scholarly journals Chédiak-Higashi syndrome: presentation of seven cases

1998 ◽  
Vol 116 (6) ◽  
pp. 1873-1878 ◽  
Author(s):  
Eugénia Maria Grilo Carnide ◽  
Cristina Miuki Abe Jacob ◽  
Antonio Carlos Pastorino ◽  
Raquel Bellinati-Pires ◽  
Maria Beatriz Guimarães Costa ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Infectious Complications ◽  
Oculocutaneous Albinism ◽  
Recurrent Infections ◽  
Laboratory Findings ◽  
Public Care ◽  
Cytoplasmic Granules ◽  
Allergy And Immunology ◽  
Chediak Higashi Syndrome ◽  
Rare Autosomal Recessive Disease

CONTEXT: Chédiak-Higashi Syndrome (CHS) is a rare autosomal recessive disease characterized by recurrent infections, giant cytoplasmic granules, and oculocutaneous albinism. OBJECTIVE: To describe clinical and laboratory findings from CHS patients. DESIGN: Case report. SETTING: The patients were admitted into the Allergy and Immunology Unit of the Instituto da Criança, a tertiary public care institution. CASES REPORT: Seven patients had oculocutaneous albinism, recurrent infections and giant cytoplasmic granules in the leukocytes. One patient had low IgG levels and three showed impaired bactericidal activity of neutrophils. Six patients died of infectious complications during the accelerated phase. Therapy included ascorbic acid and antibiotics. Chemotherapy was used for the accelerated phase in two patients. Bone marrow transplantation (BMT) was proposed for one patient. DISCUSSION: The authors emphasize the need for early diagnosis and therapy of CHS. BMT should be indicated before the accelerated phase of the disease has developed.

scholarly journals Novel HeterogenousCHS1Mutations Identified in Five Japanese Patients with Chediak-Higashi Syndrome

2010 ◽  
Vol 2010 ◽  
pp. 1-5 ◽  
Author(s):  
Fuminori Tanabe ◽  
Hirotake Kasai ◽  
Michiko Morimoto ◽  
Shigeharu Oh ◽  
Hidetoshi Takada ◽  
...  
Keyword(s):  
Bacterial Infections ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Japanese Patients ◽  
Visual Disturbance ◽  
Oculocutaneous Albinism ◽  
Neurological Dysfunction ◽  
Nonsense Mutations ◽  
Chediak Higashi Syndrome ◽  
Exon 10

Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by oculocutaneous albinism, recurrent bacterial infections and progressive neurological dysfunction. We demonstrate novel heterogenous mutations ofCHS1, the responsive gene of CHS, identified in five Japanese patients with CHS. Patients 1, 2, and 3 were siblings, and they had albinism of the skin and hair. They all had a heterogenous two-base deletion (c.5541-5542 del AA, p.Q1847fsX1850) in exon 18. Patient 4 had a heterogenous single-base insertion (c.3944-3945 ins C, p.T1315fsX1331) in exon 10. The patient exhibited severe early-onset phenotype and suffered from hemophagocytic lymphohistiocytosis. Patient 5 had two heterogenous nonsense mutations; c.7982C>G, p.S2661X in exon 30 and c.8281A>T, p.R2761X in exon 31. The patient suffered from infections in childhood and had visual disturbance and albinism of the skin and hair. TheCHS1mutations described here have not been reported previously.

scholarly journals Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism

Genes ◽  
2021 ◽  
Vol 12 (4) ◽  
pp. 508
Author(s):  
Hwei Wuen Chan ◽  
Elena R. Schiff ◽  
Vijay K. Tailor ◽  
Samantha Malka ◽  
Magella M. Neveu ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Autosomal Recessive ◽  
Oculocutaneous Albinism ◽  
Whole Genome ◽  
Ocular Albinism ◽  
Panel Testing ◽  
Hereditary Disorders ◽  
Foveal Hypoplasia ◽  
Hermansky Pudlak Syndrome ◽  
Chediak Higashi Syndrome

