PMCHS — Références scientifiques

Preprint 1 · 86 références

Syndrome d'Hyperréactivité Mastocytaire Programmée : un cadre trans-diagnostique épigénétiquement programmé

Silva Vieira E. · Zenodo · Avril 2026

📄 DOI: 10.5281/zenodo.19816705

🏛️ Références fondatrices

Afrin LB et al. Diagnosis of mast cell activation syndrome: a global"consensus-2". Diagnosis. 2020;8(2).
DOI: 10.1515/dx-2020-0005

Theoharides TC. Mast cells, stress, and psychiatric disorders: the CRH–substance P axis. J Clin Psychopharmacol. 2020;40(3):259–263.
DOI: 10.1097/JCP.0000000000001216

⚗️ Mécanismes centraux

Theoharides TC, Twahir A, Kempuraj D. Mast cells in the autonomic nervous system and their role in dysautonomia. Ann Allergy Asthma Immunol. 2024;132(4):440–454.
DOI: 10.1016/j.anai.2023.12.010

Skaper SD, Facci L, Giusti P. Mast cells, glia and neuroinflammation: partners in crime? Immunology. 2014;141(3):314–327.
DOI: 10.1111/imm.12170

Weinstock LB et al. Neuropsychiatric manifestations of mast cell activation syndrome and response to mast cell-directed treatment. J Pers Med. 2023;13(11):1562.
DOI: 10.3390/jpm13111562

Kovacheva E et al. Mast cells in autism spectrum disorder — the enigma to be solved? Int J Mol Sci. 2024;25(5):2651.
DOI: 10.3390/ijms25052651

Wang HR et al. Childhood maltreatment and deviations from normative brain structure. Biol Psychiatry. 2026. DOI: 10.1016/j.biopsych.2026.02.016

Agier J et al. Expression of surface and intracellular toll-like receptors by mature mast cells. Cent Eur J Immunol. 2016;41:333–338.
DOI: 10.5114/ceji.2016.65134

Platt MS et al. Involvement of mast cells in sudden infant death syndrome. J Allergy Clin Immunol. 1994;94(2):250–256.
PubMed →

Zaitsu M et al. Estradiol activates mast cells via a non-genomic estrogen receptor-α. Mol Immunol. 2007;44(8):1977.
DOI: 10.1016/j.molimm.2006.09.030

Wang J et al. Mast cells and estrogen-induced pain sensitization in endometriosis. Int J Biol Sci. 2025;21(13):5891.
DOI: 10.7150/ijbs.94653

Agier J et al. HMGB1-dependent signaling in mast cell activity. Front Immunol. 2025;16:1643427.
DOI: 10.3389/fimmu.2025.1643427

Vasiadi M, Kempuraj D, Theoharides TC. Progesterone inhibits mast cell secretion. Int J Immunopathol Pharmacol. 2006;19(4):787.
DOI: 10.1177/039463200601900409

Song N et al. Vasoactive intestinal peptide inhibits mast cell activation. Front Immunol. 2021;12:765432.
DOI: 10.3389/fimmu.2021.765432

Henning RJ et al. Vasoactive intestinal peptide release during nerve stimulation. Am J Physiol Heart Circ Physiol. 2001;280:H260–H268.
DOI: 10.1152/ajpheart.2001.280.1.H260

Qi XR, Zhang L. Gut peptide hormones in autism spectrum disorder. Front Neurosci. 2020;14:612.
DOI: 10.3389/fnins.2020.00612

Masaki T et al. Hypothalamic H1 receptor regulates feeding rhythm and obesity. Diabetes. 2004;53(9):2250–2260.
DOI: 10.2337/diabetes.53.9.2250

Levy D et al. Mast cell degranulation activates trigeminocervical and lumbosacral pain pathways. Brain Behav Immun. 2012;26:311.
DOI: 10.1016/j.bbi.2011.09.014

Scanzano A, Cosentino M. Adrenergic regulation of innate immunity. Front Pharmacol. 2015;6:171. DOI: 10.3389/fphar.2015.00171

Iddamalgoda A et al. Mast cell tryptase contributes to photoaging. Arch Dermatol Res. 2008;300(4):207–215.
DOI: 10.1007/s00403-008-0834-0

