Immune Deficiency-Related Enteropathy-Lymphocytopenia-Alopecia Syndrome Results from Tetratricopeptide Repeat Domain 7A Deficiency

    August 2014 in “ ˆThe ‰journal of allergy and clinical immunology/Journal of allergy and clinical immunology/˜The œjournal of allergy and clinical immunology ”
    Robert Lemoine, Jana Pachlopnik Schmid, Henner F. Farin, Amélie Bigorgne, Marianne Debré, Fernando E. Sepulveda, Sébastien Héritier, Julie Lemale, Cécile Talbotec, Frédéric Rieux‐Laucat, Frank M Ruemmele, A. Morali, P. Cathébras, Patrick Nitschké, Christine Bôle‐Feysot, Stéphane Blanche, Nicole Brousse, Capucine Pïcard, Hans Clevers, Alain Fischer, Geneviève de Saint Basile
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    TLDR A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
    The study investigated the molecular causes of early-onset IBD, immune deficiency, and alopecia in 13 patients from a consanguineous family and an unrelated patient. Researchers identified biallelic missense mutations in the TTC7A gene, which led to altered lymphocyte functions through the RhoA signaling pathway. This mutation affected cell proliferation, adhesion, and migration, which were restored by wild-type TTC7A or a RhoA kinase inhibitor. Gut epithelial organoids also showed dependency on the RhoA pathway. The findings demonstrated that TTC7A is crucial for maintaining cell equilibrium and that its deficiency in both lymphocytes and epithelial cells contributes to IBD.
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