Clinical, immunological and molecular profiles of DOCK8 deficiency in six patients from a tertiary care centre in North India.
Clin Exp Dermatol
; 49(3): 226-234, 2024 Feb 14.
Article
em En
| MEDLINE
| ID: mdl-37815217
ABSTRACT
BACKGROUND:
Dedicator of cytokinesis protein 8 (DOCK8) deficiency is an autosomal recessive form of combined immunodeficiency. This rare disorder is characterized by an increased predisposition to allergy, autoimmunity and malignancies.OBJECTIVES:
To analyse clinical, immunological and molecular profiles of patients with DOCK8 deficiency.METHODS:
Clinic records of all patients attending the primary immunodeficiency clinic from 2018 to 2021 were reviewed. Six patients from five families were found to have DOCK8 deficiency.RESULTS:
Median age at diagnosis was 7.5â years (range 2-13), with a male/female ratio of 5 1. Among the six patients, recurrent eczematous skin lesions were the predominant cutaneous manifestation, present in five patients (83%). Warts and molluscum contagiosum were evident in two patients (33%) and one patient (16%), respectively. Two patients had recalcitrant prurigo nodularis lesions and two had epidermodysplasia verruciformis-like lesions. Food allergies and asthma were reported by one patient each. Of the six patients, recurrent sinopulmonary infections were detected in five (83%). Epstein-Barr virus-driven non-Hodgkin lymphoma with liver metastases was the only case of malignancy, in a 4-year-old boy. IgE was elevated in all patients. Lymphopenia and eosinophilia were observed in three patients (50%) and five patients (83.3%), respectively. Genetic analysis showed DOCK8 pathogenic variants in all patients homozygous deletion mutations in two patients, compound heterozygous deletion mutations in one, and homozygous nonsense mutations in two. A novel pathogenic homozygous missense variant in the DOCK8 gene was identified in one patient.CONCLUSIONS:
DOCK8 deficiency should be considered as a possibility in any patient with early onset eczema, cutaneous viral infections and increased predisposition to allergy, autoimmunity and malignancy.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Infecções por Vírus Epstein-Barr
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Eczema
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Hipersensibilidade
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Síndrome de Job
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Neoplasias
Limite:
Adolescent
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Child
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Child, preschool
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Female
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Humans
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Male
Idioma:
En
Revista:
Clin Exp Dermatol
Ano de publicação:
2024
Tipo de documento:
Article