Cairns JA, Walls AF. Mast cell tryptase stimulates type I collagen synthesis. J Clin Invest. 1997;99(6):1313.
DOI: 10.1172/JCI119283

Ikeda T et al. Tryptase and anti-type II collagen antibodies in idiopathic epiretinal membranes. Ophthalmol Ther. 2015;4(2):181–190.
DOI: 10.1007/s40123-015-0037-3

Sanna MD, Bhattacharya A. The histaminergic system as a target for metabolic syndrome. Neuropharmacology. 2015;106:13.
DOI: 10.1016/j.neuropharm.2015.04.033

Sahid MNA et al. Three types of mast cell exocytosis. J Immunoassay Immunochem. 2020;41(3):354–371.
DOI: 10.1080/15321819.2020.1728428

Kaliner M. Mast cell mediators and asthma. Chest. 1987;91(6 Suppl):176S–181S.
Chest archive →

Akin C. Open questions in MCAS. J Allergy Clin Immunol. 2017;140(2):349–355.
DOI: 10.1016/j.jaci.2017.06.007

Shabani K et al. APP and neurodevelopment. Sci Adv. 2023.
DOI: 10.1126/sciadv.add5002

Zhang B et al. Stimulated human mast cells secrete mitochondrial components with autocrine and paracrine inflammatory actions. PLoS One. 2012;7(12):e49767.
DOI: 10.1371/journal.pone.0049767

🗺️ Comorbidités documentées

Burke OM et al. Innate immunity and epigenetics in hidradenitis suppurativa. Front Immunol. 2025;16:1593253.
DOI: 10.3389/fimmu.2025.1593253

Takaichi M et al. Mast cells and CRH in hidradenitis suppurativa. J Invest Dermatol. 2023;143(5 Suppl):S29. Abstract 173.
Abstract

Chu X et al. IL17A-expressing mast cells in hidradenitis suppurativa. Br J Dermatol. 2023;189:e110.
DOI: 10.1093/bjd/ljad209

Sabat R et al. Hidradenitis suppurativa. Nat Rev Dis Primers. 2020;6:18.
DOI: 10.1038/s41572-020-0149-1

Strenzke N et al. Auditory neuropathy in systemic mast cell activation disease. Otolaryngol Case Rep. 2024;31:100606.
DOI: 10.1016/j.xocr.2024.100606

Zeng B et al. Mast cell mediators from cochlear tissue. Cells. 2025;14(20):1615.
DOI: 10.3390/cells14201615

Augustin M et al. Gut-immune axis dysregulation in post-COVID. Mucosal Immunol. 2026.
DOI: 10.1038/s41385-025-00841-4

Allen M et al. Interstitial fluid in lipedema. Womens Health Rep. 2020;1(1):480.
DOI: 10.1089/whr.2020.0094

Rasmussen JC et al. Lymphatic function in early lipedema. Obesity. 2022;30(7):1391.
DOI: 10.1002/oby.23474

Bonetti G et al. Sodium cromoglycate for lipedema. Clin Ter. 2023;174 Suppl 2(6):256.
clinicaterapeutica.it →

Buttgereit T et al. Idiopathic MCAS is more often suspected than diagnosed. Allergy. 2022;77:2794.
DOI: 10.1111/all.15345

Weinstock LB et al. Neuropsychiatric manifestations of MCAS. J Pers Med. 2023;13(11):1562.
DOI: 10.3390/jpm13111562

Mahra K et al. RNA-seq of granulosa cells in PCOS. Genomics Inform. 2025;23(2):e15.
DOI: 10.5808/gi.24061

Singh V et al. Gut microbes in PCOS. Probiotics Antimicrob Proteins. 2024;16(5):1744–1761.
DOI: 10.1007/s12602-023-10272-4

Gold M et al. Mast cell activation in SIDS/ALTE families. J Pediatr. 2000;136(3):351–356.
DOI: 10.1016/S0022-3476(00)90082-3

Holgate ST et al. Tryptase and PGD2 in SIDS. Clin Exp Allergy. 1994.
PubMed →

Bollinger ME, Wood RA. The anaphylaxis hypothesis of SIDS. Pediatrics. 1996;98(2):320.
PubMed →

