VE, Chawla R, Das S, Gutay L, Jones M, Jung AW, Kondratyev D, Koshy AM, Liu M, Negro G, Neumeister N, Paspalaki G, Piperov S, Purohit A, Schulte JF, Stojanovic M, Thieman J, Wang F, Xiao R, Xie W, Dolen J, Parashar N, Acosta D, Baty A, Carnahan T, Decaro M, Dildick S, Ecklund KM, Freed S, Gardner P, Geurts FJM, Li W, Padley BP, Redjimi R, Rotter J, Shi W, Leiton AGS, Bodek A, de Barbaro P, Demina R, Dulemba JL, Fallon C, Ferbel T, Galanti M, Garcia-Bellido A, Hindrichs O, Khukhunaishvili A, Ranken E, Tan CL, Taus R, Van Onsem GP, Goulianos K, Chiarito B, Chou JP, Gandrakota A, Gershtein Y, Halkiadakis E, Hart A, Heindl M, Karacheban O, Laflotte I, Lath A, Montalvo R, Nash K, Osherson M, Salur S, Schnetzer S, Somalwar S, Stone R, Thayil SA, Thomas S, Wang H, Acharya H, Delannoy AG, Fiorendi S, Spanier S, Bouhali O, Dalchenko M, Delgado A, Eusebi R, Gilmore J, Huang T, Luo S, Malhotra S, Mueller R, Overton D, Rathjens D, Safonov A, Akchurin N, Damgov J, Hegde V, Lamichhane K, Mengke T, Muthumuni S, Peltola T, Volobouev I, Whitbeck A, Appelt E, Greene S, Gurrola A, Johns W, Melo A, Padeken K, Romeo F, Sheldon P, Tuo S, Velkovska J, Arenton MW, Cardwell B, Cox B, Cummings G, Hakala J, Hirosky R, Joyce M, Ledovskoy A, Li A, Neu C, Lara CEP, Tannenwald B, White S, Poudyal N, Black K, Bose T, Dasu S, De Bruyn I, Everaerts P, Galloni C, He H, Herndon M, Herve A, Hussain U, Lanaro A, Loeliger A, Loveless R, Sreekala JM, Mallampalli A, Mohammadi A, Pinna D, Savin A, Shang V, Smith WH, Teague D, Trembath-Reichert S, Vetens W
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Search for resonant production of strongly coupled dark matter in proton-proton collisions at 13 TeV
JOURNAL OF HIGH ENERGY PHYSICS 2022 JUN 29; ?(6):? Article 156
The first collider search for dark matter arising from a strongly coupled hidden sector is presented and uses a data sample corresponding to 138 fb(-1), collected with the CMS detector at the CERN LHC, at root s = 13 TeV. The hidden sector is hypothesized to couple to the standard model (SM) via a heavy leptophobic Z' mediator produced as a resonance in proton-proton collisions. The mediator decay results in two "semivisible" jets, containing both visible matter and invisible dark matter. The final state therefore includes moderate missing energy aligned with one of the jets, a signature ignored by most dark matter searches. No structure in the dijet transverse mass spectra compatible with the signal is observed. Assuming the Z' boson has a universal coupling of 0.25 to the SM quarks, an inclusive search, relevant to any model that exhibits this kinematic behavior, excludes mediator masses of 1.5-4.0 TeV at 95% confidence level, depending on the other signal model parameters. To enhance the sensitivity of the search for this particular class of hidden sector models, a boosted decision tree (BDT) is trained using jet substructure variables to distinguish between semivisible jets and SM jets from background processes. When the BDT is employed to identify each jet in the dijet system as semivisible, the mediator mass exclusion increases to 5.1 TeV, for wider ranges of the other signal model parameters. These limits exclude a wide range of strongly coupled hidden sector models for the first time.
Serganov AA, Udi Y, Stein ME, Patel V, Fridy PC, Rice CM, Saeed M, Jacobs EY, Chait BT, Rout MP
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Proteomic elucidation of the targets and primary functions of the picornavirus 2A protease
JOURNAL OF BIOLOGICAL CHEMISTRY 2022 JUN; 298(6):? Article 101882
Picornaviruses are small RNA viruses that hijack host cell machinery to promote their replication. During infection, these viruses express two proteases, 2Apro and 3Cpro, which process viral proteins. They also subvert a number of host functions, including innate immune responses, host protein synthesis, and intracellular transport, by utilizing poorly understood mechanisms for rapidly and specifically targeting critical host proteins. Here, we used proteomic tools to characterize 2Apro interacting partners, functions, and targeting mechanisms. Our data indicate that, initially, 2Apro primarily targets just two cellular proteins: eukaryotic translation initiation factor eIF4G (a critical component of the protein synthesis machinery) and Nup98 (an essential component of the nuclear pore complex, responsible for nucleocytoplasmic transport). The protease appears to employ two different cleavage mechanisms; it likely interacts with eIF3L, utilizing the eIF3 complex to proteolytically access the eIF4G protein but also directly binds and degrades Nup98. This Nup98 cleavage results in only a marginal effect on nuclear import of proteins, while nuclear export of proteins and mRNAs were more strongly affected. Collectively, our data indicate that 2Apro selectively inhibits protein translation, key nuclear export pathways, and cellular mRNA localization early in infection to benefit viral replication at the expense of particular cell functions.
