Concepedia

Identification of anSH2D1A mutation in a hypogammaglobulinemic male patient with a diagnosis of common variable immunodeficiency

Asghar Aghamohammadi, Hirokazu Kanegane, Mostafa Moein, Abolhasan Farhoudi, Zahra Pourpak, Masoud Movahedi, Mohammad Gharagozlou, Ali Akabar Amir Zargar, Toshio Miyawaki

International Journal of Hematology · 2003 · 32 citations · 24 references

DOI

Concepts

References

24

Bone marrow transplant

The Medical Journal of Australia · 1999 · 3.4K citations

Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2)

Patrick Revy, Taro Muto, Yves Lévy et al. · Cell · 2000 · 1.6K citations · Full text

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Common Variable Immunodeficiency: Clinical and Immunological Features of 248 Patients

Charlotte Cunningham‐Rundles, Carol Bodian · Clinical Immunology · 1999 · 1.5K citations

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The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM

Joan Sayós, Chengbin Wu, M. Morra et al. · Nature · 1998 · 942 citations

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Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene

Alison J. Coffey, Robert A. Brooksbank, Oliver Brandau et al. · Nature Genetics · 1998 · 759 citations

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