Ricigliano VAG et al. Choroid plexus imaging in presymptomatic MS. Neurol Neuroimmunol Neuroinflamm. 2022;9(3):e1150.
DOI: 10.1212/NXI.0000000000001150

Ruhoy IL. MCAS, post-viral concerns, hEDS, POTS, and CSF leak. Conference presentation; Jan 28, 2025.
YouTube

🧬 Épigénétique & transmission

Mangum KD, Gallagher KA. Obesity confers macrophage memory. Science. 2023;379:28.
DOI: 10.1126/science.ade1158

Tysoe O. Obesity induces epigenetic memory. Nat Rev Endocrinol. 2023;19:128.
DOI: 10.1038/s41574-022-00780-4

Houtepen LC et al. DNA methylation and cortisol reactivity after childhood trauma. Nat Commun. 2016.
DOI: 10.1038/ncomms10967

Bhatt DL et al. VNS alters the epigenetic landscape. J Neurosci. 2019.
DOI: 10.1523/JNEUROSCI.0705-19.2019

The epigenetic role of the vagal complex. Front Physiol. 2023;1279258.
DOI: 10.3389/fphys.2023.1279258

Yehuda R, Lehrner A. Intergenerational transmission of trauma effects: putative role of epigenetic mechanisms. World Psychiatry. 2018;17(3):243–257.
DOI: 10.1002/wps.20568

💊 Approches thérapeutiques

Weng Z et al. Quercetin blocks mast cell cytokine release. PLoS One. 2012.
DOI: 10.1371/journal.pone.0044786

Mothé-Satney I et al. Adipocytes secrete leukotrienes. Diabetes. 2012;61(9):2311–2319.
DOI: 10.2337/db11-1529

🔬 Critères diagnostiques & génétique

Timmermans S et al. Complex genetics of hEDS. medRxiv. 2025.
DOI: 10.1101/2025.02.12.243027

Shirvani A et al. Genetic architecture of hEDS. Genes. 2026;17(2):211.
DOI: 10.3390/genes17020211

Si H et al. CRAC channels mediate histamine-induced Ca²⁺ entry. Am J Physiol Heart Circ Physiol. 2020;318:H1230–H1240.
DOI: 10.1152/ajpheart.00648.2019

Regitz-Zagrosek V et al. Progesterone and immune modulation. Semin Immunol. 2023.
DOI: 10.1016/j.smim.2023.101041

Fiengo E, Sbarbati A. Lipedema and HSD. J Clin Med. 2025;14(20):7195.
DOI: 10.3390/jcm14207195

Monaco A et al. Mast cell-related conditions and hypermobile syndromes. Immunol Res. 2022;70:419–430.
DOI: 10.1007/s12026-022-09310-4

Deng C et al. H1 receptor antagonism and antipsychotic-induced weight gain. CNS Drugs. 2013;27:421–432.
DOI: 10.1007/s40263-013-0063-3

Khouma A, Moeini MM, Plamondon J, Richard D, Caron A, Michael NJ. Histaminergic regulation of food intake. Front Endocrinol. 2023;14:1202089.
DOI: 10.3389/fendo.2023.1202089

Le Guern V. Sexual hormones and autoimmunity. Presse Med Form. 2020;1(1):36–45.
DOI: 10.1016/j.lpmfor.2020.05.002

Voelker D et al. Validated urinary biomarkers for MCAS. Curr Opin Allergy Clin Immunol. 2025;25(3):145–152.
DOI: 10.1097/ACI.0000000000001014

📚 Références additionnelles

Quadt L et al. Neurodivergence and connective tissue in chronic pain/fatigue. J Psychiatr Res. 2026.
DOI: 10.1016/j.jpsychires.2025.12.014

Wang X et al. Early adversity and amygdala alterations. Biol Psychiatry. 2026.
DOI: 10.1016/j.biopsych.2025.12.009

Gensemer C et al. KLK15 alters connective tissues in hEDS. iScience. 2025;28(9):113343.
DOI: 10.1016/j.isci.2025.113343

Griggs M et al. Proteomic discoveries in hEDS. ImmunoHorizons. 2025;9(10):vlaf044.
DOI: 10.4049/immunohorizons.240044

