Abstract
Neutropenia and Pneumocystis jirovecii pneumonia can be present in HIV infection, different types of severe combined immunodeficiency, hyper IgM syndrome (HIGM) and even X-linked agammaglobulinemia
HIGM is inherited mainly in an X-linked recessive pattern, due to mutations in the CD40L gene
Mutations in CD40, AID, UNG, or NEMO are responsible for autosomal recessive forms of HIGM
Patients with NEMO deficiency associates with ectodermal dysplasia demonstrated by abnormal maturation and growth of skin, hair and teeth, thrombocytopenia, autoimmunity of the GI tract, seronegative arthritis and cholangitis may also be present
Serum IgG is typically very low to absent in HIGM, and serum IgA and IgE are not detectable
Serum IgM may be normal, especially in younger patients
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References
Etzioni A, Ochs HD. The hyper IgM syndrome – an evolving story. Pediatr Res. 2004;56(4):519–25.
Winkelstein JA, Marino MC, Ochs H, Fuleihan R, Scholl PR, Geha R, Stiehm ER, Conley ME. The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients. Medicine. 2003;82(6):373–84.
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Pandey, S., Harville, T. (2019). Respiratory Distress. In: Rezaei, N. (eds) Pediatric Immunology. Springer, Cham. https://doi.org/10.1007/978-3-030-21262-9_39
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DOI: https://doi.org/10.1007/978-3-030-21262-9_39
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