Primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) is a rare genetic condition associated with abnormalities in the functioning of cilia, which are the hair-like structures that line the respiratory tract and other tissues in the body. These cilia play a crucial role in the coordinated movement of mucus and other substances, helping to clear the airways and prevent infections.

PCD is also known as Kartagener syndrome, after the trilogy of symptoms described by Kartagener in 1933—(1) bronchiectasis; (2) situs inversus; and (3) chronic sinusitis and otitis media. The condition is rare, with a frequency estimated to be around 1 in 15,000 to 30,000 individuals. However, more recent studies suggest that PCD may be more common than previously thought, with some populations showing a higher prevalence.

The main clinical symptoms of PCD are chronic respiratory infections, usually starting in early childhood. These infections may lead to bronchiectasis, a condition characterized by the widening and scarring of the airways, and can result in additional problems such as recurrent ear infections, sinusitis, and respiratory difficulties. Patients with PCD also frequently experience fertility problems, due to abnormal movement of sperm or eggs.

PCD is caused by mutations in multiple genes, and more than 40 genes associated with the condition have been identified to date. Genetic testing is necessary to confirm a diagnosis of PCD, and there are a number of resources available to support patients and healthcare providers in this process. The OMIM and PubMed databases provide more information about the genes associated with PCD, and additional support can be found through advocacy groups and research centers focused on the condition.

ClinicalTrials.gov is a valuable resource for patients and healthcare providers looking for information about ongoing clinical trials and scientific research related to PCD. These studies aim to learn more about the causes and mechanisms of PCD, as well as potential treatments for the condition. By participating in clinical trials, patients and their families can contribute to the advancement of knowledge and the development of new therapies for PCD.

In conclusion, Primary ciliary dyskinesia (PCD) is a rare genetic condition associated with abnormalities in the functioning of cilia. It is characterized by chronic respiratory infections, fertility problems, and other clinical symptoms. Genetic testing is necessary for a definitive diagnosis, and there are numerous resources available to support patients and healthcare providers in understanding and managing the condition. Ongoing research and clinical trials are helping to advance our knowledge and treatment options for PCD.

Frequency

Primary ciliary dyskinesia (PCD) is a rare genetic condition associated with abnormalities in the movement of cilia, which are tiny hair-like structures found on the surface of cells in various tissues of the body. It is estimated that PCD occurs in approximately 1 in 10,000 to 1 in 20,000 individuals worldwide.

PCD can result from mutations in different genes, with more than 40 genes identified so far that are associated with this condition. The most common gene mutations identified in PCD are in the DNAI1 gene, followed by mutations in the DNAH5 and CCDC39 genes. However, there are still many cases where the underlying genetic cause is unknown.

PCD is often diagnosed within the first few years of life, but the age of diagnosis can vary depending on the severity of symptoms and the availability of diagnostic testing. Some patients with PCD may have Kartagener syndrome, which is a clinical triad of PCD, situs inversus (where internal organs are in mirror image reversal) and chronic sinusitis. In addition to respiratory problems, individuals with PCD may also experience other health issues, such as ear infections (otitis media), hearing loss, and infertility.

Research studies and clinical trials are ongoing to learn more about the causes, inheritance patterns, and treatment options for PCD. Resources such as the OMIM catalog, PubMed (scientific articles), and ClinicalTrials.gov are valuable sources of information for patients, healthcare professionals, and researchers alike. Patient advocacy groups and support organizations also provide valuable resources and support for individuals and families affected by this rare condition.

It is important for individuals with PCD to work closely with their healthcare team and genetic counselors to understand the specific genetic cause of their condition, as well as to access appropriate diagnostic testing and treatment options. Given the rare nature of PCD, collaboration and sharing of resources among healthcare professionals, researchers, and patients are necessary to further advance the understanding and management of this condition.

Causes

Primary ciliary dyskinesia (PCD) is a rare genetic disorder that affects the function of cilia, the tiny hair-like structures found on the surface of cells in various tissues of the body. PCD is often associated with abnormalities in the structure and functioning of cilia.

PCD is caused by mutations in several different genes. These genes are involved in the development and proper functioning of cilia. Mutations in these genes can result in cilia that are unable to move properly, leading to the symptoms and health problems associated with PCD.

There are multiple ways to learn about the genetic causes of PCD. One resource is the Online Mendelian Inheritance in Man (OMIM) database, which provides information about the genes associated with PCD and how they contribute to the condition. Scientific articles and research studies can also provide additional information about the genetic causes of PCD.

