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
Chédiak-Higashi syndrome with novel gene mutation
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DOI: 10.1136/bcr-2016-216628
Abstract: Chédiak-Higashi syndrome (CHS) is a rare disorder of immune deficiency with autosomal recessive inheritance. Over the past 20 years, ∼500 cases were published worldwide. The mean age of onset is 5–6 years. We report here a case… read more here.
Keywords: syndrome novel; higashi syndrome; case; gene ... 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