A Case of STK4 Deficiency with Complications Evoking Mycobacterial Infection
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LETTER TO EDITOR
A Case of STK4 Deficiency with Complications Evoking Mycobacterial Infection Nesrine Radwan 1 & Rasha El-Owaidy 1 & Zeinab A. El-Sayed 1 & Ashraf Abdel-Baky 1 & Alaa El-Haddad 2,3 & Hanaa Rashad 2 & Eman Naguib Khorshed 2,3 & Craig D. Platt 4 & Jacqueline G. Wallace 4 & Janet Chou 4 & Elham Hossny 1 & Shereen Medhat Reda 1 Received: 14 December 2019 / Accepted: 20 April 2020 # Springer Science+Business Media, LLC, part of Springer Nature 2020
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
To the Editor, Deficiency of serine/threonine kinase 4 (STK4), also known as mammalian sterile 20-like protein (MST1), is an autosomal recessive primary immunodeficiency disease
(PID), that was first described in 2012 [1]. It is typically characterized by profound CD4 lymphopenia, recurring infections [2], and structural heart anomalies [1]. STK4 deficiency in humans leads to decreased proliferation, increased susceptibility to apoptosis, and dysregulation of the transcription factor forehead box protein O1 (FOXO1) and its downstream targets in T cells [3]. In addition, there is defective adhesion and chemotaxis by leukocytes [4]. The presence of profound CD4 lymphopenia causes multiple bacterial and viral infections, and mucocutaneous candidiasis [1]. Fulminant EBV infections occur that can lead to lymphoproliferation and lymphoma development, attributed to impaired T cell function [4]. EBV infection is not the sole cause of lymphoma susceptibility. It was found that STK4 plays a critical role as a tumor
Capsule Summary We present an extended clinical phenotype of a patient with STK4 deficiency associated with mycobacterial infection. Electronic supplementary material The online version of this article (https://doi.org/10.1007/s10875-020-00783-w) contains supplementary material, which is available to authorized users. * Nesrine Radwan [email protected]
Jacqueline G. Wallace [email protected]
Rasha El-Owaidy [email protected]
Janet Chou [email protected]
Zeinab A. El-Sayed [email protected]
Elham Hossny [email protected]
Ashraf Abdel-Baky [email protected]
Shereen Medhat Reda [email protected]
Alaa El-Haddad [email protected]
1
Hanaa Rashad [email protected]
Paediatric Allergy and Immunology Unit, Children’s Hospital, Ain Shams University, Cairo, Egypt
2
Children’s Cancer Hospital, Egypt (CCHE-57357), Cairo, Egypt
3
National Cancer Institute, Cairo, Egypt
4
Division of Immunology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA
Eman Naguib Khorshed [email protected] Craig D. Platt [email protected]
J Clin Immunol
suppressor and its deficiency increases the incidence of developing lymphoma and leukemia [5]. Interestingly, many patients with STK4 mutation were found to have an over
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