STK4 Deficiency in a Patient with Immune Complex Glomerulonephritis, Salt-Losing Tubulopathy, and Castleman's-Like Disease

Bandar Al-Saud; Huda Alajlan; Haneen Sabar; Siddiq Anwar; Hibah Alruwaili; Turki Al-Hussain; Nada Alamri; Anas M Alazami

doi:10.1007/s10875-019-00682-9

STK4 Deficiency in a Patient with Immune Complex Glomerulonephritis, Salt-Losing Tubulopathy, and Castleman's-Like Disease

J Clin Immunol. 2019 Nov;39(8):823-826. doi: 10.1007/s10875-019-00682-9. Epub 2019 Aug 23.

Authors

Bandar Al-Saud^{1

2}, Huda Alajlan³, Haneen Sabar⁴, Siddiq Anwar⁵, Hibah Alruwaili³, Turki Al-Hussain⁶, Nada Alamri⁵, Anas M Alazami^{7

8}

Affiliations

¹ Section of Pediatric Allergy/Immunology, Department of Pediatrics, King Faisal Specialist Hospital & Research Center, MBC-58, PO Box 3354, Riyadh, 11211, Saudi Arabia. [email protected].
² College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. [email protected].
³ Department of Genetics, King Faisal Specialist Hospital and Research Centre, MBC-03, PO Box 3354, Riyadh, 11211, Saudi Arabia.
⁴ Section of Pediatric Allergy/Immunology, Department of Pediatrics, King Faisal Specialist Hospital & Research Center, MBC-58, PO Box 3354, Riyadh, 11211, Saudi Arabia.
⁵ Section of Nephrology, Department of Medicine, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
⁶ Section of Anatomic Pathology, Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
⁷ Department of Genetics, King Faisal Specialist Hospital and Research Centre, MBC-03, PO Box 3354, Riyadh, 11211, Saudi Arabia. [email protected].
⁸ Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia. [email protected].

PMID: 31444685
DOI: 10.1007/s10875-019-00682-9

No abstract available

Keywords: Gitelman syndrome; MST1; NGS; Primary immunodeficiency; autosomal recessive; combined immunodeficiency diseases; infection; molecular genetics; renal.

Publication types

Case Reports
Letter

MeSH terms

Adolescent
Bartter Syndrome / diagnosis
Castleman Disease / diagnosis*
Castleman Disease / genetics
Castleman Disease / immunology
Castleman Disease / pathology
Diagnosis, Differential
Female
Gitelman Syndrome / diagnosis
Glomerulonephritis / diagnosis*
Glomerulonephritis / genetics
Glomerulonephritis / immunology
Glomerulonephritis / pathology
Humans
Immune Complex Diseases / diagnosis*
Immune Complex Diseases / genetics
Immune Complex Diseases / immunology
Immune Complex Diseases / pathology
Intracellular Signaling Peptides and Proteins
Kidney Glomerulus / pathology
Lymph Nodes / pathology
Primary Immunodeficiency Diseases / diagnosis*
Primary Immunodeficiency Diseases / genetics
Primary Immunodeficiency Diseases / immunology
Primary Immunodeficiency Diseases / pathology
Protein Serine-Threonine Kinases / genetics*

Substances

Intracellular Signaling Peptides and Proteins
STK4 protein, human
Protein Serine-Threonine Kinases