Hyper-IgM syndrome in a boy with recurrent pneumonia and hepatosplenomegaly
نویسندگان
چکیده
منابع مشابه
Hyper-IgM syndrome complicated with interstitial pneumonia and peritonitis.
Hyper-IgM syndrome (HIM) is a rare disorder resulting from mutation in the CD40 ligand (CD40L) gene. This defect is associated with normal or elevated serum level of IgM and with low to undetectable levels of serum IgG, IgA, IgE. This case of HIM with CD40L deficiency was proven by flow cytometry but initially presented as interstitial pneumonia. Pneumocystis carinii pneumonia was highly sugges...
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ژورنال
عنوان ژورنال: Srpski arhiv za celokupno lekarstvo
سال: 2009
ISSN: 0370-8179,2406-0895
DOI: 10.2298/sarh0902081j