Zhang Q, Matuozzo D, Le Pen J, Lee D, Moens L, Asano T, Bohlen J, Liu ZY, Moncada-Velez M, Kendir-Demirkol Y, Jing HE, Bizien L, Marchal A, Abolhassani H, Delafontaine S, Bucciol G, Bayhan GI, Keles S, Kiykim A, Hancerli S, Haerynck F, Florkin B, Hatipoglu N, Ozcelik T, Morelle G, Zatz M, Ng LFP, Lye DC, Young BE, Leo YS, Dalgard CL, Lifton RP, Renia L, Meyts I, Jouanguy E, Hammarstrom L, Pan-Hammarstrom Q, Boisson B, Bastard P, Su HC, Boisson-Dupuis S, Abel L, Rice CM, Zhang SY, Cobat A, Casanova JL
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Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia
JOURNAL OF EXPERIMENTAL MEDICINE 2022 JUN 16; 219(8):? Article e20220131
In an international cohort of 112 children hospitalized for moderate to critical COVID-19 pneumonia, we identified 12 children with one of four known recessive inborn errors of type I interferon immunity: X-linked TLR7 and autosomal IFNAR1, STAT2, and TYK2 deficiencies. Recessive or dominant inborn errors of type I interferon (IFN) immunity can underlie critical COVID-19 pneumonia in unvaccinated adults. The risk of COVID-19 pneumonia in unvaccinated children, which is much lower than in unvaccinated adults, remains unexplained. In an international cohort of 112 children (<16 yr old) hospitalized for COVID-19 pneumonia, we report 12 children (10.7%) aged 1.5-13 yr with critical (7 children), severe (3), and moderate (2) pneumonia and 4 of the 15 known clinically recessive and biochemically complete inborn errors of type I IFN immunity: X-linked recessive TLR7 deficiency (7 children) and autosomal recessive IFNAR1 (1), STAT2 (1), or TYK2 (3) deficiencies. Fibroblasts deficient for IFNAR1, STAT2, or TYK2 are highly vulnerable to SARS-CoV-2. These 15 deficiencies were not found in 1,224 children and adults with benign SARS-CoV-2 infection without pneumonia (P = 1.2 x 10(-11)) and with overlapping age, sex, consanguinity, and ethnicity characteristics. Recessive complete deficiencies of type I IFN immunity may underlie similar to 10% of hospitalizations for COVID-19 pneumonia in children.
Dong WL, Kaymakcalan H, Jin SC, Diab NS, Tanidir C, Yalcin ASY, Ercan-Sencicek AG, Mane S, Gunel M, Lifton RP, Bilguvar K, Brueckner M
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Mutation spectrum of congenital heart disease in a consanguineous Turkish population
MOLECULAR GENETICS & GENOMIC MEDICINE 2022 JUN; 10(6):? Article e1944
Backgrounds: While many studies agree that consanguinity increases the rate of congenital heart disease (CHD), few genome analyses have been conducted with consanguineous CHD cohorts. Methods: We recruited 73 CHD probands from consanguineous families in Turkey and used whole-exome sequencing (WES) to identify genetic lesions in these patients. Results: On average, each patient had 6.95 rare damaging homozygous variants, 0.68 of which are loss-of-function (LoF) variants. Seven patients (9.6%) carried damaging homozygous variants in five causal CHD genes. Six of those patients exhibited laterality defects (six HTX and one D-TGA). Three additional patients (4.1%) harbored other types of CHD-associated genomic alterations, which overall explained 13.7% (10/73) of the cohort. The contribution from recessive variants in our cohort is higher than 1.8% reported from a cohort of 2871 CHD subjects where 5.6% of subjects met the criteria for consanguinity. Conclusions: Our WES screen of a Turkish consanguineous population with structural CHD revealed its unique genetic architecture. Six of seven damaging homozygous variants in CHD causal genes occur in the setting of laterality defects implies a strong contribution from consanguinity to these defects specifically. Our study thus provided valuable information about the genetic landscape of CHD in consanguineous families in Turkey.
