Life-threatening Infection in Humans: from Epidemiological Analysis to Molecular Genetics

Recruiting now

Conditions studied: Life-threatening Infection

In brief

This study, aims to identify and calculate the prevalence of cases potentially associated with congenital errors of immunity (ECI) among patients, hospitalized with infectious disease and carry out their clinical-laboratory characterization. Diagnoses of ECI are becoming increasingly common, by virtue of the continuing discoveries of new disease-causing genes and an increasing understanding of the clinical signs and symptoms of these entities. The most important challenge still remains to achieve early diagnosis, which is essential for appropriate and individualized treatment that also takes into account the prognostic and genetic counseling aspect related to these disorders, which are associated with high rates of morbidity and mortality. Patients with nonimmunological diseases, secondary immunodeficiencies, nonpharmacological iatrogenic factors, and immunosuppressive drug therapies will be involved in the study.

Key facts

Study ID

NCT06775496

Run by

IRCCS Azienda Ospedaliero-Universitaria di Bologna

People needed

360

Starts

2024-10-01

Expected to finish

2031-05-31

Last updated by the study team

2025-01-15

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Obtained informed consent;
• Otherwise healthy patient on admission
• Infectious episode:
• life-threatening caused by known or unknown etiologic agent including viruses, bacteria, mycobacteria or mycetes (in case of lack of microbiologic isolate if clinical, laboratory, histopathologic and radiologic data, justify an infectious origin)
• or caused by vaccine strains of attenuated vaccines such as Measles, Mumps, Rubella, Yellow Fever.
• or caused by viruses, bacteria, mycobacteria or mycetes with features suggestive of congenital deficiency of immunity, the clinical pictures below refer to known conditions potentially associated with congenital errors of innate immunity
• Viral susceptibility:
• ARDS caused by influenza virus type A, Sars-Cov2
• Life-threatening enterovirus rhomboencephalitis
• Life-threatening infection by VZV, CMV, EBV, Rhinovirus, Respiratory Syncytial Virus
• HSV encephalitis
• Fulminant hepatitis from HAV
• Kaposi\'s sarcoma from HHV8
• Beta-HPV infections such as: epidermodysplasia verruciformis, mucocutaneous carcinoma,recurrent/diffuse skin warts,, papillomatosis.
• Susceptibility to pyogenic bacteria:
• At least one life-threatening infection or two episodes of invasive infectionsin otherwise healthy patients, either systemic (bacteremia) or focal (pneumonia, meningitis, arthritis, osteomyelitis, deep brain/peritoneal/hepatosplenic/muscle abscesses)
• At least two episodes of disseminated or severe staphylococcal muco-cutaneous infections in otherwise healthy patients: decalvant folliculitis, pustules, furunculosis, blepharitis, lymphadenitis, abscesses
• Susceptibility to Tropherymawhipplei:
• Whipple\'s disease
• Susceptibility to Mycobacteria:
• Life-threatening , recurrent, or persistent infections with tuberculous or nontuberculous mycobacteria in otherwise healthy patients
• Post-vaccinal BCG-osis from attenuated M. Bovis strain
• Susceptibility to mycetes:
• Chronic muco-cutaneous candidiasis Invasive fungal infections of sinuses, lungs, CNS, bones, joints, liver, spleen, and mucocutaneous membranes by Coccidioides, Paracoccidiodes, Cryptococcus, Histoplasma, Pneumocystis, Aspergillus, Talaromyces, Mucormycetes, or Blastomyces
• Invasive candidiasis of brain, eyes, heart, bone, and blood in the absence of central catheters

You may not qualify if…

• Patients with nonimmunological diseases, secondary immunodeficiencies, nonpharmacological iatrogenic factors, immunosuppressive drug therapies

Where it is running

• IRCCS Istituto delle Scienze Neurologiche — Bologna, Bologna, Italy (enrolling)
• IRCCS Azienda Ospedaliero Universitaria di Bologna UO Pediatria — Bologna, Bologna, Italy (enrolling)
• IRCCS Azienda-Ospedaliero Universitaria di Bologna UO Anestesiologia e Rianimazione generale e pediatrica — Bologna, Bologna, Italy (enrolling)
• IRCCS Azienda-Ospedaliero Universitaria di Bologna UO Malattie Infettive — Bologna, Bologna, Italy (enrolling)
• IRCCS Azienda-Ospedaliero Universitaria di Bologna UO Neonatologia e terapia intensiva neonatale — Bologna, Bologna, Italy (enrolling)
• IRCCS Azienda-Ospedaliero Universitaria di Bologna UO Pediatria d'Urgenza, Pronto Soccorso e Osservazione Breve e Intensiva — Bologna, Bologna, Italy (enrolling)

Full record on ClinicalTrials.gov

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