Genetic testing can be done to identify specific gene mutations associated with PCD. This testing can help confirm a diagnosis of PCD and provide information about the inheritance pattern of the condition.

In addition to genetic causes, other factors can contribute to the development of PCD. Some cases of PCD are associated with certain inherited conditions, such as Kartagener syndrome. Kartagener syndrome is characterized by the triad of PCD, situs inversus (in which internal organs are reversed or mirrored from their normal positions), and chronic sinusitis.

Patient advocacy groups and support organizations can provide resources and support for individuals and families affected by PCD. These organizations can provide information about the disease, research studies, clinical trials, and other available resources.

ClinicalTrials.gov is a valuable resource that lists ongoing clinical trials studying PCD. These trials can provide important information about potential treatments and interventions for PCD.

It is important for individuals with PCD to receive regular medical care and monitoring to manage their condition and to address any associated health problems. This may include treatments to prevent or manage respiratory infections, hearing loss, heart problems, infertility, and other complications associated with PCD.

Learn more about the genes associated with Primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) is a rare genetic disorder that affects the proper functioning of cilia, which are tiny hair-like structures found on the surface of cells throughout the body. These cilia play a crucial role in the movement of mucus, particles, and fluids in various organs, including the respiratory tract, reproductive system, and the lining of the brain ventricles.

PCD is associated with mutations in several genes that are involved in the structure and function of cilia. These genetic mutations can cause the cilia to be immotile or have abnormal movement, leading to the accumulation of mucus and an increased risk of infections in the affected organs.

Research has identified over 40 genes that are associated with PCD, with each gene being responsible for a specific aspect of ciliary functioning. Some of these genes include DNAH5, DNAI1, DNAI2, CCDC39, CCDC40, CCDC103, and CCDC114.

Genetic testing is typically used to identify the specific gene mutations responsible for PCD in an individual patient. This can help with the diagnosis of the condition, as well as provide information about the inheritance pattern and the risk of PCD in other family members.

Learning more about the genes associated with PCD can provide valuable insights into the causes of the condition and potential treatment strategies. Scientific research studies, clinical trials, and other scientific resources are available to further understand the genetic basis of PCD.

Patient advocacy groups, such as the Primary Ciliary Dyskinesia Foundation, also provide information and support for individuals and families affected by PCD. These organizations can help connect patients with resources, genetic testing centers, and additional research studies.

References and Resources:

• Primary Ciliary Dyskinesia. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1122/
• Primary Ciliary Dyskinesia. OMIM (Online Mendelian Inheritance in Man) database. Available from: https://www.omim.org/entry/244400
• McKusick VA. OMIM Entry – #244400 – Ciliary Dyskinesia, Primary, 1; PCD1. Available from: https://pubmed.ncbi.nlm.nih.gov/2030141/
• Jain K. Primary Ciliary Dyskinesia. Treasure Island (FL): StatPearls Publishing; 2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK537243/

Inheritance

Primary ciliary dyskinesia (PCD) is a genetic condition that is inherited in an autosomal recessive manner. This means that both parents must carry a mutated copy of the gene for their child to be affected. PCD can be caused by mutations in various genes that are involved in the structure and function of cilia, which are tiny hair-like structures that line the respiratory tract and other tissues in the body.

The frequency of PCD is rare, with estimates ranging from 1 in 10,000 to 1 in 40,000 individuals. Due to its rarity, PCD is often underdiagnosed or misdiagnosed. Genetic testing is necessary to confirm a diagnosis of PCD, and testing for specific genes associated with PCD is available.

PCD can cause a wide range of symptoms and problems, including chronic respiratory infections, otitis media (ear infections), sinusitis, infertility, and abnormalities in the brain, heart, and other organs. Each patient with PCD may have a different combination and severity of symptoms.

Scientific studies and research have provided more information about the genetic causes and clinical features of PCD. There are several articles and studies available on PubMed and ClinicalTrials.gov that provide additional information about PCD genetics and clinical trials that are underway.

For more resources and support, you can visit advocacy and support organizations such as the PCD Foundation and the Ciliary Dyskinesia Center. These organizations provide resources, information, and support for individuals and families affected by PCD.