Daylor V et al. Global survey of hEDS/HSD. J Clin Med. 2025;14(16):5636.
DOI: 10.3390/jcm14165636

Afrin LB et al. GLP-1 receptor agonists in MCAS. Am J Med Sci. 2025;360(1):12–20.
DOI: 10.1016/j.amjms.2024.10.003

Jang SS, Takahashi F, Huguenard JR. Reticular thalamic hyperexcitability drives autism spectrum disorder behaviors in the Cntnap2 model of autism. Sci Adv. 2025;11(34):eadw4682.
DOI: 10.1126/sciadv.adw4682

Song H et al. Stress-related disorders and autoimmune disease. JAMA. 2018;319(23):2388–2400.
DOI: 10.1001/jama.2018.7028

Aitella E et al. Mast cells and neuroinflammation in developmental neuropsychiatric disorders. Biomolecules. 2026;16(4):530.
DOI: 10.3390/biom16040530

Li D et al. Mast cell–neuron axis in chronic pruritus. Front Immunol. 2025;16:1645095.
DOI: 10.3389/fimmu.2025.1645095

Kounis NG. Kounis syndrome: an update on epidemiology, pathogenesis, diagnosis and therapeutic management. Clin Chem Lab Med. 2016;54(10):1545–1559.
DOI: 10.1515/cclm-2016-0010

Linnhoff S et al. EEG-based frontal excitation/inhibition balance as an objective biomarker for cognitive fatigue across multiple sclerosis and Long COVID. NeuroImage Clin. 2026.
DOI: 10.1016/j.nicl.2025.103720

Pinggal E et al. Sleep-like slow waves during wakefulness mediate attention and vigilance difficulties in adult ADHD. J Neurosci. 2026. DOI: 10.1523/JNEUROSCI.1694-25.2025

Sirés A et al. Blood transcriptomic analysis reveals a distinct molecular subtype of treatment resistant depression. Brain Behav Immun. 2025;130:106103.
DOI: 10.1016/j.bbi.2025.106103

Riley EG. Vagus nerve stimulation and the locus coeruleus: implications for Alzheimer's disease and cognitive aging. The Conversation. March 26, 2026.
theconversation.com →

Chapman KE et al. Mast cells express 11β-hydroxysteroid dehydrogenase type 1. PLoS One. 2013;8(1):e54640.
DOI: 10.1371/journal.pone.0054640

Reber LL et al. Molecular mechanisms of glucocorticoid action in mast cells. Mol Cell Endocrinol. 2013;381(1-2):90-101.
DOI: 10.1016/j.mce.2013.07.016

Tschopp J, Schroder K. Loop between NLRP3 inflammasome and reactive oxygen species. Antioxid Redox Signal. 2022;36(10):784-796.
DOI: 10.1089/ars.2021.0203

Naegeli C et al. Locus coeruleus activity mediates hyperresponsiveness in posttraumatic stress disorder. Biol Psychiatry. 2018;83(3):254-262.
DOI: 10.1016/j.biopsych.2017.08.021

Leon A et al. Mast cells synthesize, store, and release nerve growth factor. Proc Natl Acad Sci USA. 1994;91(9):3739-3743.
DOI: 10.1073/pnas.91.9.3739

Skaper SD. Nerve growth factor: a neuroimmune crosstalk mediator for all seasons. Immunology. 2017;151(1):1-15.
DOI: 10.1111/imm.12720

Preprint 2 · 45 références

PMCHS et réflexes archaïques : locus coeruleus, pruning synaptique et développement neuromoteur néonatal

Silva Vieira E. · Zenodo · 2026

📄 DOI: 10.5281/zenodo.20480196

📚 Références complètes

Silva Vieira E. Programmed Mast Cell Hyperreactivity Syndrome: a multigenerational spectrum framework. Zenodo. 2026.
DOI: 10.5281/zenodo.19816705

Valent P et al. Definitions, criteria and global classification of mast cell disorders. Int Arch Allergy Immunol. 2012;157:215-225.
DOI: 10.1159/000328760

Afrin LB et al. Diagnosis of mast cell activation syndrome: a global"consensus-2". Diagnosis. 2021;8(2):137-152.
DOI: 10.1515/dx-2020-0005

