Compound Heterozygous Mutations of IL2-Inducible T cell Kinase in a Swedish Patient: the Importance of Early Genetic Diagnosis

  • Mingyan Fang
  • Hassan Abolhassani
  • Qiang Pan-Hammarström
  • Erik Sandholm
  • Xiao Liu
  • Lennart HammarströmEmail author
Letter to Editor

To the Editor:

Human primary immunodeficiency diseases (PIDs) comprise a group of highly heterogeneous defects in the immune system and more than 350 genes associated with PIDs have been identified to date [1, 2]. The most common presentation of PIDs is recurrent and chronic infections. Some of the PIDs are life-threatening and manifest in childhood and also result in an enhanced susceptibility to infectious complications, autoimmunity, and malignancy. However, a selected group of patients have a mild and gradual progression due to hypomorphic mutations, presenting late with atypical manifestations.

Effective therapeutic options are available to treat PIDs or preventing infections, such as hematopoietic stem cell transplantation, which cures the underlying immune defect; cellular therapies, which have been developed recently; cytokine treatment; and gammaglobulin substitution, as well as gene therapy, once the underlying molecular defect is identified [3].

The development of next...


Author’s Contribution

M.F. and X.L. performed target region sequencing and bioinformatic analysis; L.H. and E.S. provided clinical care of the patient and provided clinical and immunological assessment; H.A. performed Sanger sequencing validation experiments and revised the paper; M.F., Q. P-H., and L.H. wrote the paper.

Funding Information

This study was supported by the National Natural Science Foundation of China (No.31800765), the Shenzhen Municipal Government of China (JCYJ20170817145536203), the Swedish Childhood Cancer Society (PR2018-0134), the Swedish cancer Society (Cancerfonden), the Swedish Research Council, the European Research Council (RNAEDIT-649019), and the Jeffrey Modell Foundation.

Compliance with Ethical Standards

Conflict of Interest

The authors declare that they have no conflict of interest.


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Mingyan Fang
    • 1
    • 2
    • 3
  • Hassan Abolhassani
    • 3
  • Qiang Pan-Hammarström
    • 4
  • Erik Sandholm
    • 5
  • Xiao Liu
    • 1
    • 2
  • Lennart Hammarström
    • 1
    • 2
    • 3
    Email author
  1. 1.BGI-ShenzhenShenzhenChina
  2. 2.China National GeneBankBGI-ShenzhenShenzhenChina
  3. 3.Division of Clinical Immunology and Transfusion Medicine, Department of Laboratory Medicine, Karolinska Institutet at Karolinska Hospital HuddingeKarolinska University Hospital HuddingeStockholmSweden
  4. 4.Department of Biosciences and NutritionKarolinska InstitutetStockholmSweden
  5. 5.Department of Infectious DiseasesKarlstad’s HospitalKarlstadSweden

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