Disease: Albinism immunodeficiency
- A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation
- Acute cerebellar ataxia in Griscelli syndrome type 2
- Asymptomatic viral infection is associated with lower host reproductive output in wild mink populations
- Chediak-Higashi Syndrome
- Chediak-Higashi syndrome
- Diagnostic peripheral blood smear for Chédiak-Higashi syndrome in a 43-month-old boy, confirmed by sequencing
- First Report of Skunk Amdoparvovirus (Species <em>Carnivore amdoparvovirus 4</em>) in Europe in a Captive Striped Skunk (<em>Mephitis mephitis</em>)
- Genetic and phenotypic correlations between Aleutian disease tests with body weight, growth, and feed efficiency traits in mink
- Genetics in Idiopathic Pulmonary Fibrosis: A Clinical Perspective
- Griscelli Syndrome Type 1: Hair Microscopy Clinches the Diagnosis
- Griscelli Syndrome Type 2 Presenting with Isolated Neurologic Disorder
- Hermansky-Pudlak Syndrome
- Identification of novel variants in a Chinese patient with Chediak-Higashi syndrome
- iPS cells from Chediak-Higashi syndrome patients recapitulate the giant granules in myeloid cells
- Long-term antibody production and viremia in American mink (Neovison vison) challenged with Aleutian mink disease virus
- LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size
- Management of Severe Neutropenia in a Child With Chediak-Higashi Syndrome Using Granulocyte-Colony Stimulating Factor (G-CSF): A Case Report
- Neonatal Onset of Hemophagocytic Lymphohistiocytosis Due to Prenatal Varicella-Zoster Infection in a Neonate with Griscelli Syndrome Type 2
- Pseudo-Chédiak-Higashi anomaly in acute myeloid leukemia
- Rare Pseudo-Chediak-Higashi Inclusions in Therapy-Related Acute Myeloid Leukemia with Myelodysplasia-Related Changes
- Spectrum of <em>LYST</em> mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature
- Strong selection signatures for Aleutian disease tolerance acting on novel candidate genes linked to immune and cellular responses in American mink (Neogale vison)
- Successful haploidentical bone marrow transplantation in Griscelli syndrome type 2 with non-busulfan-based regimen and post-transplantation cyclophosphamide: a case report and review of the literature
- Successful use of emapalumab in refractory hemophagocytic lymphohistiocytosis in a child with Chédiak-Higashi syndrome: a case report
- Survival in primary hemophagocytic lymphohistiocytosis, 2016 to 2021: etoposide is better than its reputation