Novel AICDA mutation in a case of autosomal recessive hyper-IgM syndrome, growth hormone deficiency and autoimmunity
Allergol. immunopatol
; 45(1): 82-86, ene.-feb. 2017. tab, graf
Artigo
em Inglês
| IBECS
| ID: ibc-158979
Biblioteca responsável:
ES1.1
Localização: BNCS
ABSTRACT
BACKGROUND:
The Hyper-immunoglobulin M syndromes (HIGM) are a heterogeneous group of genetic disorders, which have been rarely reported to be associated with growth hormone deficiency (GHD). METHODS ANDRESULTS:
A nine-year-old girl with recurrent urinary tract infections, diarrhoea, sinopulmonary infections, and failure to thrive since the age of six months had normal CD3+, CD4+, CD8 + T lymphocytes, and CD19 + B lymphocytes and natural killer (NK) cells, but extremely elevated IgM and significantly decreased IgG and IgA. In view of the patient's short stature, growth hormone evaluation was carried out and growth hormone deficiency established. The patient underwent Ig replacement therapy and received growth hormone therapy in addition to antibiotics and responded well. Furthermore, the patient developed benign cervical lymphadenopathy, as well as elevated erythrocyte sedimentation rate, positive autoantibodies to SSA-Ro, and severely dry eyes, which partially responded to both the punctate occlusion and systemic corticosteroids, at the age of seven years. Sequencing analysis of the exons from activation-induced cytidine deaminase (AICDA) gene revealed that the patient was homozygous for a single T to C transversion at position 455 in exon 4, which replaces a Valine with an Alanine.CONCLUSIONS:
To our knowledge, this is a new AICDA mutation, which has not been reported previously in HIGM. The mutation analysis could improve diagnosis of HIGM patients and also elaborating on the spectrum of AICDA mutationsRESUMEN
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Coleções:
Bases de dados nacionais
/
Espanha
Contexto em Saúde:
Doenças Negligenciadas
Problema de saúde:
Diarreia
Base de dados:
IBECS
Assunto principal:
Hormônio do Crescimento Humano
/
Síndrome de Imunodeficiência com Hiper-IgM
Limite:
Criança
/
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Allergol. immunopatol
Ano de publicação:
2017
Tipo de documento:
Artigo
Instituição/País de afiliação:
CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences/Austria
/
Medical University of Vienna/Austria
/
Shiraz University of Medical Sciences/Iran
/
Tehran University of Medical Sciences/Iran
/
Universal Scientific Education and Research Network (USERN)/Iran