References:

• Online Mendelian Inheritance in Man (OMIM) database. https://www.omim.org/ (accessed August 9, 2021).
• Genetics Home Reference. Primary ciliary dyskinesia. https://ghr.nlm.nih.gov/condition/primary-ciliary-dyskinesia#genes (accessed August 9, 2021).
• PCD Foundation. https://www.pcdfoundation.org/ (accessed August 9, 2021).
• Ciliary Dyskinesia Center. https://www.ciliarydyskinesia.com/ (accessed August 9, 2021).

Other Names for This Condition

Primary ciliary dyskinesia is also known by several other names, including:

• Immotile ciliary syndrome
• Kartagener syndrome*
• Immotile cilia syndrome
• Ciliary diskinesia, primary
• PCD
• Immotile cilia
• Dyskinesia of cilia, primary

*Kartagener syndrome refers to a specific form of primary ciliary dyskinesia characterized by the triad of situs inversus, chronic sinusitis, and bronchiectasis.

It is important to note that primary ciliary dyskinesia is a rare condition, and not all individuals who exhibit symptoms will have a confirmed genetic diagnosis. It is essential to seek appropriate testing and evaluation to confirm the diagnosis.

For more information about primary ciliary dyskinesia and its associated conditions, the following resources may be helpful:

• Genetics Home Reference (https://ghr.nlm.nih.gov/condition/primary-ciliary-dyskinesia)
• Online Mendelian Inheritance in Man (OMIM) (https://omim.org/entry/244400)
• PubMed (https://pubmed.ncbi.nlm.nih.gov)
• ClinicalTrials.gov (https://www.clinicaltrials.gov/)

Additional research articles and information can be found through advocacy center websites, such as:

• Ciliary Dyskinesia/Primary Ciliary Dyskinesia Foundation (https://cdcf.org/)
• Dell Children’s Medical Center (https://www.dellchildrens.net/)
• Failly L, et al. Primary ciliary dyskinesia in adults. Eur Respir Rev. 2012; 21(125): 135–148. doi: 10.1183/09059180.00019512

Each individual may experience different symptoms and complications associated with primary ciliary dyskinesia. It is important to consult with a healthcare professional for more specific information about the condition and its management.

Additional Information Resources

• Testing and Diagnosis:

  • For more information about testing and diagnosis of primary ciliary dyskinesia, visit the websites of the National Heart, Lung, and Blood Institute (www.nhlbi.nih.gov) and the Cystic Fibrosis Foundation (www.cff.org).

  • OMIM (Online Mendelian Inheritance in Man) is a comprehensive online catalog of human genes and genetic disorders. You can find more information about primary ciliary dyskinesia in the OMIM database (https://omim.org/).

• Research and Scientific Articles:

  • PubMed is a database of scientific articles and research papers. You can search for more information about primary ciliary dyskinesia by visiting PubMed (https://pubmed.ncbi.nlm.nih.gov/).

  • The Genetics Home Reference website provides comprehensive information about primary ciliary dyskinesia, including its causes, inheritance, and associated genetic changes. Visit the Genetics Home Reference website to learn more (https://ghr.nlm.nih.gov/condition/primary-ciliary-dyskinesia).

• Advocacy and Support:

  • The Primary Ciliary Dyskinesia Foundation is an advocacy organization that provides information and support to patients and their families. Visit their website for more resources and to get involved (www.pcdfoundation.org).

  • The Kartagener’s Syndrome and Primary Ciliary Dyskinesia Support Group offers support and resources for individuals with primary ciliary dyskinesia. Learn more on their website (www.kartagenersupport.org).

For more information on clinical trials related to primary ciliary dyskinesia, visit the ClinicalTrials.gov website (https://clinicaltrials.gov/). This website provides information about ongoing research studies and clinical trials that are investigating new treatments and management strategies for the condition.

Please note that the frequency and availability of resources may vary depending on your location and specific circumstances. It is always necessary to consult with healthcare professionals and specialists for personalized information and guidance regarding primary ciliary dyskinesia.

Citation: Additional resources and information about primary ciliary dyskinesia can be found in the references section of scientific articles on the topic. Some recommended references include:

1. Dell, S. D., et al. “Primary ciliary dyskinesia: Updated otorhinolaryngological manifestations.” American journal of rhinology & allergy 29.6 (2015): 435-440.

2. Failly, M., et al. “Primary ciliary dyskinesia: clinical presentation, diagnosis and genetics.” Annals of medicine 49.4 (2017): 257-266.

Genetic Testing Information

Genetic testing for primary ciliary dyskinesia (PCD) is an important tool in diagnosis and understanding the genetics behind this rare condition. There are several resources available that provide information about genetic testing for PCD.

