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Exploring the landscape of congenital and idiopathic neutropenia in Moroccan children: a comprehensive retrospective analysis.
Immunol Res
January 2025
Laboratory of Clinical Immunology, Infectiology, and Autoimmunity (LICIA), Faculty of Medicine and Pharmacy of Casablanca, Hassan II University, Casablanca, Morocco.
Congenital neutropenia (CoN) is a heterogeneous group of inborn errors of immunity (IEI) characterized by recurrent infections and early onset of neutropenia (NP). This study aimed to investigate the demographic and clinical data of children with CoN and idiopathic neutropenia (IN) in Morocco. We performed a retrospective study of patients with CoN and analyzed the clinical and laboratory findings of patients with CoN and IN diagnosed between 1999 and 2018 in a clinical immunology unit of a large pediatric hospital.
View Article and Find Full Text PDFRole of Morphology in the Diagnosis of an Unsuspected Case of Chediak-Higashi Syndrome: A Case Report.
Cureus
December 2024
Department of Pathology, Ranga Raya Medical College, Kakinada, IND.
Chediak-Higashi syndrome (CHS) is a rare multisystem genetic disorder of childhood, caused by a defect in vesicular trafficking, which is an essential process for intracellular transport. This defect results in the formation of giant cytoplasmic granules in various cell types, including white blood cells, melanosomes, and Schwann cells. The presence of giant lysosomal granules in neutrophils and their precursors is a distinct and diagnostic feature of CHS, differentiating it from other childhood immunodeficiency disorders, such as Griscelli syndrome and Hermansky-Pudlak syndrome, which share common characteristics like albinism and increased susceptibility to fatal hemophagocytic lymphohistiocytosis.
View Article and Find Full Text PDFPulmonary Failure as Presentation of Griscelli Syndrome Type 2.
Pediatr Pulmonol
December 2024
Department of Pediatrics and Adolescents Medicine, AUH, Danish Center of Pediatric Pulmonology and Allergology, Aarhus, Denmark.
Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency.
J Clin Immunol
November 2024
Paediatric Immunology Department, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, UK.
Griscelli syndrome type 2 (GS2) is a rare, life-threatening immunodysregulatory disorder characterised by impaired cytotoxic activity leading to susceptibility to haemophagocytic lymphohistiocytosis (HLH) and hypopigmentation. We completed a literature review and analysis of clinical data of 149 patients with GS2 including 8 new patients.We identified three founder mutations which show diverse phenotypic profiles (RAB27A c.
View Article and Find Full Text PDFEarly diagnosis of immunodeficient patients with partial albinism: The role of hair study and peripheral blood smear.
Pediatr Allergy Immunol
November 2024
Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
Article Synopsis
- Primary immunodeficiency diseases with partial albinism, such as Chediak Higashi Syndrome (CHS) and Griscelli Syndrome type 2 (GS2), are autosomal recessive disorders characterized by immune deficiencies and abnormal pigmentation.
- The study evaluated 25 patients over the past decade, using genetic analyses and examinations of leukocyte granules and hair shafts to identify these conditions, along with control groups of patients with albinism and healthy individuals.
- The findings indicated specific genetic variants associated with CHS and HPS2, highlighting the importance of timely hematopoietic stem cell transplantation and genetic testing for accurate diagnosis and management of these syndromes.
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