X-linked hyper-IgM syndrome with CD40LG mutation: two case reports and literature review in Taiwanese patients.
J Microbiol Immunol Infect
; 48(1): 113-8, 2015 Feb.
Article
em En
| MEDLINE
| ID: mdl-23010537
ABSTRACT
Hyper-IgM syndrome (HIGM) is a rare primary immunodeficiency disorder characterized by elevated or normal serum IgM and decreased IgG, IgA, and IgE due to defective immunoglobulin class switching. X-linked HIGM (XHIGM, HIGM1) is the most frequent type, is caused by mutations in the CD40 ligand gene, and is regarded as a combined T and B immunodeficiency. We report an 18-year-old male who was diagnosed initially with hypogammaglobulinemia in infancy, but developed repeated pneumonia, sepsis, cellulitis, perianal abscess, pericarditis, and bronchiectasis despite regular intravenous immunoglobulin replacement therapy. The patient died at age 18 years due to pneumonia and tension pneumothorax. Mutation analysis revealed CD40L gene mutation within Exon 5 at nucleotide position 476 (cDNA 476G > A). This nonsense mutation predicted a tryptophan codon (TGG) change to a stop codon (TGA) at position 140 (W140X), preventing CD40L protein expression. Sequence analysis in the family confirmed a de novo mutation. The second case of 6-month-old male infant presented as Pneumocystis jiroveci pneumonia and acute respiratory distress syndrome. Gene analysis of the CD40L gene revealed G to C substitution in Intron 4 (c.409 + 5G > C) and mother was a carrier. Hematopoietic stem cell transplantation, the only cure for XHIGM, was arranged in the second case.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Infecções Oportunistas
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Hospedeiro Imunocomprometido
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Mutação Puntual
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Ligante de CD40
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Síndrome de Imunodeficiência com Hiper-IgM Tipo 1
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
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Humans
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Infant
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Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
J Microbiol Immunol Infect
Ano de publicação:
2015
Tipo de documento:
Article