Albinism encompasses a group of hereditary disorders characterized by reduced or absent ocular pigment and variable skin and/or hair involvement, with syndromic forms such as Hermansky–Pudlak syndrome and Chédiak–Higashi syndrome. Autosomal recessive oculocutaneous albinism (OCA) is phenotypically and genetically heterogenous (associated with seven genes). X-linked ocular albinism (OA) is associated with only one gene, GPR143. We report the clinical and genetic outcomes of 44 patients, from 40 unrelated families of diverse ethnicities, with query albinism presenting to the ocular genetics service at Moorfields Eye Hospital NHS Foundation Trust between November 2017 and October 2019. Thirty-six were children (≤ 16 years) with a median age of 31 months (range 2–186), and eight adults with a median age of 33 years (range 17–39); 52.3% (n = 23) were male. Genetic testing using whole genome sequencing (WGS, n = 9) or a targeted gene panel (n = 31) gave an overall diagnostic rate of 42.5% (44.4% (4/9) with WGS and 41.9% (13/31) with panel testing). Seventeen families had confirmed mutations in TYR (n = 9), OCA2, (n = 4), HPS1 (n = 1), HPS3 (n = 1), HPS6 (n = 1), and GPR143 (n = 1). Molecular diagnosis of albinism remains challenging due to factors such as missing heritability. Differential diagnoses must include SLC38A8-associated foveal hypoplasia and syndromic forms of albinism.

Hermansky-Pudlak Syndrome and Chediak-Higashi Syndrome: Disorders of Vesicle Formation and Trafficking

2001 ◽  
Vol 86 (07) ◽  
pp. 233-245 ◽  
Author(s):  
Marjan Huizing ◽  
Yair Anikster ◽  
William Gahl
Keyword(s):  
Autosomal Recessive ◽  
Dense Body ◽  
Oculocutaneous Albinism ◽  
Clinical Findings ◽  
Vesicle Formation ◽  
Platelet Storage ◽  
A Subunit ◽  
Hermansky Pudlak Syndrome ◽  
Chediak Higashi Syndrome ◽  
Golgi Network

SummaryThe rare autosomal recessive metabolic disorders Hermanky-Pudlak syndrome (HPS) and Chediak-Higashi syndrome (CHS) share the clinical findings of oculocutaneous albinism and a platelet storage pool deficiency. In addition, HPS exhibits ceroid lipofuscinosis and CHS is characterized by infections and an accelerated phase. The two disorders result from defects in vesicles of lysosomal lineage. Of the two known HPS-causing genes, HPS1 has no recognizable function, while ADTB3A codes for a subunit of an adaptor complex responsible for new vesicle formation from the trans-Golgi network. Other HPS-causing genes are likely to exist. The only known CHS-causing gene, LYST, codes for a large protein of unknown function. In general, HPS appears to be a disorder of vesicle formation and CHS a defect in vesicle trafficking. These diseases and their variants mirror a group of mouse hypopigmentation mutants. The gene products involved will reveal how the melanosome, platelet dense body, and lysosome are formed and trafficked within cells.

scholarly journals Chediak Higashi syndrome presenting in accelerated phase: a case report and literature review

2017 ◽  
Vol 4 (4) ◽  
pp. 1537
Author(s):  
SHRAVANI M. R. ◽  
Murali B. H. ◽  
Chandrakala Chandrakala ◽  
Chaitra Chaitra ◽  
Varshini Varshini
Keyword(s):  
Clinical Characteristics ◽  
Autosomal Recessive ◽  
Blood Smear ◽  
Hair Analysis ◽  
Peripheral Blood Smear ◽  
Oculocutaneous Albinism ◽  
Bleeding Diathesis ◽  
Lysosomal Disorder ◽  
Chediak Higashi Syndrome ◽  
Spleen And Lymph Nodes

Chediak Higashi syndrome (CHS) is a rare autosomal recessive lysosomal disorder characterized by frequent infections, oculocutaneous albinism, bleeding diathesis and progressive neurologic deterioration. In 85% of cases, CHS patients develop the accelerated phase characterized by pancytopenia, high fever, and lymphohistiocytic infiltration of liver, spleen, and lymph nodes. Treatment of accelerated-phase CHS is difficult and the prognosis is poor. Here, we report a case of CHS in a 1-year-old girl who presented in the accelerated phase of the disease. CHS diagnosis was made on the basis of clinical characteristics, hair analysis and identification of pathognomonic giant azurophilic granules in peripheral blood smear. 

