Novel Genetic Disorders of the Immune System

Conditions

• CTLA4
• MAGT1
• PI3KCD
• STAT3GOF

Eligibility Criteria

Sex

ALL

Age

3 Years - 99 Years

Healthy Volunteers

Not accepted

Study Details

Background: \- The immune system helps the body fight infection and disease. People with immune system problems can get infections, blood disorders, and other health problems. Researchers want to learn more about the immune system, like what causes it to not work properly. Objectives: \- To evaluate people with certain types of immune system disorders. Eligibility: \- Adults and children with an immune disorder or symptoms of one, and their relatives. Some disorders are not included in this study. Design: * Researchers will review participants medical records. * Participants may mail in a blood or saliva sample, or be evaluated at the clinic. At the clinic, they may have a medical history, physical exam, blood tests, and imaging scans (with dye given through a needle in the arm). They may have genetic testing done on a sample of blood, saliva, hair, or nail clipping. * Participants may choose to have a skin biopsy. Up to 2 skin samples will be taken from their arm, back, or other area. A biopsy punch is inserted into the skin and rotated. A small circle of skin is removed. * Participants 10 and older may also choose to have leukapheresis. Blood is taken through a needle in one arm. It passes through a machine that separates the white blood cells. The rest of the blood is returned by needle in the other arm. * Researchers may recommend medicines, but no treatments are being studied. * Participants may be invited to return for visits over several years. At those visits, they may repeat some or all of the above tests. Or they may mail in blood or other samples. They may also send medical records.

Key Dates

Start date

Oct 22, 2014

Status verified

Jan 2026

Primary completion

Aug 30, 2026

Completion

Aug 30, 2026

Study Design

Enrollment

500 participants (estimated)

Arms

• Arm: Patients
  Affected patients, with symptoms or genetic mutation
• Arm: Unaffected/healthy relatives
  Relatives without symptoms or genetic mutation

Primary Outcome Measure

discover novel genes in undiagnosed immune disorders [ Time Frame: ongoing ]

Central Contacts

• Alanvin D Orpia, R.N.
  (240) 550-3663
  [email protected]
• V. Koneti Rao, M.D.
  (301) 496-6502
  [email protected]

Locations (1)

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