Studies of Disorders With Increased Susceptibility to Fungal Infections

NCT01222741 | Recruiting

• 2 other identifiers: 10021610-I-0216
• Study Type: observational
• Target: 850
• Locations: 1 country
• Sites: 1

Brief Summary

Background: \- Researchers are interested in studying disorders that make individuals more susceptible to fungal infections, specifically infections with the Candida yeast. These disorders are often related to problems with the immune system and may have genetic factors, which suggests that researchers should study not only the individual with the disorder, but also his or her first- and second-degree relatives (such as parents, siblings, children, and first cousins). To provide material for future research, individuals with immune disorders and their first- and second-degree relatives will be asked to provide blood and other samples for testing and comparison with samples taken from healthy volunteers with no history of immune disorders. Objectives: \- To collect blood and other biological samples to study immune disorders that make individuals more susceptible to fungal infections. Eligibility:

• Individuals of any age who have abnormal immune function characterized by recurrent or unusual fungal infections, recurrent or chronic inflammation, or other types of immune dysfunction.
• First- or second-degree genetically related family members (limited to mother, father, siblings, grandparents, children, aunts, uncles, and first cousins).
• Healthy volunteers at least 18 years of age (for comparison purposes). Design:
• Participants will provide blood samples and buccal (cells from the inside of the mouth near the cheek) samples.
• Participants with immune disorders will also be asked to provide urine samples, saliva or mucosal samples, or skin tissue biopsies, and may also have imaging studies (such as x-rays) to collect information for research.
• Samples may be collected at the National Institutes of Health or at other clinical locations for the samples to the sent to the National Institutes of Health.
• No treatment will be provided as part of this protocol....

Conditions

Fungal Infections; Primary Immune Deficiencies

Keywords

PID; Primary Immune Deficiencies; Candida; Immune Abnormalities; Diabetic; Natural History

Outcome Measures

Primary Outcomes (4)

• characterization

  Characterize and compare the clinical and laboratory features of APECED, CMC, and other primary immunodeficiencies or particular conditions (such as infancy or diabetic subjects) with increased susceptibility to Candida or other fungal infections.

  10 years

• Determine the prevalence of mutation

  Determine the prevalence of AIRE mutations in patients with increased susceptibility to Candida or other fungal infections.

  10 years

• genotype-phenotype correlation

  Establish a genotype-phenotype correlation in patients with different AIRE mutations.

  10 years

• Determine and compare the functionality

  Determine and compare the functional integrity of Th17, Dectin1, and AIRE pathways in patients with increased susceptibility to Candida or other fungal infections with and without AIRE mutations

  10 years

Study Arms (3)

Healthy Voluntary

Healthy voluntary

Patients

affected patient

relatives

family member to patient

Eligibility Criteria

• Age: 18 Years - 85 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

patients with primary immune deficiencies, their first and second-degree blood relatives (relatives), and individuals with other conditions that result in increased susceptibility to Candida spp. infections. This study will also include healthy volunteer adults as a source of control samples.

You may qualify if:

• Patients
• To be eligible to participate in this study as a patient, an individual must meet the following criteria:
• Be 2 years of age to be seen at the Clinical Center as an outpatient. Children \<=3 years of age must not have severe infections, as assessed by the investigator, to be seen at the Clinical Center. Send-in samples may be submitted by participants \>30 days of age.
• Have an abnormality of immune function as manifested by recurrent or unusual fungal infections, recurrent or chronic inflammation, or previous laboratory evidence of immune dysfunction. Of particular focus of this study are patients with:
• APECED
• CMC
• MPO
• IPEX
• Hyper-immunoglobulin E syndrome (Job s syndrome)
• CGD
• Biotinidase deficiency
• IKAROS defects
• AIOLOS defects
• IRF4 defects
• Other conditions showing increased susceptibility to such infections as described in infants and type 1 diabetic patients

You may not qualify if:

• Patients and Relatives
• Healthy volunteers
• An individual who meets any of the following criteria will be excluded from participation as a healthy volunteer in this study:
• Is receiving chemotherapeutic agent(s) or has an underlying malignancy.
• Is pregnant.
• Has a history of heart, lung, or kidney disease, or bleeding disorders.
• Has HIV or viral hepatitis (B or C), or history of viral hepatitis B or C since age 11.

Sponsors & Collaborators

• National Institute of Allergy and Infectious Diseases (NIAID): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Publications (3)

• Glocker EO, Hennigs A, Nabavi M, Schaffer AA, Woellner C, Salzer U, Pfeifer D, Veelken H, Warnatz K, Tahami F, Jamal S, Manguiat A, Rezaei N, Amirzargar AA, Plebani A, Hannesschlager N, Gross O, Ruland J, Grimbacher B. A homozygous CARD9 mutation in a family with susceptibility to fungal infections. N Engl J Med. 2009 Oct 29;361(18):1727-35. doi: 10.1056/NEJMoa0810719.

  PMID: 19864672 BACKGROUND

• Plantinga TS, van der Velden WJ, Ferwerda B, van Spriel AB, Adema G, Feuth T, Donnelly JP, Brown GD, Kullberg BJ, Blijlevens NM, Netea MG. Early stop polymorphism in human DECTIN-1 is associated with increased candida colonization in hematopoietic stem cell transplant recipients. Clin Infect Dis. 2009 Sep 1;49(5):724-32. doi: 10.1086/604714.

  PMID: 19614557 BACKGROUND

• Perheentupa J. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab. 2006 Aug;91(8):2843-50. doi: 10.1210/jc.2005-2611. Epub 2006 May 9.

  PMID: 16684821 BACKGROUND

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Mycoses; Primary Immunodeficiency Diseases; Torulopsis

Condition Hierarchy (Ancestors)

Bacterial Infections and Mycoses; Infections; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immunologic Deficiency Syndromes; Immune System Diseases

Study Officials

• Sergio D Rosenzweig, M.D.

  National Institute of Allergy and Infectious Diseases (NIAID)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Sergio D Rosenzweig, M.D.

CONTACT

(301) 451-8971; srosenzweig@mail.nih.gov

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 15, 2010
• First Posted: October 18, 2010
• Study Start: January 7, 2011
• Last Updated: May 5, 2026

Record last verified: 2025-08-01

Locations

US (1)