Synonyms: Griscelli-Pruniéras syndrome type 2 | Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome
A rare subtype of Griscelli syndrome characterized by pigmentary dilution in skin and hair with irregular clumps of pigment in hair shafts resulting in silvery hair in association with increased susceptibility to recurrent infections and immunological abnormalities in particular impairment of T-cell and natural killer cytotoxic activity eventually leading to hemophagocytic lymphohistiocytosis. Patients may present neurological manifestations related to infiltration of the central nervous system in the context of the hemophagocytic syndrome. The disease is mostly fatal in the first decade of life.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
Newly diagnosed with
Griscelli syndrome type 2?
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Advocacy Organizations
Immune Deficiency Foundation
To improve the diagnosis, treatment and quality of life of people affected by primary immunodeficiency.
Immunocompromised Association
Immunocompromised Association promotes awareness, education, and support for immunocompromised individuals to reduce their inherent health risks in the community.
The AIP BIPOC Network
Our mission is to improve the quality of life of the BIPOC Autoimmune Community through Awareness, Advocacy, Action, Assessment and Access.
The Dynamite Foundation Inc
The Dynamite Foundation is on a heartfelt mission: to bring love, hope, and joy to individuals impacted by Histiocytosis around the world We do this through Dynamite the Histio Warrior Dragon™; a handcrafted crochet dragon sent to Histio Warriors in the midst of their battles, and to Angel Families remembering their loved ones through Angel Dynamite.
Ukrainian Association of Pediatric Immunology
Development of pediatric and clinical immunology in Ukraine. Raising awareness of inborn errors of immunity in Ukraine and rare immune diseases; Advocacy campaigns supporting patients with rare immune diseases and their treatment plans; Scientific research; Sharing knowledge about immunoprophylaxis; Advocacy campaigns supporting immunoprophylaxis.
Vision for Tomorrow Foundation
VFT is committed to funding promising research on aniridia and albinism and supporting families affected by these challenging genetic conditions.
accessia health
Accessia Health, a national charitable patient assistance organization, is dedicated to eliminating healthcare barriers for people with rare or chronic health conditions. Comprehensive services include personalized case management, financial assistance, education, and legal aid support. Our flexible funding model goes beyond copays, allowing individuals to pay for other essential medical expenses
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Clinical Trials
For a list of clinical trials in this disease area, please click here.