Suryawanshi H, Max K, Bogardus KA, Sopeyin A, Chang MS, Morozov P, Castano PM, Tuschl T, Williams Z
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Dynamic genome-wide gene expression and immune cell composition in the developing human placenta
JOURNAL OF REPRODUCTIVE IMMUNOLOGY 2022 JUN; 151(?):? Article 103624
Despite the central role of the placenta in supporting a pregnancy, relatively little is known about transcriptomic and immune-cell changes that occur across gestation. To generate a reference gene expression map of first (T1), second (T2) and third (T3) trimester human placenta, and assess differences in transcriptome in maternal versus fetal side tissues sections of full-term placenta, we performed RNA-Seq analysis on 64 biopsy samples from 18 placentas across all three gestations. We identified 1120 differentially expressed genes in placenta tissues from T1 and T3 samples using a generalized linear model within DESeq2. In total, 411 and 709 genes were positively associated with T1 and T3 placenta, respectively. Comparison of the top 200 differentially expressed genes in the T1 placenta with T3 showed that most of the top enriched biological processes were related to cell division and proliferation. T1 and T2 tissues shared expression of fibroblast-specific COL6A2, HGF, and SPP1 genes. In T3 samples, the expression of genes relating to vasculature development and regulation were highly enriched. Monocytes and NK cell population increased in T3 compared to T1 and T2, whereas Hofbauer cell proportion expanded significantly in T2 and then decreased in T3 samples. There were no significant gene expression dif-ferences in the maternal vs. fetal side in T3 placentas. Gene expression patterns shift temporally across trimesters but not spatially across the placenta, at least at the resolution of the biopsy samples. The genes and gene set we identified here represent a valuable resource for studying pathology in pregnancy-related disorders.
Zhao ZL, Zung JL, Hinze A, Kriete AL, Iqbal A, Younger MA, Matthews BJ, Merhof D, Thiberge S, Ignell R, Strauch M, McBride CS
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Mosquito brains encode unique features of human odour to drive host seeking
NATURE 2022 MAY 26; 605(7911):706-+
A globally invasive form of the mosquito Aedes aegypti specializes in biting humans, making it an efficient disease vector(1). Host-seeking female mosquitoes strongly prefer human odour over the odour of animals(2,3), but exactly how they distinguish between the two is not known. Vertebrate odours are complex blends of volatile chemicals with many shared components(4-7), making discrimination an interesting sensory coding challenge. Here we show that human and animal odours evoke activity in distinct combinations of olfactory glomeruli within the Ae. aegypti antennal lobe. One glomerulus in particular is strongly activated by human odour but responds weakly, or not at all, to animal odour. This human-sensitive glomerulus is selectively tuned to the long-chain aldehydes decanal and undecanal, which we show are consistently enriched in human odour and which probably originate from unique human skin lipids. Using synthetic blends, we further demonstrate that signalling in the human-sensitive glomerulus significantly enhances long-range host-seeking behaviour in a wind tunnel, recapitulating preference for human over animal odours. Our research suggests that animal brains may distil complex odour stimuli of innate biological relevance into simple neural codes and reveals targets for the design of next-generation mosquito-control strategies.
Brodin P, Casari G, Townsend L, O'Farrelly C, Tancevski I, Loffler-Ragg J, Mogensen TH, Casanova JL
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Studying severe long COVID to understand post-infectious disorders beyond COVID-19
NATURE MEDICINE 2022 MAY; 28(5):879-882
Paccoud O, Vignier N, Boui M, Migaud M, Vironneau P, Kania R, Mechai F, Brun S, Alanio A, Tauziede-Espariat A, Adle-Biassette H, Ouedraogo E, Bustamante J, Bouchaud O, Casanova JL, Puel A, Lanternier F
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Invasive Rhinosinusitis Caused by Alternaria infectoria in a Patient with Autosomal Recessive CARD9 Deficiency and a Review of the Literature
JOURNAL OF FUNGI 2022 MAY; 8(5):? Article 446
Phaeohyphomycoses comprise a heterogeneous group of fungal infections caused by dematiaceous fungi and have primarily been reported in patients with underlying acquired immunodeficiencies, such as hematological malignancies or solid-organ transplants. Over the past decade, a growing number of patients with phaeohyphomycosis but otherwise healthy were reported with autosomal recessive (AR) CARD9 deficiency. We report a 28-year-old woman who presented with invasive rhinosinusitis caused by Alternaria infectoria. Following a candidate gene sequencing approach, we identified a biallelic loss-of-function mutation of CARD9, thereby further broadening the spectrum of invasive fungal diseases found in patients with inherited CARD9 deficiency. In addition, we reviewed 17 other cases of phaeohyphomycosis associated with AR CARD9 deficiency. Physicians should maintain a high degree of suspicion for inborn errors of immunity, namely CARD9 deficiency, when caring for previously healthy patients with phaeohyphomycosis, regardless of age at first presentation.