chediak-higashi syndrome

BACKGROUND: Hemophagocyticlymphohistiocytosis (HLH) is a spectrum of immune activation which could be genetically determined, or secondaryto an underlying illness. Our aim was to present the clinico-genetic aspects ofHLH among Egyptian children and to evaluate the patterns of reactivation and outcomewith illustrations of overlap manifestations. RESEARCH DESIGNAND METHODS: We retrospectively collected the data of 55patients with HLH, registered at Ain Shams University Children's Hospital,Cairo, Egypt...

The congenital neutropenia syndromes are rare haematological conditions defined by impaired myeloid precursor differentiation or function. Patients are prone to severe infections with high mortality rates in early life. While some patients benefit from granulocyte colony-stimulating factor treatment, they may still face an increased risk of bone marrow failure, myelodysplastic syndrome and acute leukaemia. Accurate diagnosis is crucial for improved outcomes; however, diagnosis depends on familiarity with a heterogeneous group of rare disorders that remain incompletely characterised...

Pseudo-Chediak-Higashi granules are large cytoplasmic inclusions commonly encountered in myeloblasts or other myeloid precursors in acute myeloid leukemia and myelodysplastic syndromes. However, pseudo-Chediak-Higashi granules are rarely found in acute lymphoblastic leukemia (ALL). We present the case of an 8-year-old boy who was diagnosed with ALL with pseudo-Chediak-Higashi granules in the initial diagnosis and relapse, acting like a characteristic marker.

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Chediak-Higashi syndrome (CHS) is a congenital immunodeficiency disorder characterized by recurrent bacterial infections, oculocutaneous albinism, and abnormal intracellular protein transport. The incidence of CHS is rare, with approximately 500 cases reported so far. One of the key immunological features of CHS is neutropenia. The management of CHS includes supportive treatment, chemotherapy, methylprednisolone, IL-2 administration, and hematopoietic stem cell transplantation (HSCT). However, neutropenia can persist even after these treatments...

OBJECTIVE: To study the effect of the COVID-19 pandemic on the early termination of ophthalmology clinical trials. METHODS: On June 10, 2022, we searched ClinicalTrials.gov and identified clinical trials pertaining to eye diseases. We included trials last updated between January 1, 2020 and June 8, 2022, as ones possibly impacted by the pandemic. We selected all interventional trials in any stage and country that were "recruiting," "active, not recruiting," "enrolling by invitation," "suspended," "terminated," "completed," or "withdrawn" and excluded trials that had been completed or discontinued before 2020, had incomplete data, trials in which the eye was not the primary focus of the trial (e...

INTRODUCTION: Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterised by partial oculocutaneous albinism, a bleeding diathesis, immunological dysfunction and neurological impairment. Bi-allelic loss-of-function variants in LYST cause CHS. LYST encodes the lysosomal trafficking regulator, a highly conserved 429 kDa cytoplasmic protein with an unknown function. METHODS: To further our understanding of the pathogenesis of CHS, we conducted clinical evaluations on individuals with CHS enrolled in our natural history study...

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Silver hair syndromes (SHS) consist of rare autosomal recessive disorders, Chediak-Higashi syndrome (CHS), Griscelli syndrome (GS), and Elejalde disease. CHS is a disorder of vesicle trafficking; characterized by silvery hair, diffuse pigment dilution, immunodeficiency, bleeding diathesis, neurological manifestations, and an accelerated phase due to lymphohistiocytic infiltration. GS is characterized by hypopigmentation of skin and hair, with large clumps of pigment in the hair shaft. There are three types of GS...

INTRODUCTION: Griscelli syndrome (GS) is a very rare autosomal recessive disorder, belongs to group of "silvery hair syndromes" which includes Chediak-Higashi syndrome (CHS) and Elejalde syndrome. Hair light microscopy helps in the differentiation of GS and CHS, as both manifest with clinical features. Trichoscopy is useful in the diagnosis of many hair shaft disorders. Here, authors describe the trichoscopic features of GS in skin of color. MATERIALS AND METHODS: This was an observational study conducted in a private dermatology clinic and in a tertiary care hospital...

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PURPOSE OF REVIEW: Chediak-Higashi syndrome is a rare autosomal recessive disorder characterized by congenital immunodeficiency, bleeding diathesis, pyogenic infection, partial oculocutaneous albinism, and progressive neurodegeneration. Treatment is hematopoietic stem cell transplantation or bone marrow transplantation; however, this does not treat the neurologic aspect of the disease. Mutations in the lysosomal trafficking regulator (LYST) gene were identified to be causative of Chediak-Higashi, but despite many analyses, there is little functional information about the LYST protein...

