Griscelli syndrome type 2
MONDO:0011872Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood.
Also known as: GS2, Griscelli syndrome type 2, Griscelli syndrome with hemophagocytic syndrome, Griscelli-PruniC)ras syndrome type 2, Griscelli-Pruniéras syndrome type 2, Griscelli-Pruni��ras syndrome type 2, PAID syndrome, hypopigmentation-immunodeficiency with or without neurologic impairment syndrome
42 clinical trials for this condition and its sub-types, 1 tagged with Griscelli syndrome type 2 itself.
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Could a stool sample replace a spinal tap? new study tests Non-Invasive infection detection
Diagnosis Not yet recruitingThis study will test whether analyzing stool and urine samples using a technique called metagenomics can find infections in people with weakened immune systems (due to HIV, chemotherapy, or immunosuppressive drugs). Currently, doctors often need to take invasive samples like bloo…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Diagnosis
Last updated Jun 27, 2026 12:36 UTC
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Which infusion pump do patients prefer? new study aims to find out
Symptom relief Not yet recruitingThis study looks at how patients with primary or secondary immunodeficiency feel about using mechanical versus electronic infusion pumps for their immunoglobulin therapy. About 52 adults who have used electronic pumps will try a mechanical pump for three months and then report th…
Sponsor: KORU Medical Systems, Inc. • Aim: Symptom relief
Last updated Jun 27, 2026 07:51 UTC
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Can a Life-Saving transplant leave hidden scars on a Child's mind?
Knowledge-focused Not yet recruitingThis study looks at children aged 6 to 8 who had a stem cell transplant at least two years ago to treat a primary immunodeficiency—a genetic condition that weakens the immune system. Researchers will use standardized tests and interviews to measure the children's thinking skills,…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Aug 16, 2026 00:00 UTC
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New study aims to unravel mysteries of immune disorder complications
Knowledge-focused Not yet recruitingThis study looks back at medical records of about 60 people with primary immune deficiencies who also developed lymphoproliferative disorders (abnormal growth of immune cells). The goal is to track their health over time, including risks of death, cancer, or organ damage. By iden…
Sponsor: Central Hospital, Nancy, France • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:06 UTC
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New study to measure how immune disorders impact Kids' happiness
Knowledge-focused Not yet recruitingThis study looks at how children aged 6 to 18 with inborn errors of immunity (a condition where the immune system doesn't work properly) feel about their quality of life. Researchers will compare their answers to those of healthy children using a special questionnaire. The goal i…
Sponsor: Sohag University • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:01 UTC