A delayed diagnosis of X-linked hyper IgM syndrome complicated with toxoplasmic encephalitis in a child
نویسندگان
چکیده
منابع مشابه
A delayed diagnosis of X-linked hyper IgM syndrome complicated with toxoplasmic encephalitis in a child
INTRODUCTION The X-linked hyper-immunoglobulin M syndrome (XHIGM) is an uncommon primary combined immunodeficiency disease caused by CD40L gene mutations. A delayed or missed diagnosis of XHIGM is common and concerning, owing to atypical immunoglobulin profile and phenotype of some patients, low recognition, and limited knowledge of clinicians on XHIGM in some underdeveloped areas. Opportunisti...
متن کاملX-linked hyper-IgM syndrome with eosinophilia in a male child: A case report
The hyper-IgM syndromes (HIGMs) are a group of primary immune deficiency diseases characterized by a normal or elevated serum level of IgM and low or absent serum levels of IgG, IgA and IgE. Here, we report a case of X-linked HIGM with a new CD40L gene mutation presenting with eosinophilia. The patient experienced recurrent pneumonia and acute respiratory distress syndrome (ARDS) from 4 months ...
متن کاملRetrospective diagnosis of X-linked hyper-IgM syndrome in a family with multiple deaths of affected males.
All males in two generations of a Hungarian family died of interstitial pneumonia. History and records suggested X-linked hyper-IgM syndrome (X-HIGM). DNA sequencing of a female carrier revealed a c. 654C->A transversion of the CD40L gene that predicts premature termination of CD40L synthesis. This report points to the importance of early carrier detection and genetic counseling in families wit...
متن کاملHyper-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...
متن کاملMorbidity and Mortality of Iranian Patients with Hyper IgM Syndrome: a Clinical Analysis
Background: Defects in B cell class switch recombination (CSR) are a heterogeneous and yet very uncommon group of disorders which all have a genetic basis uniformly leading to hyper IgM (HIgM) syndrome. Due to the rare frequency of these conditions, a very small number of case series have been conducted on the affected patients. Objective: To shed some light on the morbidity and mortality regar...
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ژورنال
عنوان ژورنال: Medicine
سال: 2017
ISSN: 0025-7974
DOI: 10.1097/md.0000000000008989