2010
DOI: 10.1016/j.humimm.2010.06.002
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Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia

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Cited by 9 publications
(11 citation statements)
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“…1 Another report described a young adult with CHH, frequent infectious exacerbations and rapid progression of BE, leading to fatal septicemic pneumonia within 2 years. 9 We previously reported higher IgG levels in infection-prone patients with CHH. 2 Here, we find the same trend, as well as higher white blood cells, total lymphocyte, and CD16/56 1 cell counts in CHH patients with BE.…”
mentioning
confidence: 88%
“…1 Another report described a young adult with CHH, frequent infectious exacerbations and rapid progression of BE, leading to fatal septicemic pneumonia within 2 years. 9 We previously reported higher IgG levels in infection-prone patients with CHH. 2 Here, we find the same trend, as well as higher white blood cells, total lymphocyte, and CD16/56 1 cell counts in CHH patients with BE.…”
mentioning
confidence: 88%
“…252,254 In 1 reported female patient, an immunologic phenotype similar to severe CVID (see SSs 85-93) manifested in adulthood (age 26 years). 255 Summary statement 67. Medical management of immunoosseous syndromes should include antibiotic prophylaxis and IgG supplementation appropriate to the severity of the immune dysfunction.…”
Section: Combined B-and T-cell Immunodeficienciesmentioning
confidence: 99%
“…5,6 Recently, a case of antibody deficiency resembling common variable immune deficiency has been identified in an adult patient with CHH. 7 …”
mentioning
confidence: 99%