scholarly journals Chediak-Higashi Syndrome in Accelerated Phase, a Case Report

2021 ◽  
Vol 1 (1) ◽  
Author(s):  
Artriz R
Keyword(s):  
Hemophagocytic Syndrome ◽  
Respiratory Infections ◽  
Autosomal Recessive Inheritance ◽  
Oculocutaneous Albinism ◽  
Clinical Findings ◽  
Genetic Abnormalities ◽  
History Of ◽  
Chediak Higashi Syndrome ◽  
Lysosomal Transport ◽  
Pro Inflammatory Cytokines

Chediak-Higashi syndrome corresponds to a series of genetic abnormalities in lysosomal transport, of autosomal recessive inheritance, characterized by partial oculocutaneous albinism and recurrent infections,1 usually between 7 and 10 years of age the accelerated phase of the disease, where developing hemophagocytic syndrome, given by a set of clinical findings, laboratory and histological studies where phagocytosis is prominent,2 with a failure in the regulation of the immune system due to an excessive production of pro-inflammatory cytokines that coexists with a dysfunction of natural killer cells and T lymphocytes, which leads to lethal development. We present a case of a 13-month-old patient, natural and from Pregonero, with a family history of consanguinity, recurrent respiratory infections, and a characteristic phenotype of Chediak-Higashi syndrome, without prior diagnosis or controls for this pathology, who presents with hemophagocytic syndrome leading to its death in 20 days.

Patient with ataxia telangiectasia undergoing elective staging laparoscopy: a case report and literature review

2021 ◽  
Vol 71 (11) ◽  
pp. 2656-2658
Author(s):  
Muhammad Adeel Bashir ◽  
Huma Saleem
Keyword(s):  
Ataxia Telangiectasia ◽  
Autosomal Recessive ◽  
Perioperative Management ◽  
Rare Condition ◽  
Staging Laparoscopy ◽  
Recurrent Infections ◽  
Ataxia Telangiectasia Mutated ◽  
Atm Gene ◽  
Autosomal Recessive Condition ◽  
Insight Into

Ataxia telangiectasia is a rare autosomal recessive condition which develops due to a mutation in the ataxia telangiectasia mutated gene (ATM gene). As a result of this mutation, the ability of the DNA to undergo repair is undermined. The resulting cellular demise is responsible for the diverse presentation of the clinical condition. Neurological symptoms such as cerebellar ataxia, abnormal eye movements and malignancies occur commonly. Immunodeficiency predisposes these patients to recurrent infections. Perioperative management of patients with this rare condition can be associated with increased morbidity. Therefore, it is recommended that patients with ataxia telangiectasia should be managed in a multidisciplinary center, under the supervision of senior clinicians who have the insight into the clinical needs of such patients. We report herein, the perioperative management of a patient with Ataxia telangiectasia undergoing laparoscopic procedure. Continuous....

scholarly journals Rab27a

2001 ◽  
Vol 152 (4) ◽  
pp. 843-850 ◽  
Author(s):  
Philippe Bahadoran ◽  
Edith Aberdam ◽  
Frédéric Mantoux ◽  
Roser Buscà ◽  
Karine Bille ◽  
...  
Keyword(s):  
Immune Deficiency ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Vesicle Transport ◽  
Myosin V ◽  
Griscelli Syndrome ◽  
V Gene ◽  
Rare Autosomal Recessive Disease ◽  
Phenotypic Reversion

Normal pigmentation depends on the uniform distribution of melanin-containing vesicles, the melanosomes, in the epidermis. Griscelli syndrome (GS) is a rare autosomal recessive disease, characterized by an immune deficiency and a partial albinism that has been ascribed to an abnormal melanosome distribution. GS maps to 15q21 and was first associated with mutations in the myosin-V gene. However, it was demonstrated recently that GS can also be caused by a mutation in the Rab27a gene. These observations prompted us to investigate the role of Rab27a in melanosome transport. Using immunofluorescence and immunoelectron microscopy studies, we show that in normal melanocytes Rab27a colocalizes with melanosomes. In melanocytes isolated from a patient with GS, we show an abnormal melanosome distribution and a lack of Rab27a expression. Finally, reexpression of Rab27a in GS melanocytes restored melanosome transport to dendrite tips, leading to a phenotypic reversion of the diseased cells. These results identify Rab27a as a key component of vesicle transport machinery in melanocytes.