Ciliates, such as Tetrahymena thermophila, evolved complex mechanisms to determine both the location and dimensions of cortical organelles such as the oral apparatus (OA: involved in phagocytosis) cytoproct (Cyp: for eliminating wastes) and contractile vacuole pores (CVPs: involved in water expulsion). Mutations have been recovered in Tetrahymena that affect both the localization of such organelles along anterior-posterior and circumferential body axes, and their dimensions. Here we describe BCD1, a ciliate pattern-gene that encodes a conserved beige-BEACH-domain containing protein a with possible PKA-anchoring activity...

BACKGROUND: Defined as rare large azurophilic cytoplasmic inclusions, Pseudo-Chediak-Higashi granules mimic those in granulocytes cytoplasm of Chediak-Higashi syndrome. Rare cases of hematopoietic and lymphoid tissues tumors showed Pseudo-Chediak-Higashi inclusions in cytoplasm, some of which presented with unusual morphological characteristics. METHODS: Herein, we report the first case, in which rare pseudo-Chediak-Higashi inclusions were observed in therapy-related acute myeloid leukemia with myelodysplasia-related changes (t-AML-MRC)...

BACKGROUND: Hemophagocytic lymphohistiocytosis is a life-threatening disease heralded by fever, cytopenia, hepatosplenomegaly, and multisystem organ failure. Its association with genetic mutations, infections, autoimmune disorders, and malignancies is widely reported. CASE PRESENTATION: A 3-year-old male Arab Saudi patient with insignificant past medical history and parental consanguinity presented with abdominal distension of moderate severity and persistent fever despite receiving antibiotics...

Introduction: Chediak-Higashi syndrome (CHS) is rare autosomal recessive disorder caused by bi-allelic variants in the Lysosomal Trafficking Regulator ( LYST ) gene. Diagnosis is established by the detection of pathogenic variants in LYST in combination with clinical evidence of disease. Conventional molecular genetic testing of LYST by genomic DNA (gDNA) Sanger sequencing detects the majority of pathogenic variants, but some remain undetected for several individuals clinically diagnosed with CHS. In this study, cDNA Sanger sequencing was pursued as a complementary method to identify variant alleles that are undetected by gDNA Sanger sequencing and to increase molecular diagnostic yield...

Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder caused by biallelic mutations in the lysosomal trafficking regulator (LYST) gene. Even though enlarged lysosomes and/or lysosome-related organelles (LROs) are the typical cellular hallmarks of CHS, they have not been investigated in human neuronal models. Moreover, how and why the loss of LYST function causes a lysosome phenotype in cells has not been elucidated. We report that the LYST-deficient human neuronal model exhibits lysosome depletion accompanied by hyperelongated tubules extruding from enlarged autolysosomes...

PURPOSE: To describe the relationships between foveal structure and visual function in a cohort of individuals with foveal hypoplasia (FH) and to estimate FH grade and visual acuity using a deep learning classifier. DESIGN: Retrospective cohort study and experimental study. PARTICIPANTS: A total of 201 patients with FH were evaluated at the National Eye Institute from 2004 to 2018. METHODS: Structural components of foveal OCT scans and corresponding clinical data were analyzed to assess their contributions to visual acuity...

OBJECTIVE: To explore the genetic basis for a child featuring Chediak-Higashi syndrome (CHS). METHODS: Clinical manifestations and results of auxiliary examination of the proband were analyzed. The proband was subjected to whole exome sequencing, and the results were verified by Sanger sequencing. Correlation between the genotype and clinical phenotype was analyzed. RESULTS: The proband showed partial skin albinism, recurrent respiratory infection and other immune deficiencies...

BACKGROUND: Chediak-Higashi syndrome (CHS) is a congenital disease characterized by immunodeficiency, hemophagocytic lymphohistiocytosis, oculocutaneous albinism, and neurological symptoms. The presence of giant granules in peripheral blood leukocytes is an important hallmark of CHS. Here we prepared induced pluripotent stem cells (iPSCs) from CHS patients (CHS-iPSCs) and differentiated them into hematopoietic cells to model the disease phenotypes. METHODS: Fibroblasts were obtained from two CHS patients and then reprogrammed into iPSCs...