Tuulari JJ et al. Exposure to childhood maltreatment is associated with specific epigenetic patterns in sperm. Molecular Psychiatry. 2025;30:2635-2644.
DOI: 10.1038/s41380-024-02456-x

Naviaux RK. Metabolic features of the cell danger response. Mitochondrion. 2014;16:7-17.
DOI: 10.1016/j.mito.2013.08.006

Theoharides TC et al. The role of mast cells in migraine pathophysiology. Brain Res Rev. 2005;49:65-76.
DOI: 10.1016/j.brainresrev.2004.12.026

Theoharides TC et al. Mast cell activation and autism. Biochim Biophys Acta. 2012;1822(1):34-41.
DOI: 10.1016/j.bbadis.2010.12.017

Petra AI et al. Gut-microbiota-brain axis and its effect on neuropsychiatric disorders. Clin Ther. 2015;37(5):984-995.
DOI: 10.1016/j.clinthera.2015.04.002

McGowan PO et al. Epigenetic regulation of the glucocorticoid receptor in human brain associates with childhood abuse. Nat Neurosci. 2009;12(3):342-348.
DOI: 10.1038/nn.2270

Meaney MJ. Epigenetics and the biological definition of gene × environment interactions. Child Development. 2010;81(1):41-79.
DOI: 10.1111/j.1467-8624.2009.01381.x

Bohacek J, Mansuy IM. Molecular insights into transgenerational non-genetic inheritance of acquired behaviours. Nat Rev Genet. 2015;16(11):641-652.
DOI: 10.1038/nrg3964

Heard E, Martienssen RA. Transgenerational epigenetic inheritance: myths and mechanisms. Cell. 2014;157(1):95-109.
DOI: 10.1016/j.cell.2014.02.045

Benediktsson R et al. Glucocorticoid exposure in utero: new model for adult hypertension. Lancet. 1993;341(8841):339-341.
DOI: 10.1016/0140-6736(93)90138-7

Seckl JR. Prenatal glucocorticoids and long-term programming. Eur J Endocrinol. 2004;151(Suppl 3):U49-U62.
DOI: 10.1530/eje.0.151u049

Hadders-Algra M. Putative neural substrate of normal and abnormal general movements. Neurosci Biobehav Rev. 2007;31(8):1181-1190.
DOI: 10.1016/j.neubiorev.2007.04.009

Lagercrantz H, Changeux JP. The emergence of human consciousness: from fetal to neonatal life. Pediatr Res. 2009;65(3):255-260.
DOI: 10.1203/PDR.0b013e3181973b0d

Foote SL, Bloom FE, Aston-Jones G. Nucleus locus ceruleus: new evidence of anatomical and physiological specificity. Physiol Rev. 1983;63(3):844-914.
DOI: 10.1152/physrev.1983.63.3.844

Berridge CW, Waterhouse BD. The locus coeruleus–noradrenergic system. Brain Res Rev. 2003;42(1):33-84.
DOI: 10.1016/S0165-0173(03)00143-7

Buffalari DM, Grace AA. Noradrenergic modulation of basolateral amygdala neuronal activity. J Neurosci. 2007;27(45):12358-12366.
DOI: 10.1523/JNEUROSCI.2007-07.2007

Scanzano A, Cosentino M. Adrenergic regulation of innate immunity. Front Pharmacol. 2015;6:171.
DOI: 10.3389/fphar.2015.00171

Goddard Blythe SA. Assessing Neuromotor Readiness for Learning. Wiley-Blackwell; 2012.
Wiley →

Slotkin TA et al. Glucocorticoids and the development of neuronal function: effects of prenatal dexamethasone exposure on central noradrenergic activity. Biol Neonate. 1992;61(5):326-336.
PMID: 1591065 →

Trigg NA, Conine CC. Epididymal acquired sperm microRNAs modify post-fertilization embryonic gene expression. Cell Rep. 2024;43(9):114698.
DOI: 10.1016/j.celrep.2024.114698

Meaney MJ. Epigenetic mechanisms of perinatal programming of hypothalamic-pituitary-adrenal function. Trends Mol Med. 2007;13(7):269-277.
DOI: 10.1016/j.molmed.2007.05.003