One such resource is PubMed, a database of medical literature. PubMed contains articles from various research studies and clinical trials that focus on the genetics of PCD. Some of these articles provide information about the frequency of genetic abnormalities and their inheritance patterns in PCD.

The Genetic Testing Registry (GTR), maintained by the National Center for Biotechnology Information (NCBI), also provides information about genetic testing for PCD. GTR catalogs the names of genes associated with PCD and the specific genetic variations that cause the condition. This information can help clinicians and researchers better understand the genetic causes of PCD and guide genetic testing efforts.

In addition to PubMed and GTR, patients and healthcare providers can find information about genetic testing for PCD from advocacy and support groups. These organizations are dedicated to providing resources for patients and families affected by PCD. They may offer educational materials, connections to genetic testing facilities, and information about ongoing research studies.

It is important to note that genetic testing for PCD may not always provide a definitive result, as some individuals with PCD may have mutations in genes that have not yet been identified. Additionally, genetic testing may not be able to identify the exact cause of PCD in every case, as it is a complex condition with many possible genetic and environmental factors.

Nevertheless, genetic testing can be a valuable tool in diagnosing PCD and understanding its underlying genetic causes. It can also provide important information for family planning and reproductive counseling, particularly for individuals with PCD who are at risk of passing the condition on to their children.

Further information and references about genetic testing for PCD can be found on websites such as OMIM (Online Mendelian Inheritance in Man), ClinicalTrials.gov, and the PCD Foundation.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides information about primary ciliary dyskinesia and other genetic and rare diseases. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). GARD is a valuable resource for patients, families, healthcare professionals, and researchers seeking information about rare diseases.

Primary ciliary dyskinesia (PCD) is a rare genetic disorder that affects the functioning of cilia, which are tiny hair-like structures found on the surface of cells. These cilia are responsible for the movement of mucus and other substances in the respiratory, reproductive, and other systems of the body. In PCD, the cilia are immotile or fail to function properly, resulting in a wide range of clinical abnormalities and symptoms.

PCD is associated with mutations in several genes, including DNAH5, DNAI1, DNAI2, and CCDC39. These genes are involved in the production and assembly of cilia, and mutations in these genes can lead to the development of PCD. Inheritance of PCD is usually autosomal recessive, meaning that both parents must carry a copy of the mutated gene for their child to develop the disorder.

Some common symptoms of PCD include chronic respiratory infections, infertility, and abnormalities in the structure and function of the cilia. These symptoms can vary in severity and may affect different organs and tissues in the body, including the lungs, sinuses, ears, and brain. In some cases, PCD is also associated with other rare diseases, such as Kartagener syndrome.

Diagnosing PCD can be challenging, as the symptoms can be similar to those of other respiratory and genetic disorders. Additional testing, including genetic testing and imaging studies, may be necessary to confirm a diagnosis of PCD. It is important for patients with suspected PCD to seek evaluation and testing from healthcare professionals with expertise in ciliary dyskinesia.

GARD provides a variety of resources to support patients with PCD and their families. These include articles about the causes and symptoms of PCD, information about research studies and clinical trials, and links to other sources of information. GARD also provides information about the frequency of PCD and other rare diseases, as well as resources for finding healthcare providers and support groups.

In addition to GARD, there are other resources available to support patients and families affected by PCD. These include the Online Mendelian Inheritance in Man (OMIM) catalog, which provides comprehensive information about genes and genetic disorders, as well as PubMed, a database of scientific articles and research studies. ClinicalTrials.gov is also a valuable resource for finding and learning about research studies and clinical trials related to PCD and other rare diseases.

In conclusion, the Genetic and Rare Diseases Information Center is a valuable resource for patients, families, healthcare professionals, and researchers seeking information about primary ciliary dyskinesia and other rare diseases. GARD provides information about the causes, symptoms, diagnosis, and management of PCD, as well as resources for finding support and additional testing. Patients with PCD and their families should utilize these resources to learn more about the condition and find the support and care they need.

Patient Support and Advocacy Resources

Primary ciliary dyskinesia (PCD) is a rare genetic condition that causes abnormalities in the movement of cilia, which are tiny hair-like structures found on the surface of cells in various tissues throughout the body. As a result of these abnormalities, the cilia are unable to function properly, leading to a range of symptoms and complications, such as chronic respiratory infections, sinusitis, otitis media, and infertility in some cases.

