Regional Enteritis Associated with Enterovirus in a Patient with X-Linked Agammaglobulinemia [PDF]
Christophe Cellier+2 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
Stability and peptide binding specificity of Btk SH2 domain: Molecular basis for X‐linked agammaglobulinemia [PDF]
Shiou‐Ru Tzeng+10 more
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Molecular studies of X-linked agammaglobulinemia
published_or_final_version ; Paediatrics ; Master ; Master of ...
openaire +3 more sources
BTK mutations in patients with X-linked agammaglobulinemia: Lack of correlation between presence of peripheral B lymphocytes and specific mutations Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief #377 (2000) Online http://journals.wiley.com/1059-7794/pdf/mutation/377.pdf [PDF]
Tao Luan+4 more
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Composition of Precursor B-Cell Compartment in Bone Marrow from Patients with X-Linked Agammaglobulinemia Compared with Healthy Children [PDF]
Jeroen G. Noordzij+6 more
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Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia [PDF]
Sergio Massayuki Tani+6 more
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A novel mutation leading to a deletion in the SH3 domain of Bruton's tyrosine kinase
X-linked agammaglobulinemia (XLA) is a primary B cell immunodeficiency disorder, caused by a defect in the Bruton tyrosine kinase (BTK) gene. Here, we describe a novel four base pair mutation (838delGAGT) in intron 9 of the BTK gene leading to the
Lütfiye Mesci+5 more
doaj
Drug reaction to ceftriaxone in a child with X-linked agammaglobulinemia [PDF]
Vandana Kudva-Patel+4 more
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X-Linked Agammaglobulinemia Leading to Chronic Obstructive Lung Disease. [PDF]
Bean P, Jani P.
europepmc +1 more source