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Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia.
García-García A, Pérez de Diego R, Flores C, Rinchai D, Solé-Violán J, Deyà-Martínez À, García-Solis B, Lorenzo-Salazar JM, Hernández-Brito E, Lanz AL, Moens L, Bucciol G, Almuqamam M, Domachowske JB, Colino E, Santos-Perez JL, Marco FM, Pignata C, Bousfiha A, Turvey SE, Bauer S, Haerynck F, Ocejo-Vinyals JG, Lendinez F, Prader S, Naumann-Bartsch N, Pachlopnik Schmid J, Biggs CM, Hildebrand K, Dreesman A, Cárdenes MÁ, Ailal F, Benhsaien I, Giardino G, Molina-Fuentes A, Fortuny C, Madhavarapu S, Conway DH, Prando C, Schidlowski L, Martínez de Saavedra Álvarez MT, Alfaro R, Rodríguez de Castro F; ESID Registry Working Party; COVID Human Genetic Effort; Meyts I, Hauck F, Puel A, Bastard P, Boisson B, Jouanguy E, Abel L, Cobat A, Zhang Q, Casanova JL, Alsina L, Rodríguez-Gallego C. García-García A, et al. J Exp Med. 2023 May 1;220(5):e20220170. doi: 10.1084/jem.20220170. Epub 2023 Mar 3. J Exp Med. 2023. PMID: 36880831 Free PMC article.
We report 22 unvaccinated patients with autosomal recessive MyD88 or IRAK-4 deficiency infected with SARS-CoV-2 (mean age: 10.9 yr; 2 mo to 24 yr), originating from 17 kindreds from eight countries on three continents. 16 patients were hospitalized: six with …
We report 22 unvaccinated patients with autosomal recessive MyD88 or IRAK-4 deficiency infected with SARS-CoV-2 (mean a …
The expansion of human T-bethighCD21low B cells is T cell dependent.
Keller B, Strohmeier V, Harder I, Unger S, Payne KJ, Andrieux G, Boerries M, Felixberger PT, Landry JJM, Nieters A, Rensing-Ehl A, Salzer U, Frede N, Usadel S, Elling R, Speckmann C, Hainmann I, Ralph E, Gilmour K, Wentink MWJ, van der Burg M, Kuehn HS, Rosenzweig SD, Kölsch U, von Bernuth H, Kaiser-Labusch P, Gothe F, Hambleton S, Vlagea AD, Garcia Garcia A, Alsina L, Markelj G, Avcin T, Vasconcelos J, Guedes M, Ding JY, Ku CL, Shadur B, Avery DT, Venhoff N, Thiel J, Becker H, Erazo-Borrás L, Trujillo-Vargas CM, Franco JL, Fieschi C, Okada S, Gray PE, Uzel G, Casanova JL, Fliegauf M, Grimbacher B, Eibel H, Ehl S, Voll RE, Rizzi M, Stepensky P, Benes V, Ma CS, Bossen C, Tangye SG, Warnatz K. Keller B, et al. Sci Immunol. 2021 Oct 15;6(64):eabh0891. doi: 10.1126/sciimmunol.abh0891. Epub 2021 Oct 8. Sci Immunol. 2021. PMID: 34623902
Disturbed TLR signaling due to MyD88 or IRAK4 deficiency was not associated with reduced CD21(low) B cell proportions. The expansion of human T-bet(high)CD21(low) B cells correlated with an expansion of circulating T follicular helper 1 (cTfh1) and T peripheral help …
Disturbed TLR signaling due to MyD88 or IRAK4 deficiency was not associated with reduced CD21(low) B cell proportions. The exp …
Biallelic TLR4 deficiency in humans.
Capitani M, Al-Shaibi AA, Pandey S, Gartner L, Taylor H, Hubrack SZ, Agrebi N, Al-Mohannadi MJ, Al Kaabi S, Vogl T, Roth J, Kotlarz D, Klein C, Charles AK, Vijayakumar V, Karim MY, George B, Travis SP, Elawad M, Lo B, Uhlig HH. Capitani M, et al. J Allergy Clin Immunol. 2023 Mar;151(3):783-790.e5. doi: 10.1016/j.jaci.2022.08.030. Epub 2022 Nov 30. J Allergy Clin Immunol. 2023. PMID: 36462956 Free article.
This complements the spectrum of known primary immunodeficiencies, in particular myeloid differentiation primary response 88 (MYD88) or the IL-1 receptor-associated kinase 4 (IRAK4) deficiency that are downstream of TLR4 and TLR2 signaling....
This complements the spectrum of known primary immunodeficiencies, in particular myeloid differentiation primary response 88 (MYD88) or the …
Intraocular Inflammation Associated with IRAK4 Deficiency.
