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Hyper-IgE syndrome with STAT3 mutation: a case report in Mainland China.

Xie L, Hu X, Li Y, Zhang W, Chen L - Clin. Dev. Immunol. (2010)

Bottom Line: Hyper-immunoglobulin E syndromes (HIES) including compound primary immunodeficiency and nonimmunological abnormalities are characterized by extremely high serum IgE levels, eosinophilia, eczema, susceptibility to infections, distinctive facial appearance, retention of deciduous teeth, cyst-forming pneumonias, and skeletal abnormalities.Itis reported that some cases of familial HIES are relative to autosomal dominant or recessive inheritance, but most cases are sporadic, and result from mutations in the human signal transducer and activator of transcription 3 (STAT3) gene.In this paper, we firstly report a young man diagnosed of Hyper-IgE syndrome with STAT3 mutation in Mainland China, and investigate the autosomal dominant trait of his family members.

View Article: PubMed Central - PubMed

Affiliation: Department of Respiratory Medicine, Chinese PLA General Hospital, 28th Fuxing Road, Beijing 100853, China.

ABSTRACT
Hyper-immunoglobulin E syndromes (HIES) including compound primary immunodeficiency and nonimmunological abnormalities are characterized by extremely high serum IgE levels, eosinophilia, eczema, susceptibility to infections, distinctive facial appearance, retention of deciduous teeth, cyst-forming pneumonias, and skeletal abnormalities. Itis reported that some cases of familial HIES are relative to autosomal dominant or recessive inheritance, but most cases are sporadic, and result from mutations in the human signal transducer and activator of transcription 3 (STAT3) gene. In this paper, we firstly report a young man diagnosed of Hyper-IgE syndrome with STAT3 mutation in Mainland China, and investigate the autosomal dominant trait of his family members.

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Related in: MedlinePlus

Pyrosequencing results (a) 38.9% C and 61.1% A at the mutational point of the patient. (b)–(d) 100.0% A and 0.0% C at the corresponding point of his parents and sister.
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fig4: Pyrosequencing results (a) 38.9% C and 61.1% A at the mutational point of the patient. (b)–(d) 100.0% A and 0.0% C at the corresponding point of his parents and sister.

Mentions: To study this mutated allele expression more directly, we quantified the relative expression of alleles in leucocyte from whole blood samples of the patient and his families control using the 1310A → C SNPs located in the Exon 15 of STAT3 gene. cDNA sequences from patient samples revealed expression of both alleles (38.9% C and 61.1% A through the exactly calculation) indicating the mutated transcription of STAT3 gene present in the patient. The association between the expression levels implies that the 1310A → C SNPs is the causative mutation for this dominant case (Figure 4).


Hyper-IgE syndrome with STAT3 mutation: a case report in Mainland China.

Xie L, Hu X, Li Y, Zhang W, Chen L - Clin. Dev. Immunol. (2010)

Pyrosequencing results (a) 38.9% C and 61.1% A at the mutational point of the patient. (b)–(d) 100.0% A and 0.0% C at the corresponding point of his parents and sister.
© Copyright Policy - open-access
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC2871547&req=5

fig4: Pyrosequencing results (a) 38.9% C and 61.1% A at the mutational point of the patient. (b)–(d) 100.0% A and 0.0% C at the corresponding point of his parents and sister.
Mentions: To study this mutated allele expression more directly, we quantified the relative expression of alleles in leucocyte from whole blood samples of the patient and his families control using the 1310A → C SNPs located in the Exon 15 of STAT3 gene. cDNA sequences from patient samples revealed expression of both alleles (38.9% C and 61.1% A through the exactly calculation) indicating the mutated transcription of STAT3 gene present in the patient. The association between the expression levels implies that the 1310A → C SNPs is the causative mutation for this dominant case (Figure 4).

Bottom Line: Hyper-immunoglobulin E syndromes (HIES) including compound primary immunodeficiency and nonimmunological abnormalities are characterized by extremely high serum IgE levels, eosinophilia, eczema, susceptibility to infections, distinctive facial appearance, retention of deciduous teeth, cyst-forming pneumonias, and skeletal abnormalities.Itis reported that some cases of familial HIES are relative to autosomal dominant or recessive inheritance, but most cases are sporadic, and result from mutations in the human signal transducer and activator of transcription 3 (STAT3) gene.In this paper, we firstly report a young man diagnosed of Hyper-IgE syndrome with STAT3 mutation in Mainland China, and investigate the autosomal dominant trait of his family members.

View Article: PubMed Central - PubMed

Affiliation: Department of Respiratory Medicine, Chinese PLA General Hospital, 28th Fuxing Road, Beijing 100853, China.

ABSTRACT
Hyper-immunoglobulin E syndromes (HIES) including compound primary immunodeficiency and nonimmunological abnormalities are characterized by extremely high serum IgE levels, eosinophilia, eczema, susceptibility to infections, distinctive facial appearance, retention of deciduous teeth, cyst-forming pneumonias, and skeletal abnormalities. Itis reported that some cases of familial HIES are relative to autosomal dominant or recessive inheritance, but most cases are sporadic, and result from mutations in the human signal transducer and activator of transcription 3 (STAT3) gene. In this paper, we firstly report a young man diagnosed of Hyper-IgE syndrome with STAT3 mutation in Mainland China, and investigate the autosomal dominant trait of his family members.

Show MeSH
Related in: MedlinePlus