Hermansky–Pudlak syndrome type 4 with interstitial pneumonia
نویسندگان
چکیده
منابع مشابه
Hermansky–Pudlak syndrome type 4 with interstitial pneumonia
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism, bleeding tendency, and lysosomal accumulation of ceroid-like material, with occasional development of interstitial pneumonia (IP). Nine genetically distinct subtypes of HPS are known in humans; IP develops primarily in types 1 and 4. Most reported cases of HPS with IP are type 1, and the...
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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: Respiratory Medicine Case Reports
سال: 2013
ISSN: 2213-0071
DOI: 10.1016/j.rmcr.2013.04.002