The transcription factor interferon regulatory 4 (IRF4) belongs to the IRF family and has several important functions for adaptive immune response. Mutations affecting members IRF1, IRF3, IRF7, IRF8, or IRF9 have been described in patients presenting with inborn errors of immunity (IEI) highlighting importance these factors cellular host defense against mycobacterial and/or viral infections. IR...

Objective: Preterm infants are prone to intraventricular hemorrhage. They may suffer from significant morbidity and mortality particularly in those with high-grade hemorrhage. Our objective was to determine the incidence of intraventricular hemorrhage in premature infants transported to a tertiary center compared with those delivered at the level III facility.  Methods: We evaluated all prematu...

Inborn errors of amino-acids metabolism and other inherited Mendeliandisorders are common in the MiddleEast.The number of diagnosed inborn errors of amino acid metabolism is growing constantly on account of and availability and improved of analytical techniques.  The aim of this work was to determine a rough estimate of the incidence rates of phenylketonuria (PKU), tyrosinemia, and maple syrup ...

Common variable immune deficiency (CVID) is known as the most prevalent symptomatic inborn error of immunity associated with autoimmune and inflammatory complications in addition to recurrent infections. In this study, we investigated prevalence acute pericarditis a complication past medical history 337 CVID patients. We found five patients (1.5%) that had experienced pericarditis, described th...

Abstract Neonatal morbidity and mortality rates indicate a country's socioeconomic status the quality, effectiveness of its health care system. This research aimed to identify clinical pattern causes neonatal admission for inborn outborn babies in tertiary university hospital their outcomes. Over year, this prospective hospital-based was conducted intensive unit (NICU) Assiut Children's Hospita...

phenylketonuria (pku) is one of the most common metabolic inborn diseases caused by mutations in the phenylalanine hydroxylase (pah) gene. this gene is linked to a variable number of tandem repeats (vntr) region which is a polymorphic marker that facilitates the implementation of prenatal diagnosis and carrier screening. in this study, vntr with 13 repeats that has not been reported previously ...

An Online First version of this article was made available online at http://link.springer.com/journal/40263/ onlineFirst/page/1 on 22 April 2017. An error was subsequently identified in the article, and the following correction should be noted: Page 1, abstract, column 2, lines 2–6: The following sentence, which previously read: ‘‘... in utero exposure to lamotrigine monotherapy was found to be...

Seventeen bone marrow recipients transplanted for acute leukaemia (8), chronic leukaemia (1), severe aplastic anaemia (3), and various inborn errors of metabolism (5) had 22 episodes of documented infection in the late (greater than 3 months) post-transplant period. Serum C-reactive protein concentrations were considerably increased in patients with bacterial infections, but not in those with v...