The Phenotype of Human Stk4 Deficiency

The Phenotype of Human Stk4 Deficiency Publisher Pubmed

Abdollahpour H¹ ; Appaswamy G¹ ; Kotlarz D^{1, 2} ; Diestelhorst J^{1, 2} ; Beier R¹ ; Schaffer AA³ ; Gertz EM³ ; Schambach A⁴ ; Kreipe HH⁵ ; Pfeifer D⁶ ; Engelhardt KR⁷ ; Rezaei N⁸ ; Grimbacher B⁷ ; Lohrmann S⁹ Show All Authors

Abdollahpour H¹
Appaswamy G¹
Kotlarz D^{1, 2}
Diestelhorst J^{1, 2}
Beier R¹
Schaffer AA³
Gertz EM³
Schambach A⁴
Kreipe HH⁵
Pfeifer D⁶
Engelhardt KR⁷
Rezaei N⁸
Grimbacher B⁷
Lohrmann S⁹
Sherkat R¹⁰
Klein C^{1, 2}

Show Affiliations

1. Department of Pediatric Hematology/Oncology, Hannover Medical School, Hannover, Germany
2. University Children's Hospital Munich, Dr Von Haunersches Kinderspital, D-80337 Munich, Lindwurmstraße 4, Germany
3. National Center for Biotechnology Information, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, United States
4. Department of Experimental Hematology, Hannover Medical School, Hannover, Germany
5. Institute of Pathology, Hannover Medical School, Hannover, Germany
6. Department of Hematology/Oncology, Core Facility II Genomics, Freiburg University Medical Center, Freiburg, Germany
7. Department of Immunology and Molecular Pathology, Royal Free Hospital, University College London, London, United Kingdom
8. Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
9. Department of Pediatric Cardiology, Hannover Medical School, Hannover, Germany
10. Infectious Diseases Research Center, Department of Infectious Diseases, Isfahan University of Medical Sciences, Isfahan, Iran

Source: Blood Published:2012

Abstract

We describe a novel clinical phenotype associating T- and B-cell lymphopenia, intermittent neutropenia, and atrial septal defects in 3 members of a consanguineous kindred. Their clinical histories included recurrent bacterial infections, viral infections, mucocutaneous candidiasis, cutaneous warts, and skin abscesses. Homozygosity mapping and candidate gene sequencing revealed a homozygous premature termination mutation in the gene STK4 (serine threonine kinase 4, formerly having the symbol MST1). STK4 is the human ortholog of Drosophila Hippo, the central constituent of a highly conserved pathway controlling cell growth and apoptosis. STK4-deficient lymphocytes and neutrophils exhibit enhanced loss of mitochondrial membrane potential and increased susceptibility to apoptosis. STK4 deficiency is a novel human primary immunodeficiency syndrome.

2. Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis, Journal of Clinical Immunology (2018)

3. The Clinical, Immunohematological, and Molecular Study of Iranian Patients With Severe Congenital Neutropenia, Journal of Clinical Immunology (2007)

4. Clinical and Molecular Assessment of Iranian Families With Severe Congenital Neutropenia, Identification of Hyou1 and Shoc2 As Potential Novel Gene Defects, Iranian Journal of Allergy, Asthma and Immunology (2022)

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Style	Citing Format
MLA	Abdollahpour H, et al.. "The Phenotype of Human Stk4 Deficiency." Blood, vol. 119, no. 15, 2012, pp. 3450-3457.
APA	Abdollahpour H, Appaswamy G, Kotlarz D, Diestelhorst J, Beier R, Schaffer AA, Gertz EM, Schambach A, Kreipe HH, Pfeifer D, Engelhardt KR, Rezaei N, Grimbacher B, Lohrmann S, Sherkat R, Klein C (2012). The Phenotype of Human Stk4 Deficiency. Blood, 119(15), 3450-3457.
Chicago	Abdollahpour H, Appaswamy G, Kotlarz D, Diestelhorst J, Beier R, Schaffer AA, Gertz EM, et al.. "The Phenotype of Human Stk4 Deficiency." Blood 119, no. 15 (2012): 3450-3457.
Harvard	Abdollahpour H et al. (2012) 'The Phenotype of Human Stk4 Deficiency', Blood, 119(15), pp. 3450-3457.
Vancouver	Abdollahpour H, Appaswamy G, Kotlarz D, Diestelhorst J, Beier R, Schaffer AA, et al.. The Phenotype of Human Stk4 Deficiency. Blood. 2012;119(15):3450-3457.
BibTex	@article{ author = {Abdollahpour H and Appaswamy G and Kotlarz D and Diestelhorst J and Beier R and Schaffer AA and Gertz EM and Schambach A and Kreipe HH and Pfeifer D and Engelhardt KR and Rezaei N and Grimbacher B and Lohrmann S and Sherkat R and Klein C}, title = {The Phenotype of Human Stk4 Deficiency}, journal = {Blood}, volume = {119}, number = {15}, pages = {3450-3457}, year = {2012} }
RIS	TY - JOUR AU - Abdollahpour H AU - Appaswamy G AU - Kotlarz D AU - Diestelhorst J AU - Beier R AU - Schaffer AA AU - Gertz EM AU - Schambach A AU - Kreipe HH AU - Pfeifer D AU - Engelhardt KR AU - Rezaei N AU - Grimbacher B AU - Lohrmann S AU - Sherkat R AU - Klein C TI - The Phenotype of Human Stk4 Deficiency JO - Blood VL - 119 IS - 15 SP - 3450 EP - 3457 PY - 2012 ER -

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