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Therapeutic modalities and clinical outcomes in a large cohort with LRBA deficiency and CTLA4 insufficiency.
Taghizade N, Babayeva R, Kara A, Karakus IS, Catak MC, Bulutoglu A, Haskologlu ZS, Akay Haci I, Tunakan Dalgic C, Karabiber E, Bilgic Eltan S, Yorgun Altunbas M, Sefer AP, Sezer A, Kokcu Karadag SI, Arik E, Karali Z, Ozhan Kont A, Tuzer C, Karaman S, Mersin SS, Kasap N, Celik E, Kocacik Uygun DF, Aydemir S, Kiykim A, Aydogmus C, Ozek Yucel E, Celmeli F, Karatay E, Bozkurtlar E, Demir S, Metin A, Karaca NE, Kutukculer N, Aksu G, Guner SN, Keles S, Reisli I, Kendir Demirkol Y, Arikoglu T, Gulez N, Genel F, Kilic SS, Aytekin C, Keskin O, Yildiran A, Ozcan D, Altintas DU, Ardeniz FO, Dogu EF, Ikinciogullari KA, Karakoc-Aydiner E, Ozen A, Baris S. Taghizade N, et al. J Allergy Clin Immunol. 2023 Dec;152(6):1634-1645. doi: 10.1016/j.jaci.2023.08.004. Epub 2023 Aug 16. J Allergy Clin Immunol. 2023. PMID: 37595759
BACKGROUND: LPS-responsive beige-like anchor (LRBA) deficiency (LRBA(-/-)) and cytotoxic T-lymphocyte-associated antigen-4 (CTLA4) insufficiency (CTLA4(+/-)) are mechanistically overlapped diseases presenting with recurrent infections and autoimmunity. ...RESULTS: T …
BACKGROUND: LPS-responsive beige-like anchor (LRBA) deficiency (LRBA(-/-)) and cytotoxic T-lymphocyte-associated antigen-4 (CT …
LRBA in the endomembrane system.
Martínez Jaramillo C, Trujillo-Vargas CM. Martínez Jaramillo C, et al. Colomb Med (Cali). 2018 Sep 30;49(3):236-243. doi: 10.25100/cm.v49i2.3802. Colomb Med (Cali). 2018. PMID: 30410199 Free PMC article. Review.
LRBA deficiency has been shown to affect vesicular trafficking, autophagy and apoptosis, which may lead to alterations of several molecules and processes that play key roles for immunity. In this review, we will discuss the relationship of LRBA with the endovesicula …
LRBA deficiency has been shown to affect vesicular trafficking, autophagy and apoptosis, which may lead to alterations of several mol …
Arf1-dependent LRBA recruitment to Rab4 endosomes is required for endolysosome homeostasis.
Szentgyörgyi V, Lueck LM, Overwijn D, Ritz D, Zoeller N, Schmidt A, Hondele M, Spang A, Bakhtiar S. Szentgyörgyi V, et al. J Cell Biol. 2024 Nov 4;223(11):e202401167. doi: 10.1083/jcb.202401167. Epub 2024 Sep 26. J Cell Biol. 2024. PMID: 39325073 Free PMC article.
We show that LRBA, however, only slightly colocalizes with Rab11. Instead, LRBA is recruited by members of the small GTPase Arf protein family to the TGN and to Rab4+ endosomes, where it controls intracellular traffic. ...Thus, LRBA appears to regulate flow t …
We show that LRBA, however, only slightly colocalizes with Rab11. Instead, LRBA is recruited by members of the small GTPase Ar …
LRBA deficiency: a rare cause of type 1 diabetes, colitis, and severe immunodeficiency.
Kardelen AD, Kara M, Güller D, Ozturan EK, Abalı ZY, Ceylaner S, Kıykım A, Cantez S, Torun SH, Poyrazoglu S, Bas F, Darendelıler F. Kardelen AD, et al. Hormones (Athens). 2021 Jun;20(2):389-394. doi: 10.1007/s42000-020-00257-z. Epub 2020 Nov 5. Hormones (Athens). 2021. PMID: 33155142 Review.
Chronic diarrhea, autoimmune disorders, organomegaly, frequent recurrent infections, hypogammaglobulinemia, chronic lung manifestations, and growth retardation are some features of LRBA deficiency. This rare disease is observed as a result of homozygous mutations in the …
Chronic diarrhea, autoimmune disorders, organomegaly, frequent recurrent infections, hypogammaglobulinemia, chronic lung manifestations, and …
LRBA signalosomes activate vasopressin-induced AQP2 trafficking at recycling endosomes.
Yanagawa H, Hara Y, Ando F, Suzuki S, Fujiki T, Oikawa D, Yui N, Mandai S, Mori Y, Susa K, Mori T, Sohara E, Tokunaga F, Uchida S. Yanagawa H, et al. J Physiol. 2023 Dec;601(23):5437-5451. doi: 10.1113/JP285188. Epub 2023 Oct 20. J Physiol. 2023. PMID: 37860942 Free article.
