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Case Reports
. 2021 May;41(4):825-828.
doi: 10.1007/s10875-020-00962-9. Epub 2021 Jan 27.

X-Linked Agammaglobulinemia Case with TH Domain Missense Mutation in Bruton Tyrosine Kinase

Nourhen Agrebi #  1 , Giusy Gentilcore #  2 , Jean-Charles Grivel  2 , Ghroob Alkhayer  3 , Jihad Hassoun  4 , Amel Hassan  5 , Mehdi Adeli  5 , Bernice Lo  6
Affiliations
Case Reports

X-Linked Agammaglobulinemia Case with TH Domain Missense Mutation in Bruton Tyrosine Kinase

Nourhen Agrebi et al. J Clin Immunol. 2021 May.
No abstract available

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Conflict of interest statement

The authors declare that they have no conflicts of interest.

Figures

Fig. 1
Fig. 1
a Family pedigree. b Multiple protein alignment showing the conservation level of C155 residue in different species (threshold 100%). c Sanger sequence analysis of the BTK gene showing the hemizygous (c.464 G>A) mutation. The mother is heterozygous. d Flow cytometry assessment of intracellular BTK expression was performed on gated monocytes in the patient (C155Y) and parents. The patient with the M509I BTK mutation was included as a disease control. Normal BTK expression was observed in the father and two healthy controls (control 1 and control 2). Data shown is representative of two independent experiments. e Pairwise alignment between wild-type and mutant BTK proteins. Variations discussed in this report have been highlighted with a blue background above the protein sequence. The current case report mutation C155Y is marked with red arrow
See this image and copyright information in PMC

References

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