Overview
Primary pulmonary tuberculosis (TB) is an infectious disease caused by the bacterium Mycobacterium tuberculosis that primarily affects the lungs. It represents the initial infection in individuals who have not previously been exposed to the organism. Upon inhalation of airborne droplets containing the bacteria, the organism establishes a primary focus of infection (Ghon focus) in the lung parenchyma, often accompanied by involvement of the regional hilar or mediastinal lymph nodes, forming what is known as the Ghon complex. In many cases, the immune system contains the infection, and the disease remains latent. However, in some individuals—particularly young children, immunocompromised persons, and those with certain genetic susceptibilities—the infection can progress to active disease. Key symptoms of active primary pulmonary tuberculosis include persistent cough (often lasting more than two weeks), fever, night sweats, weight loss, fatigue, and occasionally hemoptysis (coughing up blood). Chest pain and shortness of breath may also occur. In children, primary TB may present with hilar lymphadenopathy, which can cause airway compression. The disease can spread beyond the lungs to affect other body systems including the lymphatic system, bones, central nervous system, and kidneys (extrapulmonary tuberculosis), particularly in immunocompromised individuals. Susceptibility to tuberculosis has a multifactorial basis, involving both environmental exposure and host genetic factors. Several genetic loci have been implicated in susceptibility to mycobacterial infections, including variants in genes involved in the immune response such as those in the interferon-gamma pathway (e.g., IFNGR1, IFNGR2, IL12B, IL12RB1, STAT1) and other immune-related genes. Mendelian susceptibility to mycobacterial disease (MSMD) represents a group of rare genetic conditions that predispose individuals to severe mycobacterial infections. Treatment of active pulmonary tuberculosis involves a standardized multi-drug regimen typically consisting of isoniazid, rifampicin, pyrazinamide, and ethambutol for an initial intensive phase of two months, followed by a continuation phase of isoniazid and rifampicin for four months. Drug-resistant forms require longer and more complex treatment regimens. BCG vaccination provides partial protection, particularly against severe forms of TB in children.
Also known as:
Multifactorial
Caused by a mix of several genes and environmental factors
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
10 eventsMinistry of Health, Saudi Arabia — PHASE2
Mbarara University of Science and Technology — NA
Bahirdar University — NA
First Affiliated Hospital of Zhejiang University — PHASE4
Research Center Borstel
Hamilton Health Sciences Corporation — PHASE3
Riphah International University — NA
Obafemi Awolowo University Teaching Hospital — PHASE2
Nagasaki University
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableTreatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Financial Resources
3 resourcesRIFAMPIN
SANOFI
Tuberculosis
Pretomanid
Viatris
Travel Grants
No travel grants are currently matched to Primary pulmonary tuberculosis.
Community
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Start the conversation →Latest news about Primary pulmonary tuberculosis
Disease timeline:
New recruiting trial: Risk Factors and Biomarkers for Post-tuberculosis Lung Damage
A new clinical trial is recruiting patients for Primary pulmonary tuberculosis
New recruiting trial: Novel Triple-dose Tuberculosis Retreatment Regimen
A new clinical trial is recruiting patients for Primary pulmonary tuberculosis
New recruiting trial: Safety and Efficacy of Ear Acupuncture for Antituberculosis Drug-Related Nausea and Vomiting
A new clinical trial is recruiting patients for Primary pulmonary tuberculosis
New recruiting trial: Characterization of Tuberculosis Associated Lung Fibrosis and Respiratory Impairment, and Prevention Using Doxycycline
A new clinical trial is recruiting patients for Primary pulmonary tuberculosis
New recruiting trial: ATORvastatin in Pulmonary TUBerculosis
A new clinical trial is recruiting patients for Primary pulmonary tuberculosis
New recruiting trial: Short Course Regimen in Low Risk Active Tuberculosis- a Multicenter, Randomized, Active-controlled, Trial
A new clinical trial is recruiting patients for Primary pulmonary tuberculosis
New recruiting trial: Development of a Canadian Bronchiectasis and NTM Database
A new clinical trial is recruiting patients for Primary pulmonary tuberculosis
New recruiting trial: Prevalence of Latent Tuberculosis Infection in Health-care Workers and Students
A new clinical trial is recruiting patients for Primary pulmonary tuberculosis
New recruiting trial: Atorvastatin to Reduce Inflammation After Tuberculosis Treatment Completion
A new clinical trial is recruiting patients for Primary pulmonary tuberculosis
New recruiting trial: Diagnostic Utility of Mycobacterium Tuberculosis Cell-free DNA
A new clinical trial is recruiting patients for Primary pulmonary tuberculosis
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Common questions about Primary pulmonary tuberculosis
What is Primary pulmonary tuberculosis?
Primary pulmonary tuberculosis (TB) is an infectious disease caused by the bacterium Mycobacterium tuberculosis that primarily affects the lungs. It represents the initial infection in individuals who have not previously been exposed to the organism. Upon inhalation of airborne droplets containing the bacteria, the organism establishes a primary focus of infection (Ghon focus) in the lung parenchyma, often accompanied by involvement of the regional hilar or mediastinal lymph nodes, forming what is known as the Ghon complex. In many cases, the immune system contains the infection, and the disea
How is Primary pulmonary tuberculosis inherited?
Primary pulmonary tuberculosis follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for Primary pulmonary tuberculosis?
Yes — 20 recruiting clinical trials are currently listed for Primary pulmonary tuberculosis on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Primary pulmonary tuberculosis?
25 specialists and care centers treating Primary pulmonary tuberculosis are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Primary pulmonary tuberculosis?
2 patient support programs are currently tracked on UniteRare for Primary pulmonary tuberculosis. See the treatments and support programs sections for copay assistance, eligibility, and contact details.