The loss of LRBA/PKA signalling by Lrba knockout impaired vasopressin-induced AQP2 phosphorylation, resulting in AQP2 retention at the recycling endosome. ...LRBA determined renal responsiveness to vasopressin at recycling endosomes. LRBA is a ubiquito …
The loss of LRBA/PKA signalling by Lrba knockout impaired vasopressin-induced AQP2 phosphorylation, resulting in AQP2 retentio …
Lrba participates in the differentiation of IgA+ B lymphocytes through TGFbetaR signaling.
Flores-Hermenegildo JM, Hernández-Cázares FJ, Pérez-Pérez D, Romero-Ramírez H, Rodríguez-Alba JC, Licona-Limon P, Kilimann MW, Santos-Argumedo L, López-Herrera G. Flores-Hermenegildo JM, et al. Front Immunol. 2024 Jun 21;15:1386260. doi: 10.3389/fimmu.2024.1386260. eCollection 2024. Front Immunol. 2024. PMID: 38975349 Free PMC article.
INTRODUCTION: Lrba is a cytoplasmic protein involved in vesicular trafficking. Lrba-deficient (Lrba-/-) mice exhibit substantially higher levels of IgA in both serum and feces than wild-type (WT) mice. ...TGFbetaR expression on the membrane of B cells was sim …
INTRODUCTION: Lrba is a cytoplasmic protein involved in vesicular trafficking. Lrba-deficient (Lrba-/-) mice exhibit su …
LRBA is essential for urinary concentration and body water homeostasis.
Hara Y, Ando F, Oikawa D, Ichimura K, Yanagawa H, Sakamaki Y, Nanamatsu A, Fujiki T, Mori S, Suzuki S, Yui N, Mandai S, Susa K, Mori T, Sohara E, Rai T, Takahashi M, Sasaki S, Kagechika H, Tokunaga F, Uchida S. Hara Y, et al. Proc Natl Acad Sci U S A. 2022 Jul 26;119(30):e2202125119. doi: 10.1073/pnas.2202125119. Epub 2022 Jul 21. Proc Natl Acad Sci U S A. 2022. PMID: 35862451 Free PMC article.
The leading candidate in this assay proved to be an AKAP termed lipopolysaccharide-responsive and beige-like anchor protein (LRBA). We found that LRBA colocalized with AQP2 in vivo, and Lrba knockout mice displayed a polyuric phenotype with severely impaired …
The leading candidate in this assay proved to be an AKAP termed lipopolysaccharide-responsive and beige-like anchor protein (LRBA). W …
Analysis of LRBA pathogenic variants and the association with functional protein domains and clinical presentation.
Perez-Perez D, Santos-Argumedo L, Rodriguez-Alba JC, Lopez-Herrera G. Perez-Perez D, et al. Pediatr Allergy Immunol. 2024 Jun;35(6):e14179. doi: 10.1111/pai.14179. Pediatr Allergy Immunol. 2024. PMID: 38923448 Review.
LRBA is a cytoplasmic protein that is ubiquitously distributed. Almost all LRBA domains have a scaffolding function. ...This review focuses on the variants reported in LRBA and their possible associations with clinical phenotypes. In this work LRBA def …
LRBA is a cytoplasmic protein that is ubiquitously distributed. Almost all LRBA domains have a scaffolding function. ...This r …
Whole-genome sequencing of patients with rare diseases in a national health system.
Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR; NIHR BioResource for the 100,000 Genomes Project; Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH. Turro E, et al. Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24. Nature. 2020. PMID: 32581362 Free PMC article.
Finally, we identified four novel non-coding variants that cause disease through the disruption of transcription of ARPC1B, GATA1, LRBA and MPL. Our study demonstrates a synergy by using WGS for diagnosis and aetiological discovery in routine healthcare....
Finally, we identified four novel non-coding variants that cause disease through the disruption of transcription of ARPC1B, GATA1, LRBA …
Comprehensive comparison between 222 CTLA-4 haploinsufficiency and 212 LRBA deficiency patients: a systematic review.
Jamee M, Hosseinzadeh S, Sharifinejad N, Zaki-Dizaji M, Matloubi M, Hasani M, Baris S, Alsabbagh M, Lo B, Azizi G. Jamee M, et al. Clin Exp Immunol. 2021 Jul;205(1):28-43. doi: 10.1111/cei.13600. Epub 2021 May 3. Clin Exp Immunol. 2021. PMID: 33788257 Free PMC article.
Cytotoxic T lymphocyte antigen 4 (CTLA-4) haploinsufficiency (CHAI) and lipopolysaccharide-responsive beige-like anchor (LRBA) deficiency (LATAIE) are newly identified inborn errors of immunity with shared molecular pathomechanisms and clinical manifestations. ...
Cytotoxic T lymphocyte antigen 4 (CTLA-4) haploinsufficiency (CHAI) and lipopolysaccharide-responsive beige-like anchor (LRBA) defici …
295 results