Abstract
Type 1 hyper IgM syndrome, is a rare X-linked immunodeficiency and should be suspected in patients with normal or elevated IgM and decreased IgG, IgA and IgE
Patients with CD40L deficiency present in infancy, usually with recurrent and severe sinopulmonary infections
Patients are particularly susceptible to Pneumocystis jirovecii and Cryptosporidium
Management includes infection prevention with intravenous immunoglobulin, Pneumocystis jirovecii pneumonia prophylaxis, and water hygiene precautions, with consideration of hematopoietic stem cell transplantation
Hepatobiliary disease is common and conveys major morbidity and mortality. Annual surveillance due to a risk of malignant transformation is indicated
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Sohn, J.K., Lawrence, M.G. (2019). Shortness of Breath. In: Rezaei, N. (eds) Pediatric Immunology. Springer, Cham. https://doi.org/10.1007/978-3-030-21262-9_41
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DOI: https://doi.org/10.1007/978-3-030-21262-9_41
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