Kilinc E et al. Mast cell activation and pentylenetetrazole-induced seizures. Eur J Neurosci. 2022;55(4).
DOI: 10.1111/ejn.15145

Ramos AJ et al. Modulation of neuroinflammation as a therapeutic strategy for the control of epilepsy. Seizure. 2025;131:458-470.
DOI: 10.1016/j.seizure.2025.08.023

Aitella E et al. Role of mast cells and neuroinflammation in neuropsychiatric disorders of the developmental period. Biomolecules. 2026;16(4):530.
DOI: 10.3390/biom16040530

Melillo R et al. Cognitive effects of retained primitive reflexes in autistic spectrum disorder. Front Neurol. 2022;13:922322.
DOI: 10.3389/fneur.2022.922322

Sigafoos J et al. Persistence of primitive reflexes in developmental disorders. Curr Dev Disord Rep. 2021;8:98-105.
DOI: 10.1007/s40474-021-00232-2

Wang M et al. ADHD is associated with (a)symmetric tonic neck primitive reflexes: a systematic review and meta-analysis. Front Psychiatry. 2023;14:1175974.
DOI: 10.3389/fpsyt.2023.1175974

Elenkov IJ, Chrousos GP. Stress hormones, proinflammatory and antiinflammatory cytokines, and autoimmunity. Ann N Y Acad Sci. 2002;966:290-303.
DOI: 10.1111/j.1749-6632.2002.tb04229.x

Kempuraj D et al. Mast cells in neuroinflammation and neurodegeneration. Front Cell Neurosci. 2019;13:54.
DOI: 10.3389/fncel.2019.00054

Nolvi S et al. Prenatal stress and the developing brain: postnatal environments promoting resilience. Biol Psychiatry. 2023;93(10):942-952.
DOI: 10.1016/j.biopsych.2022.11.023

Yehuda R, Lehrner A. Intergenerational transmission of trauma effects. World Psychiatry. 2018;17(3):243-257.
DOI: 10.1002/wps.20568

Konicarova J, Bob P. Retained primitive reflexes and ADHD symptoms in children. Neuropsychiatr Dis Treat. 2013;9:1451-1456.
DOI: 10.2147/NDT.S49056

Theoharides TC, Kavalioti M, Tsilioni I. Mast cells, stress, fear and autism spectrum disorder. Int J Mol Sci. 2019;20(15):3611.
DOI: 10.3390/ijms20153611

Gill T, Choate P, Orton SM. Understanding epigenetics and its role in trauma transmission. Soc Sci. 2026;15(2):59.
DOI: 10.3390/socsci15020059

Kac E, Qi Q, Ryznar R. Epigenetic changes associated with multi-generational trauma. Front Psychiatry. 2026;17.
DOI: 10.3389/fpsyt.2026.1769422

Provazník A et al. Persisting primitive reflexes and motor and cognitive development in children: a systematic review. Acta Psychol. 2026;266:106915.
DOI: 10.1016/j.actpsy.2026.106915

Witts EC, Mathews MA, Murray AJ. The locus coeruleus directs sensory-motor reflex amplitude across environmental contexts. Curr Biol. 2023;33(21):4679-4688.e3.
DOI: 10.1016/j.cub.2023.08.085

Leisman G, Melillo R. Evaluating primitive reflexes in early childhood as a potential biomarker for developmental disabilities. J Paediatr Child Health. 2025.
DOI: 10.1111/jpc.70053

Martello JM. Persistent primitive reflex and developmental delay in the school-aged child. J Nurse Pract. 2023;19(10):104767.
DOI: 10.1016/j.nurpra.2023.104767

Su CW et al. Unraveling the functional complexity of the locus coeruleus-norepinephrine system. Cogn Neurodyn. 2025;19:29.
DOI: 10.1007/s11571-024-10208-8

Duan H et al. The locus coeruleus influences behavior by coordinating effective integration of fear memories and sensory input. PLoS Biol. 2025;23(7):e3003272.
DOI: 10.1371/journal.pbio.3003272

Hrdy SB. Mothers and Others: The Evolutionary Origins of Mutual Understanding. Harvard University Press; 2009.
HUP →