22q11.2 Deletion-Associated Blood-Brain Barrier Permeability Potentiates Systemic Capillary Leak Syndrome Neurologic Features

Gur RE, Bassett AS, McDonald-McGinn DM, Bearden CE, Chow E, Emanuel BS, et al. A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 deletion syndrome brain Behavior Consortium. Mol Psychiatry. 2017;22(12):1664–72.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sullivan KE. The clinical, immunological, and molecular spectrum of chromosome 22q11.2 deletion syndrome and DiGeorge syndrome. Curr Opin Allergy Clin Immunol. 2004;4(6):505–12.

Article  PubMed  Google Scholar 

Tang SX, Yi JJ, Calkins ME, Whinna DA, Kohler CG, Souders MC, et al. Psychiatric disorders in 22q11.2 deletion syndrome are prevalent but undertreated. Psychol Med. 2014;44(6):1267–77.

Article  CAS  PubMed  Google Scholar 

McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, et al. 22q11.2 deletion syndrome. Nat Rev Dis Primers. 2015;1:15071.

Article  PubMed  PubMed Central  Google Scholar 

Arinami T. Analyses of the associations between the genes of 22q11 deletion syndrome and schizophrenia. J Hum Genet. 2006;51(12):1037–45.

Article  CAS  PubMed  Google Scholar 

Cioffi S, Martucciello S, Fulcoli FG, Bilio M, Ferrentino R, Nusco E, et al. Tbx1 regulates brain vascularization. Hum Mol Genet. 2014;23(1):78–89.

Article  CAS  PubMed  Google Scholar 

Karayiorgou M, Gogos JA. The molecular genetics of the 22q11-associated schizophrenia. Brain Res Mol Brain Res. 2004;132(2):95–104.

Article  CAS  PubMed  Google Scholar 

Greene C, Hanley N, Campbell M. Claudin-5: gatekeeper of neurological function. Fluids Barriers CNS. 2019;16(1):3.

Article  PubMed  PubMed Central  Google Scholar 

Abbott NJ. Inflammatory mediators and modulation of blood-brain barrier permeability. Cell Mol Neurobiol. 2000;20(2):131–47.

Article  CAS  PubMed  Google Scholar 

Cheslow L, Alvarez JI. Glial-endothelial crosstalk regulates blood-brain barrier function. Curr Opin Pharmacol. 2016;26:39–46.

Article  CAS  PubMed  Google Scholar 

Crockett AM, Ryan SK, Vásquez AH, Canning C, Kanyuch N, Kebir H et al. Disruption of the blood-brain barrier in 22q11.2 deletion syndrome. Brain. 2021.

Guo Y, Singh LN, Zhu Y, Gur RE, Resnick A, Anderson SA et al. Association of a functional Claudin-5 variant with schizophrenia in female patients with the 22q11.2 deletion syndrome. Schizophr Res. 2019.

Li Y, Xia Y, Zhu H, Luu E, Huang G, Sun Y et al. Investigation of neurodevelopmental deficits of 22 q11.2 deletion syndrome with a Patient-iPSC-Derived blood-brain barrier model. Cells. 2021;10(10).

Alvarez JI, Saint-Laurent O, Godschalk A, Terouz S, Briels C, Larouche S, et al. Focal disturbances in the blood-brain barrier are associated with formation of neuroinflammatory lesions. Neurobiol Dis. 2015;74:14–24.

Article  CAS  PubMed  Google Scholar 

Greene C, Kealy J, Humphries MM, Gong Y, Hou J, Hudson N, et al. Dose-dependent expression of claudin-5 is a modifying factor in schizophrenia. Mol Psychiatry. 2018;23(11):2156–66.

Article  CAS  PubMed  Google Scholar 

Druey KM, Parikh SM. Idiopathic systemic capillary leak syndrome (Clarkson disease). J Allergy Clin Immunol. 2017;140(3):663–70.

Article  PubMed  Google Scholar 

Bozzini MA, Milani GP, Bianchetti MG, Fossali EF, Lava SAG. Idiopathic systemic capillary leak syndrome (Clarkson syndrome) in childhood: systematic literature review. Eur J Pediatr. 2018;177(8):1149–54.

Article  PubMed  Google Scholar 

Hsu P, Xie Z, Frith K, Wong M, Kakakios A, Stone KD, et al. Idiopathic systemic capillary leak syndrome in children. Pediatrics. 2015;135(3):e730–5.

Article  PubMed  PubMed Central  Google Scholar 

Günes AR, Berlit P, Weber R. Severe cerebral involvement due to idiopathic systemic capillary leak syndrome. Clin Case Rep. 2016;4(4):429–31.

Article  PubMed  PubMed Central  Google Scholar 

Benallegue N, Kapoor R, Kebir H, Crockett AM, Li C, Cheslow L, et al. The hedgehog pathway suppresses neuropathogenesis in CD4 T cell-driven inflammation. Brain. 2021;144(6):1670–83.

Article  PubMed  PubMed Central  Google Scholar 

Crockett AM, Kebir H, Benallegue N, Adelman P, Gur RE, Sullivan K, et al. Immune status of the murine 22q11.2 deletion syndrome model. Eur J Immunol. 2023;53(1):e2249840.

Article  PubMed  Google Scholar 

Neal EH, Marinelli NA, Shi Y, McClatchey PM, Balotin KM, Gullett DR, et al. A simplified, fully defined differentiation Scheme for producing blood-brain barrier endothelial cells from human iPSCs. Stem Cell Rep. 2019;12(6):1380–8.

Article  CAS  Google Scholar 

Alvarez JI, Dodelet-Devillers A, Kebir H, Ifergan I, Fabre PJ, Terouz S, et al. The hedgehog pathway promotes blood-brain barrier integrity and CNS immune quiescence. Science. 2011;334(6063):1727–31.

Article  CAS  PubMed  Google Scholar 

Percik R, Nethanel A, Liel Y. Capillary-leak syndrome: an unrecognized early immune adverse effect of checkpoint-inhibitors treatment. Immunotherapy. 2021;13(8):653–9.

Article  CAS  PubMed  Google Scholar 

Nielsen MM, Witherden DA, Havran WL. γδ T cells in homeostasis and host defence of epithelial barrier tissues. Nat Rev Immunol. 2017;17(12):733–45.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Severance EG, Gressitt KL, Stallings CR, Origoni AE, Khushalani S, Leweke FM, et al. Discordant patterns of bacterial translocation markers and implications for innate immune imbalances in schizophrenia. Schizophr Res. 2013;148(1–3):130–7.

Article  PubMed  PubMed Central  Google Scholar 

Simonin M, Corbeau P, Durand P, Rosenzwajg M, Filleron A, Tran TA. A possible role for IL-17 in Clarkson’s disease. Eur J Paediatr Neurol. 2016;20(6):953–6.

Article  PubMed  Google Scholar 

Sion-Sarid R, Lerman-Sagie T, Blumkin L, Ben-Ami D, Cohen I, Houri S. Neurologic involvement in a child with systemic capillary leak syndrome. Pediatrics. 2010;125(3):e687–92.

Article  PubMed  Google Scholar 

Profaci CP, Munji RN, Pulido RS, Daneman R. The blood-brain barrier in health and disease: important unanswered questions. J Exp Med. 2020;217(4).

留言 (0)

沒有登入
gif