Splice-correcting oligonucleotides restore BTK function in X-linked agammaglobulinemia model [PDF]
Burcu Bestas +20 more
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Correction to: Helicobacter cinaedi-Associated Refractory Cellulitis in Patients with X-Linked Agammaglobulinemia [PDF]
Kento Inoue +6 more
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Primary immunodeficiencies (PID) such as severe combined immunodeficiency (SCID) and X-linked agammaglobulinemia are characterized by the lack of functional Tand B-cells, respectively. Without early diagnosis and prompt treatment children with PID suffer
M. A. Gordukova +10 more
doaj +1 more source
Novel mutations in hyper‐IgM syndrome type 2 and X‐linked agammaglobulinemia detected in three patients with primary immunodeficiency disease [PDF]
Xihui Chen +5 more
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Predominantly antibody deficiencies are a category of primary immunodeficiency diseases, which consist of several rare disorders such as common variable immunodeficiency (CVID) and X-linked agammaglobulinemia (XLA).
Maryam Nourizadeh +5 more
doaj
Delayed diagnosis of X-linked agammaglobulinaemia in a boy with recurrent meningitis
Background X-linked agammaglobulinaemia (XLA) is a rare inherited primary immunodeficiency disease characterized by the B cell developmental defect, caused by mutations in the gene coding for Bruton’s tyrosine kinase (BTK), which may cause serious ...
Ya-Ni Zhang +7 more
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Dried Blood Spots, an Affordable Tool to Collect, Ship, and Sequence gDNA from Patients with an X-Linked Agammaglobulinemia Phenotype Residing in a Developing Country [PDF]
Gesmar Rodrigues Silva Segundo +8 more
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Bruton tyrosine kinase (BTK) in X-linked agammaglobulinemia (XLA) [PDF]
Mauno Vihinen
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Evolving Practice: X-Linked Agammaglobulinemia and Lung Transplantation [PDF]
S. Barnes +7 more
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Clinical and Genetic Profile of X-Linked Agammaglobulinemia: A Multicenter Experience From India [PDF]
Amit Rawat +41 more
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