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Literature DB >> 24477949

X-Linked agammaglobulinemia in a child with Klinefelter's syndrome.

Alexis-Virgil Cochino¹, Ales Janda, Barbora Ravcukova, Vasilica Plaiasu, Diana Ochiana, Ioan Gherghina, Tomas Freiberger.

Abstract

Bruton's agammaglobulinemia is a rare X-linked humoral immunodeficiency manifesting with recurrent bacterial infections early in life. Klinefelter's syndrome caused by an additional X chromosome is the most common sex chromosome disorder. A previously unreported association of these two conditions is described here.

Entities: Disease Species

Mesh：

Substances：

Year: 2014 PMID： 24477949 DOI： 10.1007/s10875-013-9986-y

Source DB: PubMed Journal: J Clin Immunol ISSN： 0271-9142 Impact factor: 8.317

28 in total

1. The parental origin of 47,XXY males.

Authors: J Harvey; P A Jacobs; T Hassold; D Pettay
Journal: Birth Defects Orig Artic Ser Date: 1990

2. British Thoracic Society guidelines for the management of community acquired pneumonia in children: update 2011.

Authors: Michael Harris; Julia Clark; Nicky Coote; Penny Fletcher; Anthony Harnden; Michael McKean; Anne Thomson
Journal: Thorax Date: 2011-10 Impact factor: 9.139

3. Identification of novel Bruton's tyrosine kinase mutations in 10 unrelated subjects with X linked agammaglobulinaemia.

Authors: R A Brooimans; A J van den Berg; G T Rijkers; L A Sanders; J K van Amstel; M G Tilanus; M J Grubben; B J Zegers
Journal: J Med Genet Date: 1997-06 Impact factor: 6.318

4. Klinefelter's syndrome and pulmonary disease.

Authors: J J Daly; H Hunter; D F Rickards
Journal: Am Rev Respir Dis Date: 1968-10

Review 5. Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update.

Authors: E de Vries
Journal: Clin Exp Immunol Date: 2012-01 Impact factor: 4.330

6. X-linked agammaglobulinemia in community-acquired pneumonia cases revealed by immunoglobulin level screening at hospital admission.

Authors: Z Vancikova; T Freiberger; W Vach; M Trojanek; M Rizzi; A Janda
Journal: Klin Padiatr Date: 2013-10-24 Impact factor: 1.349

1. Novel biallelic ATM mutations coexist with a mosaic form of triple X syndrome in an 11-year-old girl at remission after T cell acute leukemia.

Authors: Svetlana O Sharapova; Alena V Valochnik; Irina E Guryanova; Inga S Sakovich; Olga V Aleinikova
Journal: Immunogenetics Date: 2018-02-28 Impact factor: 2.846

1 in total

X-Linked agammaglobulinemia in a child with Klinefelter's syndrome.

1. The parental origin of 47,XXY males.

2. British Thoracic Society guidelines for the management of community acquired pneumonia in children: update 2011.

3. Identification of novel Bruton's tyrosine kinase mutations in 10 unrelated subjects with X linked agammaglobulinaemia.

4. Klinefelter's syndrome and pulmonary disease.

Review 5. Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update.

6. X-linked agammaglobulinemia in community-acquired pneumonia cases revealed by immunoglobulin level screening at hospital admission.

Review 7. The X chromosome in immune functions: when a chromosome makes the difference.

Review 8. Clinical and hormonal status of infants with nonmosaic XXY karyotype.

Review 9. Chromosomal variants in klinefelter syndrome.

10. Application of carrier testing to genetic counseling for X-linked agammaglobulinemia.

1. Novel biallelic ATM mutations coexist with a mosaic form of triple X syndrome in an 11-year-old girl at remission after T cell acute leukemia.