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Case Reports
. 2024 Sep 23;45(1):14.
doi: 10.1007/s10875-024-01804-8.

Concomitant Ultrarare Mutations in TLR3 and CTPS2 in a Patient with Severe and Recurrent Respiratory Infections in Early Life

Salim Bougarn #  1 , Andrea Guennoun #  2 , Taushif Khan  2   3 , Rafah Mackeh  2 , Mehdi Adeli #  4   5 , Nico Marr #  6   7
Affiliations
Case Reports

Concomitant Ultrarare Mutations in TLR3 and CTPS2 in a Patient with Severe and Recurrent Respiratory Infections in Early Life

Salim Bougarn et al. J Clin Immunol. .
No abstract available

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Identification of a homozygous TLR3 and hemizygous CTPS2 gene mutation in a patient from consanguineous parents. Parents are first cousins. (a) Pedigree and segregation of the TLR3 and CTPS2 gene mutation. The patient is homozygous for the TLR3 mutation and hemizygous for CTPS2 mutation. (b) Sanger sequence analysis of the TLR3 gene showing the homozygous (c.2228 G > A) mutation; Electropherogram of partial forward sequences of TLR3 corresponding to the mutation in the patient, The alignment was done on Unipro UGENE 48.0. The reference vs. altered nucleotide position is indicated by a blue box. (c) Sanger sequence analysis of the CTPS2 gene showing the hemizygous (c.1585 T > G) mutation; Electropherograms of partial sequences of CTPS2 corresponding to the mutation in a relative (R6) CTPS2wt/wt (top), patient (bottom), and a CTPS2wt/mut relative, R2 (middle). The reference vs. altered nucleotide position is indicated by a blue box
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