Chediak Higashi syndrome with acute kidney injury: Questions
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric Nephrology"
DOI: 10.1007/s00467-021-05404-1
Abstract: A 9-month-old male infant, first child of a third-degree consanguineous marriage, was admitted to our center with history of recurrent high-grade fever since 5 months of age for which he had been admitted and treated… read more here.
Keywords: chediak higashi; grade fever; acute kidney; higashi syndrome ... See more keywords
Chediak-Higashi syndrome: Lessons from a single-centre case series.
Sign Up to like & getrecommendations! Published in 2019 at "Allergologia et immunopathologia"
DOI: 10.1016/j.aller.2019.04.010
Abstract: BACKGROUND Chediak-Higashi syndrome (CHS) is a rare and potentially fatal autosomal recessive disease characterized by frequent bacterial infections, bleeding tendency, oculocutaneous albinism, photosensitivity and progressive neurologic dysfunction. Owing to the rarity of this condition, the… read more here.
Keywords: higashi syndrome; diagnosis; years years; median age ... See more keywords
Haploidentical Stem Cell Transplant With Post-transplant Cyclophosphamide for Chediak-Higashi Syndrome: A Very Rare Case Report
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000001977
Abstract: Chediak-Higashi syndrome is a rare immunodeficiency disorder for which hematopoietic stem cell transplant (HSCT) is the only curative treatment option. HSCT only corrects the hematologic and immunologic manifestations of the disease but neurologic complications may… read more here.
Keywords: transplant; higashi syndrome; transplant cyclophosphamide; post transplant ... See more keywords
Perianal tuberculosis in an immunocompetent patient
Sign Up to like & getrecommendations! Published in 2018 at "Journal of the European Academy of Dermatology and Venereology"
DOI: 10.1111/jdv.14757
Abstract: an African-American child with Chediak-Higashi syndrome. Case Rep Med 2010; 2010: 967535. 5 Introne WJ, Westbroek W, Golas GA et al. Chediak-Higashi syndrome, 2009 [Updated 2015 Jan 15]. In Adam MP, Ardinger HH, Pagon RA,… read more here.
Keywords: tuberculosis immunocompetent; higashi syndrome; immunocompetent patient; perianal tuberculosis ... See more keywords
BEACHcombing for α-granules.
Sign Up to like & getrecommendations! Published in 2018 at "Blood"
DOI: 10.1182/blood-2017-12-820274
Abstract: GPS (MIM 139090) is an autosomal recessive disorder associated with macrothrombocytopenia, splenomegaly, myelofibrosis, heterogeneous bleeding, and defective platelet a-granules.2 The gene mutated inGPS encodes the neurobeachinlike 2 (Nbeal2) protein, which is 1 of 9 Beige… read more here.
Keywords: beachcombing granules; chediak higashi;
Functional analysis of the BEige and Chediak-Higashi domain gene MpSPIRRIG in Marchantia polymorpha
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Plant Science"
DOI: 10.3389/fpls.2022.915268
Abstract: BEige and Chediak–Higashi domain containing proteins (BDCPs) have been described to function in membrane-dependent processes in eukaryotes. This role was also observed for the BDCP SPIRRIG (SPI) in the model plant Arabidopsis thaliana in the… read more here.
Keywords: chediak higashi; marchantia polymorpha; higashi domain; beige chediak ... See more keywords
Chediak–Higashi syndrome presented with hemophagocytic lymphohistiocytosis
Sign Up to like & getrecommendations! Published in 2018 at "Indian Journal of Medical and Paediatric Oncology"
DOI: 10.4103/ijmpo.ijmpo_54_16
Abstract: © 2018 Indian Journal of Medical and Paediatric Oncology | Published by Wolters Kluwer Medknow Sir, Herein, we report a case of Chediak–Higashi syndrome (CHS) presented with hemophagocytic lymphohistiocytosis (HLH). A 3‐year‐old girl presented with… read more here.
Keywords: higashi syndrome; presented hemophagocytic; hemophagocytic lymphohistiocytosis; oncology ... See more keywords
Rare Pseudo-Chediak-Higashi Inclusions in Therapy-Related Acute Myeloid Leukemia with Myelodysplasia-Related Changes.
Sign Up to like & getrecommendations! Published in 2023 at "Clinical laboratory"
DOI: 10.7754/clin.lab.2022.220910
Abstract: 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… read more here.
Keywords: rare pseudo; chediak higashi; pseudo chediak; higashi inclusions ... See more keywords