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Three Types of Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome Identified by Whole-Exome Sequencing in Saudi Hypogammaglobulinemia Patients: Clinical, Molecular, and Cytogenetic Features

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Fig. 1
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Abbreviations

ICF:

immunodeficiency, centromeric instability, and facial anomalies

WES:

whole-exome sequencing

DNMT3B:

DNA methyltransferase 3 beta

ZBTB24:

zinc finger and BTB domain containing 24

CDCA7:

cell division cycle associated 7

HELLS:

helicase, lymphoid-specific

FLH3:

familial hemophagocytic lymphohistiocytosis type 3

UNC13D:

Unc-13 homolog D

HSCT:

hematopoietic stem cell transplantation

PHA:

phytohemagglutinin

IVIG:

intravenous immunoglobulin

PCP:

pneumocystis pneumonia

CMV:

cytomegalovirus

HLA:

human leukocyte antigen

References

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Acknowledgements

We acknowledge Dr. Mohammed Alsadhan and Ms. Sarah Hartillosa for their help with the data collection.

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Authors and Affiliations

  1. Allergy and Immunology Section, Children’s Specialized Hospital, King Fahad Medical City, Makkah Almukaramah Road, As Sulimaniyah 6481, Riyadh, 12231, Saudi Arabia

    Hamza A. Alghamdi, Eman M. Alidrissi, Rawan D. Aledielah, Enas S. Alharbi, Murad K. Habazi & Mofareh S. Alzahrani

  2. Cytogenetics Laboratory, King Fahad Medical City, Makkah Almukaramah Road, As Sulimaniyah 6481, Riyadh, 12231, Saudi Arabia

    Suha A. Tashkandi & Khelad A. AlSaidi

Authors
  1. Hamza A. Alghamdi
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  2. Suha A. Tashkandi
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  3. Eman M. Alidrissi
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  4. Rawan D. Aledielah
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  5. Khelad A. AlSaidi
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  6. Enas S. Alharbi
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  7. Murad K. Habazi
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  8. Mofareh S. Alzahrani
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Corresponding author

Correspondence to Mofareh S. Alzahrani.

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The study protocol was approved by the relevant institutional review boards. The patients provided informed consent.

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The authors declare that they have no conflicts of interest.

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Alghamdi, H.A., Tashkandi, S.A., Alidrissi, E.M. et al. Three Types of Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome Identified by Whole-Exome Sequencing in Saudi Hypogammaglobulinemia Patients: Clinical, Molecular, and Cytogenetic Features. J Clin Immunol 38, 847–853 (2018). https://doi.org/10.1007/s10875-018-0569-9

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