Novel mutations in hyper‐IgM syndrome type 2 and X‐linked agammaglobulinemia detected in three patients with primary immunodeficiency disease

Author:

Chen Xihui1ORCID,Liu Fangfang2,Yuan Lijuan13,Zhang Meng1,Chen Kun4,Wu Yuanming1

Affiliation:

1. Department of Biochemistry and Molecular Biology The Fourth Military Medical University Xi’an China

2. Institute of Neurosciences The Fourth Military Medical University Xi'an, Shaanxi China

3. Department of General Surgery Tangdu HospitalThe Fourth Military Medical University Xi’an China

4. Department of Anatomy, Histology and Embryology and K.K. Leung Brain Research Centre The Fourth Military Medical University Xi'an China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Reference29 articles.

1. X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations

2. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency;Al‐Herz W.;Frontiers in Immunology,2014

3. Primary immunodeficiency diseases. Report of a WHO scientific group;Anon;Clinical and Experimental Immunology,1997

4. Bruton's Tyrosine Kinase Links the B Cell Receptor to Nuclear Factor κb Activation

5. Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia

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