Gonzales JA, Nortey J, Reddy A, Doan T, Acharya NR. Gonzales JA, et al. Ocul Immunol Inflamm. 2023 May;31(4):874-876. doi: 10.1080/09273948.2022.2059523. Epub 2022 Apr 20. Ocul Immunol Inflamm. 2023. PMID: 35442872 Free article. No abstract available.
Delayed Presentation of IRAK4 Deficiency.
Sacta MA, Lee J. Sacta MA, et al. J Clin Immunol. 2024 May 17;44(5):122. doi: 10.1007/s10875-024-01729-2. J Clin Immunol. 2024. PMID: 38758474 No abstract available.
Salmonella Osteomyelitis Due to IRAK-4 Deficiency.
Turkyilmaz Ucar O, Naiboglu S, Sarikavak SK, Ulas S, Turan I, Ayaz A, Al S, Gokmirza Ozdemir P, Celiksoy MH, Aydogmus C. Turkyilmaz Ucar O, et al. J Pediatr Hematol Oncol. 2024 Jul 1;46(5):275-276. doi: 10.1097/MPH.0000000000002887. Epub 2024 Jun 10. J Pediatr Hematol Oncol. 2024. PMID: 38857180 No abstract available.
Clinical IRAK4 deficiency caused by homozygosity for the novel IRAK4 (c.1049delG, p.Gly350Glufs*15) variant.
Jia A, James E, Lu HY, Sharma M, Modi BP, Biggs CM, Hildebrand KJ, Chomyn A, Erdle S, Kular H, Turvey SE. Jia A, et al. Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3):a005298. doi: 10.1101/mcs.a005298. Print 2020 Jun. Cold Spring Harb Mol Case Stud. 2020. PMID: 32532880 Free PMC article.
The Myddosome complex initiates signal transduction pathways enabling the activation of NF-kappaB and mitogen-activated protein kinase (MAPK) transcription factors and the subsequent production of inflammatory cytokines. Human IRAK4 deficiency is an autosomal recess …
The Myddosome complex initiates signal transduction pathways enabling the activation of NF-kappaB and mitogen-activated protein kinase (MAPK …
IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation.
Nishimura S, Kobayashi Y, Ohnishi H, Moriya K, Tsumura M, Sakata S, Mizoguchi Y, Takada H, Kato Z, Sancho-Shimizu V, Picard C, Irani SR, Ohara O, Casanova JL, Puel A, Ishikawa N, Okada S, Kobayashi M. Nishimura S, et al. J Clin Immunol. 2021 Jan;41(1):125-135. doi: 10.1007/s10875-020-00885-5. Epub 2020 Oct 20. J Clin Immunol. 2021. PMID: 33083971 Free PMC article.
IRAK4 deficiency is an inborn error of immunity predisposing patients to invasive pyogenic infections. ...Only a few infantile cases with anti-NMDAR encephalitis have been so far reported. We identified a 10-month-old boy with IRAK4 deficiency presenti …
IRAK4 deficiency is an inborn error of immunity predisposing patients to invasive pyogenic infections. ...Only a few infantile …
Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in IRAK4.
Cooray S, Price-Kuehne F, Hong Y, Omoyinmi E, Burleigh A, Gilmour KC, Ahmad B, Choi S, Bahar MW, Torpiano P, Gagunashvili A, Jensen B, Bellos E, Sancho-Shimizu V, Herberg JA, Mankad K, Kumar A, Kaliakatsos M, Worth AJJ, Eleftheriou D, Whittaker E, Brogan PA. Cooray S, et al. Front Immunol. 2023 Sep 6;14:1231749. doi: 10.3389/fimmu.2023.1231749. eCollection 2023. Front Immunol. 2023. PMID: 37744344 Free PMC article.
In humans, bi-allelic mutations in IRAK4 result in IRAK-4 deficiency and increased susceptibility to pyogenic bacterial infections, but autoinflammation has never been described. ...
In humans, bi-allelic mutations in IRAK4 result in IRAK-4 deficiency and increased susceptibility to pyogenic bacterial …
Inherited IRAK-4 Deficiency in Acute Human Herpesvirus-6 Encephalitis.
Tepe ZG, Yazıcı YY, Tank U, Köse LI, Özer M, Aytekin C, Belkaya S. Tepe ZG, et al. J Clin Immunol. 2023 Jan;43(1):192-205. doi: 10.1007/s10875-022-01369-4. Epub 2022 Oct 7. J Clin Immunol. 2023. PMID: 36205835 Free PMC article.
This study represents the first report of isolated acute HHV-6 infection causing encephalitis in an inherited primary immunodeficiency, notably autosomal recessive (AR) partial IRAK-4 deficiency, and the first report of AR IRAK-4 deficiency …
This study represents the first report of isolated acute HHV-6 infection causing encephalitis in an inherited primary immunodeficiency, nota …
58 results