Fereshteh Karbasian, Iran
shahid beheshti university of medical sciences mofid children hospitalPresenter of 1 Presentation
X-LINKED HYPER-IGM SYNDROME IN 7 MEMBERS OF A FAMILY: A CASE SERIES
Abstract
Background and Aims
Hyper-IgM is a rare disorder of immune system.The defect is in CD40 ligand ,so T-helpers couldn’t alter IgM to other immunoglobulin types.The lack of immune antibodies and impaired immune memory cause a lot of particular infection diseases plus autoimmunity and other irrelevant problems, such as malignancy.Among different types of HIGM, x-linked one is the most common disorder characterized by male patients and female carriers in the family.Clinical manifestations are different, even in a single family.The common ones are recurrent respiratory bacterial infections,especially byencapsulated microorganisms, infectious diarrhea, failure to thrive, autoimmune disorders, anemia, thrombocytopenia and neutropenia. Malignancies are one of their problems too.
Methods
Here, we report 7 patients of a family with a single pathology and positive genetic study. All cases are male and the x-linked pattern is vivid in their relationship algorithm.
Results
The x-linked type is the most common one. In this report we emphasize on the importance of the family history taking in patients which have sever immunodeficiency disorders. We present patients of a single family with recurrent infections history, which couldn't be diagnosed without precious history taking and genetic study was positive for them.(CD40LG NM_000074,Intron 1,c.156+2T>C)
Conclusions
According to the high numbers of the patents in this family, it would be a great example of x-linked patterninHIGM and the effect of history taking on diagnosis and rapid treatment. We couldn't find such a great numbers in any articles of familiar cases. We hope, this report helps to understand this importance.