Buscar en
Allergologia et Immunopathologia
Toda la web
Inicio Allergologia et Immunopathologia Chediak–Higashi syndrome: Lessons from a single-centre case series
Journal Information
Vol. 47. Issue 6.
Pages 598-603 (November - December 2019)
Download PDF
More article options
Vol. 47. Issue 6.
Pages 598-603 (November - December 2019)
DOI: 10.1016/j.aller.2019.04.010
Chediak–Higashi syndrome: Lessons from a single-centre case series
I. Marques Carneiroa,
Corresponding author

Corresponding author.
, A. Rodriguesb, L. Pinhoc, C. de Jesus Nunes-Santosd, M. de Barros Dornad, A.P.B. Moschione Castrod, A.C. Pastorinod
a Department of Pediatrics Hospital Santa Maria (CHULN), Lisbon Academic Medical Centre, Av. Professor Egas Moniz, 1649-035, Lisbon, Portugal
b Department of Pediatrics, Hospital Dr. Nélio Mendonça, Madeira, Portugal
c Department of Neonatology and Pediatric Intensive Care, Centro Materno-Infantil do Norte - Centro Hospitalar do Porto, Porto, Portugal
d Department of Pediatrics, Faculdade de Medicina da Universidade de São Paulo, Brazil
Article information
Full Text
Download PDF
Figures (2)
Tables (2)
Table 1. Demographic and clinical data.
Table 2. Clinical evolution and outcome.
Show moreShow less

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 objective of this study was to describe patients with CHS.


Retrospective evaluation of patients followed in a paediatric tertiary centre of Allergy and Immunology of São Paulo, Brazil, between 1986 and 2018 with a confirmed diagnosis of CHS. Data were obtained from medical records. Demographic aspects, family history, clinical findings, laboratory data, diagnosis, treatment and outcome were described.


A total of 14 patients (five male) were included. Clinical manifestations were first recognized at a median age of two months (at birth-20 months). Median age at diagnosis was 1.7 years (0–5 years). All patients had recurrent infections. Albinism was present in 13 patients and silvery or light hair was present in 14. Seven patients developed hemophagocytic lymphohistiocytosis (HLH); the median age at the diagnosis of HLH was 5.7 years (2.6–6.7 years) and the median interval between the diagnosis of CHS and HLH was 3.3 years (0–5 years). Four of the most recently diagnosed patients underwent bone marrow transplantation (BMT). Nine patients are deceased, and one was lost to follow-up. The median age of death was 6.7 years (3.8–22 years). Five patients died of HLH, one of lymphoma, and three of infection. All the patients who had HLH before the year of 2000 died of HLH. The two most recently diagnosed patients with HLH were able to cure the HLH, although they died of other causes. Four patients are alive, three of them after successful BMT.


Thirty years of follow up showed an improvement in the prognosis in patients with CHS. The better understanding of the underlying biological mechanisms of HLH allowed the standardization of management protocols, resulting in survival improvement. BMT is the only treatment that can change CHS prognosis, which emphasizes the need for early identification of the disease.

Chediak–Higashi syndrome
Lymphohistiocytosis, Hemophagocytic


These are the options to access the full texts of the publication Allergologia et Immunopathologia

If you already have your login data, please click here .

If you have forgotten your password you can you can recover it by clicking here and selecting the option “I have forgotten my password”
Subscribe to

Allergologia et Immunopathologia

Comprar acceso al artículo

Comprando el artículo el PDF del mismo podrá ser descargado

Precio 22,50 €

Comprar ahora
Phone for subscriptions and reporting of errors
From Monday to Friday from 9 a.m. to 6 p.m. (GMT + 1) except for the months of July and August which will be from 9 a.m. to 3 p.m.
Calls from Spain
932 415 960
Calls from outside Spain
+34 932 415 960
Article options
es en pt

¿Es usted profesional sanitario apto para prescribir o dispensar medicamentos?

Are you a health professional able to prescribe or dispense drugs?

Você é um profissional de saúde habilitado a prescrever ou dispensar medicamentos

es en pt
Política de cookies Cookies policy Política de cookies
Utilizamos cookies propias y de terceros para mejorar nuestros servicios y mostrarle publicidad relacionada con sus preferencias mediante el análisis de sus hábitos de navegación. Si continua navegando, consideramos que acepta su uso. Puede cambiar la configuración u obtener más información aquí. To improve our services and products, we use "cookies" (own or third parties authorized) to show advertising related to client preferences through the analyses of navigation customer behavior. Continuing navigation will be considered as acceptance of this use. You can change the settings or obtain more information by clicking here. Utilizamos cookies próprios e de terceiros para melhorar nossos serviços e mostrar publicidade relacionada às suas preferências, analisando seus hábitos de navegação. Se continuar a navegar, consideramos que aceita o seu uso. Você pode alterar a configuração ou obter mais informações aqui.