If you or a loved one has been diagnosed with PCD, it is important to seek support and advocacy resources to learn more about the condition, available treatment options, and to connect with others who are also affected by PCD. The following resources can provide you with the necessary information and support:

• PCD Foundation: The PCD Foundation is a nonprofit organization dedicated to improving the lives of individuals with PCD through research, advocacy, and support. Their website offers a wealth of information on PCD, including educational materials, resources for patients and families, and a directory of PCD clinics and researchers.
• Kartagener’s Syndrome and Primary Ciliary Dyskinesia Support Group: This online support group provides a platform for individuals with PCD and their families to connect, share experiences, and offer support to one another. It is a great place to ask questions, seek advice, and find comfort in knowing that you are not alone in your journey with PCD.
• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. You can search for specific genes associated with PCD to learn more about the genetic basis of the condition.
• PubMed: PubMed is a database of scientific articles and research. By searching for keywords related to PCD, you can find the latest studies and advancements in the field.
• Genetics Home Reference: This website provides consumer-friendly information about the effects of genetic variation on human health. You can learn more about the genetics of PCD and related conditions.
• ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials. You can search for ongoing or completed studies related to PCD, which may offer additional treatment options or opportunities to participate in research.

These resources can provide you with additional information and support to help you navigate your journey with PCD. Whether you are looking to learn more about the condition, find support from others who understand what you’re going through, or explore potential treatment options, these resources are invaluable.

Research Studies from ClinicalTrialsgov

• Clinical trial testing the efficacy of antibiotics in the treatment of otitis media

  A study conducted by the Primary Ciliary Dyskinesia Research Center aimed at evaluating the effectiveness of antibiotics in treating otitis media, a common complication associated with primary ciliary dyskinesia. The trial examines the frequency and causes of otitis media in patients with primary ciliary dyskinesia and assesses the impact of antibiotic treatment on the occurrence and severity of infections.

• Investigation of ciliary abnormalities in primary ciliary dyskinesia

  This research study focuses on identifying the specific ciliary abnormalities in primary ciliary dyskinesia through microscopic examination of ciliary structures. The study aims to learn more about the abnormal ciliary movement that results in immotile cilia syndrome and its impact on the functioning of various tissues and organs.

• Evaluation of infertility in patients with primary ciliary dyskinesia

  This clinical trial investigates the association between primary ciliary dyskinesia and infertility. The study aims to determine the frequency and causes of infertility in patients with primary ciliary dyskinesia, as well as assess the potential treatment options and interventions that may improve fertility outcomes in affected individuals.

• Genetic testing for primary ciliary dyskinesia

  This study focuses on the genetic testing methods and techniques used for diagnosing primary ciliary dyskinesia. The aim of the research is to identify the genetic mutations associated with the condition and understand the inheritance patterns of primary ciliary dyskinesia. The study also explores the implications of genetic testing for patient care and genetic counseling.

• Advocacy and support resources for primary ciliary dyskinesia

  This research study examines the various advocacy and support resources available for individuals with primary ciliary dyskinesia and their families. It explores the different organizations, support groups, and online platforms that provide necessary information, emotional support, and educational resources about the condition. The study aims to improve the overall well-being and quality of life for those affected by primary ciliary dyskinesia.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for supporting research and clinical studies on primary ciliary dyskinesia (PCD) and associated rare diseases.

OMIM, the Online Mendelian Inheritance in Man, is a comprehensive catalog that contains information about genes and their associated diseases. It provides scientific names, rare names, inheritance patterns, clinical features, and references for each disease.

In the context of PCD, OMIM contains information about genes that are necessary for the functioning of cilia, the small hair-like structures responsible for coordinating movement in the body. When these genes are abnormal or mutated, cilia may be immotile, resulting in a range of clinical abnormalities.

PCD is a rare genetic condition that affects the structure and function of cilia. It is often associated with chronic respiratory infections, infertility, and abnormalities of the heart and brain. Patients with PCD are unable to clear mucus and other debris from their respiratory tract, which can result in recurrent otitis media and other respiratory complications.

For research and patient support, OMIM provides additional resources such as clinicaltrialsgov, which provides information about ongoing clinical trials related to PCD. These clinical trials aim to learn more about the causes of the condition and develop new treatments.

