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A Novel CARMIL2 Mutation Resulting in Combined Immunodeficiency Manifesting with Dermatitis, Fungal, and Viral Skin Infections As Well as Selective Antibody Deficiency

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Acknowledgments

We thank the patients their family members who participated in the study and made this research study possible.

Funding

This study was supported by DZIF TTU 07.801 (German Centre for Infection Research).

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Author notes

  1. Faranaz Atschekzei and Roland Jacobs contributed equally to this work.

Authors and Affiliations

  1. Department for Clinical Immunology and Rheumatology, Hannover Medical School, Carl-Neuberg-Str.1, 30623, Hannover, Germany

    Faranaz Atschekzei, Roland Jacobs, Georgios Sogkas, Claudia Schröder, Gerrit Ahrenstorf & Reinhold Ernst Schmidt

  2. Department of Pediatric Pulmonology, Allergy and Neonatology, Hannover Medical School, Hannover, Germany

    Martin Wetzke & Ulrich Baumann

  3. Institute of Virology, Hannover Medical University, Hannover, Germany

    Akshay Dhingra

  4. Division of Pediatric Dermatology and Allergology, AUF DER BULT Children’s Hospital, Hannover, Germany

    Hagen Ott

Authors
  1. Faranaz Atschekzei
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  2. Roland Jacobs
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  3. Martin Wetzke
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  4. Georgios Sogkas
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  5. Claudia Schröder
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  6. Gerrit Ahrenstorf
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  7. Akshay Dhingra
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  8. Hagen Ott
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  9. Ulrich Baumann
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  10. Reinhold Ernst Schmidt
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Contributions

Research design: R.E.S, F. A, R.J; sample collection and analyses: F. A, R. J, M. W, G. S, G. A, C. S U.B; data analysis: F. A, R.J; writing and contributing to writing of the manuscript: all authors.

Corresponding author

Correspondence to Faranaz Atschekzei.

Ethics declarations

Informed consent was obtained from patients and patients’ family members, respectively, according to ethical and legal guidelines (ethics vote number 5582).

Conflict of Interest

The authors declare that they have no conflict of interest.

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Electronic Supplementary Material

Supplementary Notes

A description of the materials, methods and cases. (DOCX 32 kb)

Table S1

The list of genes tested in this study (Gene-panel). (DOCX 19 kb)

Table S2

(DOCX 21 kb)

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Atschekzei, F., Jacobs, R., Wetzke, M. et al. A Novel CARMIL2 Mutation Resulting in Combined Immunodeficiency Manifesting with Dermatitis, Fungal, and Viral Skin Infections As Well as Selective Antibody Deficiency. J Clin Immunol 39, 274–276 (2019). https://doi.org/10.1007/s10875-019-00628-1

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  • DOI: https://doi.org/10.1007/s10875-019-00628-1

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