Immunodeficiency: primary or acquired

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Humans with Compound Heterozygous Mutations in Forkhead Box n1 (foxn1) Have a Severe Immunodeficiency with Normal Skin and Hair Development

Friday, June 16
6:15 PM - 7:30 PM

Patients with mutations in the Forkhead Box N1 (Foxn1) transcription factor are born with a severe T-cell lymphopenia in combination with alopecia and nail dystrophy (OMIM # 600838). The T-cell lymphopenia results from the impaired development and/or function of the epithelial cells in the thymus. All the known Foxn1 mutations in humans are homozygous and affect the thymus, skin, and hair, replicating the phenotypes of the nude mouse strain harboring mutations in Foxn1. We report on 3 independently identified patients with distinct clinical presentations compared to previously reported cases. Of significance, each patient had compound heterozygous mutations in Foxn1, leading to low T cell numbers. All 3 patients had normal hair, skin, and no clinical signs of nail dystrophy. To better define the molecular basis of this novel clinical presentation, we used CRISPR/Cas techniques and generated the corresponding mutations in the mouse Foxn1 sequence. We will present data on the phenotypes of these mice, using intercrosses between individual mutant mice. Comparative transcriptome analyses of fetal thymii from these mice and epithelial cell lines will be undertaken. These studies will reveal how the Foxn1 mutations impact thymic epithelial gene expression and function compared to normal Foxn1. Our findings may lead to a better understanding of the role of Foxn1 in epithelial cell development and function for both the thymus and skin.

Nicolai S.C.. van Oers

Associate Professor
UT Southwestern Medical Ctr

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    Shaheen Khan

    Instructor
    UT Southwestern Medical Center

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      Grace Padron

      Immunology Fellow
      Duke University Medical Center

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        Qiumei Du

        Post-doctoral fellow
        UT Southwestern Medical Center

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          Igor Dozmorov

          Associate Professor
          UT Southwestern Medical Center

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            M. Louise Markert

            Professor
            Duke University Medical Center

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              M. Teresa de la Morena

              Professor
              UT Southwestern Medical Center

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