Abbreviations
- CNS:
-
Central nervous system
- FOXO1:
-
Forkhead box protein O1
- HSCT:
-
Hematopoietic stem cell transplantation
- INH:
-
Isonizaid
- IVIG:
-
Intravenous immunoglobulin
- MST1:
-
Mammalian sterile 20-like protein
- STK4:
-
Serine/threonine protein kinase
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Acknowledgments
Authors would like to acknowledge Raif Geha, Janet Chou, and Craig Platt (Boston Children’s Hospital, Harvard Medical School, Boston, USA) for performing the genetic sequencing using NGS and its confirmation by Sanger sequencing.
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NR and SMR shared in following up the patient clinically and in writing and reviewing the paper equally.
R El-O, ZA, AA, and EH shared in following up the patient clinically.
HR and AH were following up the patient in CCHE-57357.
ENK was responsible for the pathology reviewing of the patient.
JC, CP, and JW were responsible on the molecular diagnostic part.
All authors reviewed and edited the paper.
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Capsule Summary
We present an extended clinical phenotype of a patient with STK4 deficiency associated with mycobacterial infection.
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Radwan, N., El-Owaidy, R., El-Sayed, Z.A. et al. A Case of STK4 Deficiency with Complications Evoking Mycobacterial Infection. J Clin Immunol 40, 665–669 (2020). https://doi.org/10.1007/s10875-020-00783-w
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DOI: https://doi.org/10.1007/s10875-020-00783-w