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Chediak-Higashi syndrome, childhood type

MedGen UID:
865429
•Concept ID:
C4016992
•
Finding
Synonym: CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE
 
OMIM®: 606897

Professional guidelines

PubMed

Treatment of the X-linked lymphoproliferative, Griscelli and Chédiak-Higashi syndromes by HLH directed therapy.
Trottestam H, Beutel K, Meeths M, Carlsen N, Heilmann C, Pasić S, Webb D, Hasle H, Henter JI
Pediatr Blood Cancer 2009 Feb;52(2):268-72. doi: 10.1002/pbc.21790. PMID: 18937330

Recent clinical studies

Etiology

Chedíak-Higashi Syndrome: Hair-to-toe spectrum.
Greene S, Soldatos A, Toro C, Zein WM, Snow J, Lehky TJ, Malicdan MCV, Introne WJ
Semin Pediatr Neurol 2024 Dec;52:101168. Epub 2024 Nov 8 doi: 10.1016/j.spen.2024.101168. PMID: 39622608Free PMC Article
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Cognitive and psychosocial function post hematopoietic stem cell transplantation in children with hemophagocytic lymphohistiocytosis.
Jackson J, Titman P, Butler S, Bond K, Rao A, Veys P, Chiesa R, Leiper A, Riley L, Gilmour K, Amrolia P, Rao K
J Allergy Clin Immunol 2013 Oct;132(4):889-95.e1-3. Epub 2013 Aug 26 doi: 10.1016/j.jaci.2013.05.046. PMID: 23987797
Treatment of the X-linked lymphoproliferative, Griscelli and Chédiak-Higashi syndromes by HLH directed therapy.
Trottestam H, Beutel K, Meeths M, Carlsen N, Heilmann C, Pasić S, Webb D, Hasle H, Henter JI
Pediatr Blood Cancer 2009 Feb;52(2):268-72. doi: 10.1002/pbc.21790. PMID: 18937330
Abnormal bactericidal, metabolic, and lysosomal functions of Chediak-Higashi Syndrome leukocytes.
Root RK, Rosenthal AS, Balestra DJ
J Clin Invest 1972 Mar;51(3):649-65. doi: 10.1172/JCI106854. PMID: 4400956Free PMC Article

Diagnosis

Chedíak-Higashi Syndrome: Hair-to-toe spectrum.
Greene S, Soldatos A, Toro C, Zein WM, Snow J, Lehky TJ, Malicdan MCV, Introne WJ
Semin Pediatr Neurol 2024 Dec;52:101168. Epub 2024 Nov 8 doi: 10.1016/j.spen.2024.101168. PMID: 39622608Free PMC Article
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism.
Dotta L, Parolini S, Prandini A, Tabellini G, Antolini M, Kingsmore SF, Badolato R
Orphanet J Rare Dis 2013 Oct 17;8:168. doi: 10.1186/1750-1172-8-168. PMID: 24134793Free PMC Article
Cognitive and psychosocial function post hematopoietic stem cell transplantation in children with hemophagocytic lymphohistiocytosis.
Jackson J, Titman P, Butler S, Bond K, Rao A, Veys P, Chiesa R, Leiper A, Riley L, Gilmour K, Amrolia P, Rao K
J Allergy Clin Immunol 2013 Oct;132(4):889-95.e1-3. Epub 2013 Aug 26 doi: 10.1016/j.jaci.2013.05.046. PMID: 23987797
Griscelli syndrome.
Emanuel PO, Sternberg LJ, Phelps RG
Skinmed 2007 May-Jun;6(3):147-9. doi: 10.1111/j.1540-9740.2007.05783.x. PMID: 17483661

Therapy

Cognitive and psychosocial function post hematopoietic stem cell transplantation in children with hemophagocytic lymphohistiocytosis.
Jackson J, Titman P, Butler S, Bond K, Rao A, Veys P, Chiesa R, Leiper A, Riley L, Gilmour K, Amrolia P, Rao K
J Allergy Clin Immunol 2013 Oct;132(4):889-95.e1-3. Epub 2013 Aug 26 doi: 10.1016/j.jaci.2013.05.046. PMID: 23987797

Prognosis

Chedíak-Higashi Syndrome: Hair-to-toe spectrum.
Greene S, Soldatos A, Toro C, Zein WM, Snow J, Lehky TJ, Malicdan MCV, Introne WJ
Semin Pediatr Neurol 2024 Dec;52:101168. Epub 2024 Nov 8 doi: 10.1016/j.spen.2024.101168. PMID: 39622608Free PMC Article
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Treatment of the X-linked lymphoproliferative, Griscelli and Chédiak-Higashi syndromes by HLH directed therapy.
Trottestam H, Beutel K, Meeths M, Carlsen N, Heilmann C, Pasić S, Webb D, Hasle H, Henter JI
Pediatr Blood Cancer 2009 Feb;52(2):268-72. doi: 10.1002/pbc.21790. PMID: 18937330
Griscelli syndrome.
Emanuel PO, Sternberg LJ, Phelps RG
Skinmed 2007 May-Jun;6(3):147-9. doi: 10.1111/j.1540-9740.2007.05783.x. PMID: 17483661

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