Autoinflammatory gene mutations associated with eosinophilia and asthma.
Asthma
Autoinflammatory syndrome
Blau syndrome
Cryopyrin-associated
Familial Mediterranean fever
Genetic testing
Majeed syndrome
Respiratory diseases
Journal
Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology
ISSN: 1710-1484
Titre abrégé: Allergy Asthma Clin Immunol
Pays: England
ID NLM: 101244313
Informations de publication
Date de publication:
29 Aug 2023
29 Aug 2023
Historique:
received:
31
05
2023
accepted:
15
08
2023
medline:
30
8
2023
pubmed:
30
8
2023
entrez:
29
8
2023
Statut:
epublish
Résumé
Respiratory conditions, such as asthma, are infrequently associated with auto-inflammatory diseases. We describe five patients with uncontrolled respiratory symptoms that were seen at St. Joesph's Healthcare in Hamilton for severe asthma management diagnosed with rare autoinflammatory conditions using genetic molecular analysis. Five patients are included in this case series. Gene mutations associated with familial Mediterranean fever, Yao syndrome, Cryopyrin-associated periodic syndrome, and Majeed syndrome were considered to explain partly the patient's clinical manifestation after comprehensive clinical, biochemical, hematological investigations ruled out other disorders such as parasitosis, Allergic Bronchopulmonary Fungosis, Eosinophilic Granulomatosis with Poly Angitis, IgG4 disease, and Hypereosinophilia syndrome. Complex patients initially presenting with respiratory conditions in addition to unexplained autoinflammatory conditions are a diagnostic challenge. Genetic molecular testing provides healthcare practitioners with useful information that may diagnose underlying auto-inflammatory diseases in undifferentiated patients. Role of inflammasome-activation in asthma and eosinophilia needs further investigation.
Sections du résumé
BACKGROUND
BACKGROUND
Respiratory conditions, such as asthma, are infrequently associated with auto-inflammatory diseases. We describe five patients with uncontrolled respiratory symptoms that were seen at St. Joesph's Healthcare in Hamilton for severe asthma management diagnosed with rare autoinflammatory conditions using genetic molecular analysis.
CASE PRESENTATION
METHODS
Five patients are included in this case series. Gene mutations associated with familial Mediterranean fever, Yao syndrome, Cryopyrin-associated periodic syndrome, and Majeed syndrome were considered to explain partly the patient's clinical manifestation after comprehensive clinical, biochemical, hematological investigations ruled out other disorders such as parasitosis, Allergic Bronchopulmonary Fungosis, Eosinophilic Granulomatosis with Poly Angitis, IgG4 disease, and Hypereosinophilia syndrome.
CONCLUSIONS
CONCLUSIONS
Complex patients initially presenting with respiratory conditions in addition to unexplained autoinflammatory conditions are a diagnostic challenge. Genetic molecular testing provides healthcare practitioners with useful information that may diagnose underlying auto-inflammatory diseases in undifferentiated patients. Role of inflammasome-activation in asthma and eosinophilia needs further investigation.
Identifiants
pubmed: 37644591
doi: 10.1186/s13223-023-00837-9
pii: 10.1186/s13223-023-00837-9
pmc: PMC10463689
doi:
Types de publication
Journal Article
Langues
eng
Pagination
76Informations de copyright
© 2023. Canadian Society of Allergy & Clinical Immunology.
Références
Israel E, Reddel HK. Severe and difficult-to-treat asthma in adults. N Engl J Med. 2017;377:965–76.
doi: 10.1056/NEJMra1608969
pubmed: 28877019
Jackson DJ, Busby J, Pfeffer PE, et al. Characterisation of patients with severe asthma in the UK severe Asthma Registry in the biologic era. Thorax. 2021;76:220–7.
doi: 10.1136/thoraxjnl-2020-215168
pubmed: 33298582
Cockcroft DW, Killian DN, Mellon JJ, Hargreave FE. Bronchial reactivity to inhaled histamine: a method and clinical survey. Clin Allergy. 1977;7:235–43.
doi: 10.1111/j.1365-2222.1977.tb01448.x
pubmed: 908121
Nigrovic PA, Lee PY, Hoffman HM. Monogenic autoinflammatory disorders: conceptual overview, phenotype, and clinical approach. J Allergy Clin Immunol. 2020;146:925–37.
doi: 10.1016/j.jaci.2020.08.017
pubmed: 33160483
pmcid: 7727443
Manthiram K, Zhou Q, Aksentijevich I, Kastner DL. The monogenic autoinflammatory Diseases define New Pathways in Human Innate immunity and inflammation. Nat Immunol. 2017;18:832–42.
doi: 10.1038/ni.3777
pubmed: 28722725
Rabinovitch E, Harats D, Yaron P, et al. Familial Mediterranean fever gene and protection against asthma. Ann Allergy Asthma Immunol. 2007;99:517–21.
doi: 10.1016/S1081-1206(10)60380-8
pubmed: 18219832
Yao Q, Shen B. A systematic analysis of treatment and outcomes of NOD2-associated autoinflammatory disease. Am J Med. 2017;130:365–e13.
doi: 10.1016/j.amjmed.2016.09.028
Alehashemi S, Goldbach-Mansky R. Human autoinflammatory Diseases mediated by NLRP3-, Pyrin-, NLRP1-, and NLRC4-Inflammasome dysregulation updates on diagnosis, treatment, and the respective roles of IL-1 and IL-18. Front Immunol. 2020;11. https://doi.org/10.3389/fimmu.2020.01840 .
Ferguson PJ, Chen S, Tayeh MK, et al. Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J Med Genet. 2005;42:551–7.
doi: 10.1136/jmg.2005.030759
pubmed: 15994876
pmcid: 1736104
Faghfoury H, Guerin A. Ensuring timely genetic diagnosis in adults. CMAJ. 2023;195:E413–4.
doi: 10.1503/cmaj.221652
pubmed: 37072235
pmcid: 10120577
Betancor D, Plaza KL, Eguez JC, Nair P, Trus M. Exon 8 KIT mutation and pulmonary eosinophilia. Allergy. 2020;75:2094–6.
doi: 10.1111/all.14272
pubmed: 32168380
Rossios C, Pavlidis S, Hoda U, et al. Unbiased biomarkers for the prediction of respiratory Diseases Outcomes (U-BIOPRED) Consortia Project Team. Sputum transcriptomics reveal upregulation of IL-1 receptor family members in patients with severe asthma. J Allergy Clin Immunol. 2018;141:560–70.
doi: 10.1016/j.jaci.2017.02.045
pubmed: 28528200