scholarly journals Acitretin Treatment for Lipoid Proteinosis

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Özgür Gündüz ◽  
Neriman Şahiner ◽  
Pınar Atasoy ◽  
Çağrı Şenyücel
Keyword(s):  
Respiratory Tract ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Clinical Importance ◽  
Histological Evaluation ◽  
Upper Respiratory Tract ◽  
Cutaneous Lesions ◽  
Lipoid Proteinosis ◽  
Upper Respiratory ◽  
Rare Autosomal Recessive Disease

Lipoid proteinosis (LP) is a rare, autosomal-recessive disease characterized by the hoarseness and widespread cutaneous scarring, more prominent on sun-exposed areas. Yellow-white plaques can be seen on oral mucosa and on the skin among depressed scars. Histological evaluation of the affected sites shows accumulation of hyaline-like material in dermis and disruption of basement membrane. Although LP is compatible with normal life expectancy, involvement of upper respiratory tract may endanger patient's life, especially in the case of a respiratory tract infection. Involvement of central nervous system has also been reported, but its clinical importance is obscure. Due to the rarity of LP, a definite therapeutical approach is not established. In this paper we describe a 21-year-old LP patient who was treated with acitretin for six months. Although the outcome with cutaneous lesions was not satisfactory, her hoarseness was significantly improved.

scholarly journals Mutational Analysis of Oculocutaneous Albinism: A Compact Review

2014 ◽  
Vol 2014 ◽  
pp. 1-10 ◽  
Author(s):  
Balu Kamaraj ◽  
Rituraj Purohit
Keyword(s):  
Autosomal Recessive ◽  
Mutational Analysis ◽  
Autosomal Recessive Disorder ◽  
Oculocutaneous Albinism ◽  
Melanin Production ◽  
Melanin Biosynthesis ◽  
Molecular Features ◽  
New Genes ◽  
Pigment Accumulation ◽  
Severe Type

Oculocutaneous albinism (OCA) is an autosomal recessive disorder caused by either complete lack of or a reduction of melanin biosynthesis in the melanocytes. The OCA1A is the most severe type with a complete lack of melanin production throughout life, while the milder forms OCA1B, OCA2, OCA3, and OCA4 show some pigment accumulation over time. Mutations in TYR, OCA2, TYRP1, and SLC45A2 are mainly responsible for causing oculocutaneous albinism. Recently, two new genes SLC24A5 and C10orf11 are identified that are responsible to cause OCA6 and OCA7, respectively. Also a locus has been mapped to the human chromosome 4q24 region which is responsible for genetic cause of OCA5. In this paper, we summarized the clinical and molecular features of OCA genes. Further, we reviewed the screening of pathological mutations of OCA genes and its molecular mechanism of the protein upon mutation byin silicoapproach. We also reviewed TYR (T373K, N371Y, M370T, and P313R), OCA2 (R305W), TYRP1 (R326H and R356Q) mutations and their structural consequences at molecular level. It is observed that the pathological genetic mutations and their structural and functional significance of OCA genes will aid in development of personalized medicine for albinism patients.

Rapid and Easy Diagnosis of Netherton Syndrome with Dermoscopy

2014 ◽  
Vol 18 (4) ◽  
pp. 280-282 ◽  
Author(s):  
Zeynep Meltem Akkurt ◽  
Tuba Tuncel ◽  
Erhan Ayhan ◽  
Derya Uçmak ◽  
Ünal Uluca ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Hair Shaft ◽  
Netherton Syndrome ◽  
Ichthyosis Linearis Circumflexa ◽  
Rare Autosomal Recessive Disease

Background: Netherton syndrome is a rare autosomal recessive disease demonstrating ichthyosis linearis circumflexa, atopic findings, and hair shaft anomalies. Trichorrhexis invaginata is the pathognomonic hair shaft anomaly seen in this syndrome. Objective: In recent years, hair shaft anomalies have been described as “matchstick” and “golf tee” signs. We present a patient with Netherton syndrome diagnosed by the presence of matchstick and golf tee hairs in addition to trichorrhexis invaginata.

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