Omenn Syndrome in a 10-Month-Old Male With Athymia and VACTERL Association

    July 2023 in “ Journal of allergy and clinical Immunology. Global ”
    Bimaljit K. Pangli, Stephen R. Braddock, Alan P. Knutsen
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    TLDR A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
    This case report details a 10-month-old boy with VACTERL association and athymia who developed Omenn syndrome (OS). The patient had multiple congenital anomalies, including vertebral defects, cardiac malformations, and renal agenesis, and was diagnosed with complete DiGeorge syndrome (DGS). He presented with a scaly erythrodermic rash, alopecia, eosinophilia, and lymphadenopathy. Immunologic studies showed absent T cells but normal B-cell and natural killer cell levels. Despite treatment, he experienced recurrent infections. Genetic testing identified WNT10A mutations, linked to ectodermal dysplasia. The case underscores the complexity of managing VACTERL association with athymia and the challenges in treating OS without thymus transplantation. Notably, the patient had atypical DGS without the 22q11 deletion, a rare combination, highlighting the need for further research into these overlapping conditions.
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