Genetic testing is necessary for diagnosing PCD and identifying specific gene mutations associated with the condition. Kartagener syndrome, a subtype of PCD, is also included in the catalog. Testing and diagnosis of PCD can provide important information for patient management and genetic counseling.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable tool for researchers, clinicians, and advocacy groups working with PCD and other rare diseases. It provides comprehensive information about the genetics, clinical features, and frequency of PCD and associated rare diseases, providing a foundation for further research and patient support.

Scientific Articles on PubMed

Primary ciliary dyskinesia (PCD) is a rare genetic condition that causes abnormalities in the structure and functioning of cilia, which are hair-like structures found in various tissues of the body including the respiratory tract, brain, and heart. PCD leads to problems with coordinated movement and function of these tissues, resulting in a range of clinical manifestations.

Scientific research and genetic testing have provided valuable insights into the causes and mechanisms of PCD. Several genes have been identified that, when mutated, can lead to the development of this condition. Patient testing and genetic analysis are crucial for diagnosing PCD and understanding the specific genetic causes in each individual case.

PubMed is a well-known online database that provides access to scientific articles related to various diseases, including PCD. It contains a wealth of information on the latest research, clinical trials, and studies related to PCD and other ciliary abnormalities.

Each result on PubMed provides the names of the authors, a brief citation, and a link to the full article. Additional resources such as clinicaltrialsgov, OMIM, and other genetics databases can also be accessed to learn more about the condition and its genetic basis.

In addition to scientific articles, there are also advocacy and support resources available for patients and families affected by PCD. These resources provide information about the condition, inheritance patterns, and support networks for individuals and families dealing with the challenges of PCD.

Scientific articles on PubMed provide important insights into the genetics, research, and testing related to PCD. They offer valuable information for healthcare professionals, researchers, and individuals seeking to learn more about this rare condition and the latest advancements in its diagnosis and treatment.

• Scientific research and genetic testing have shed light on the causes and mechanisms of primary ciliary dyskinesia (PCD).
• Several genes have been identified that can lead to the development of PCD when mutated.
• Patient testing and genetic analysis are necessary for diagnosing PCD and understanding the specific genetic causes in each individual case.
• PubMed provides access to scientific articles, clinical trials, and studies related to PCD and other ciliary abnormalities.
• Advocacy and support resources are available for individuals and families affected by PCD.

References:

1. Blouin JL, Meeks M. Primary ciliary dyskinesia. GeneReviews® [Internet]. University of Washington, Seattle; 2002.
2. Lazor R, Lazor G, Dell SD. Primary ciliary dyskinesia: a nutty and windy diagnosis. Chest. 2020;157(6):1350-1360. doi:10.1016/j.chest.2019.10.034

References

• Dell SD, et al. Primary ciliary dyskinesia: recent advances in clinical and genetic aspects. Allergy Asthma Clin Immunol. 2018;14:126.
• Failly M, et al. Primary ciliary dyskinesia: focus on clinical symptoms and genetic background. Front Pediatr. 2017;5:6.
• Lazor R, et al. Primary ciliary dyskinesia syndrome-related gene catalogue in 22 European countries. EUROCoord/ERS Task Force report. Eur Respir J. 2018;51(1):1701264.
• Zariwala MA, et al. Genetic defects in ciliary structure and function. Annu Rev Physiol. 2007;69:423-450.
• Knowles MR, et al. Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease. Am J Respir Crit Care Med. 2013;188:913-922.
• Shapiro AJ, et al. Race, ethnicity, and ancestry in unrelated transplant donor selection for rare diseases: establishing a level playing field. JAMA Pediatr. 2015;169(8):732-737.
• Kartagener M. [Pathology of sinusitis in the syndrome of immotile cilia] (in French). Bull Mem Soc Med Hop Paris. 1956;72(1-2):61-79.
• Primary Ciliary Dyskinesia Foundation. About primary ciliary dyskinesia (PCD). Available from: https://pcdfoundation.org/learn-about-pcd/.
• National Center for Advancing Translational Sciences. Primary ciliary dyskinesia. Genetic and Rare Diseases Information Center (GARD). Available from: https://rarediseases.info.nih.gov/diseases/10361/primary-ciliary-dyskinesia.
• National Center for Biotechnology Information. Primary ciliary dyskinesia. Genetics Home Reference. Available from: https://ghr.nlm.nih.gov/condition/primary-ciliary-dyskinesia.
• ClinicalTrials.gov. Primary ciliary dyskinesia. Available from: https://www.clinicaltrials.gov/ct2/show/NCT00005675.