The Middle East and North Africa Diagnosis and Management Guidelines for Inborn Errors of Immunity.

Human inborn errors of immunity (IEI) are a group of 485 distinct genetic disorders affecting children and adults. Signs and symptoms of IEI are heterogeneous, and accurate diagnosis can be challenging and depends on the available human expertise and laboratory resources. The Middle East and North Africa (MENA) region has an increased prevalence of IEI because of the high rate of consanguinity with a predominance of autosomal recessive disorders.

Hematopoietic Stem Cell Transplantation in Thalassemia Patients: a Jordanian Single Centre Experience.

Introduction: Beta thalassemia major is the commonest inherited hematological disorder worldwide which needs lifelong sufficient supportive management. Hematopoietic stem Cell transplantation (HSCT) is the only curative treatment available till now.

Aim: To evaluate the outcome of children who underwent allogenic hematopoietic stem Cell transplantation as a curative approach for Thalassemia Major, treated at Queen Rania AL- Abdullah children Hospital (QRCH).

Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.

Background: Information regarding the prevalence of PKU in the Middle East in comparison to other world regions is scarce, which might be explained by difficulties in the implementation of national newborn screening programs.

Objective: This study seeks for the first time to genotype and biochemically characterize patients diagnosed with hyperphenylalaninemia (HPA) at the Pediatric Metabolic Genetics Clinic at the King Hussein Medical Center, Amman, Jordan.

Methods: A total of 33 patients with HPA and 55 family members were investigated for pterins (neopterin and biopterin) and dihydropteridine reductase (DHPR) activity in dried blood spots.

Saliva versus Plasma Therapeutic Drug Monitoring of Gentamicin in Jordanian Preterm Infants. Development of a Physiologically-Based Pharmacokinetic (PBPK) Model and Validation of Class II Drugs of Salivary Excretion Classification System.

Gentamicin has proven to be a very successful treatment for bacterial infection, but it also can cause adverse effects, especially ototoxicity, which is irreversible. Therapeutic drug monitoring (TDM) in saliva is a more convenient non-invasive alternative compared to plasma. A physiologically-based pharmacokinetic (PBPK) model of gentamicin was built and validated using previously-published plasma and saliva data.

Pattern and diagnostic evaluation of systemic autoinflammatory diseases other than familial Mediterranean fever among Arab children: a multicenter study from the Pediatric Rheumatology Arab Group (PRAG).

To define the spectrum and phenotypic characteristics of systemic autoinflammatory diseases (SAIDs) other than familial Mediterranean fever (FMF) in Arab children and to delineate diagnostic evaluation. Data retrospectively collected on patients with clinical and/or genetically proven SAIDs other than FMF at 10 tertiary Arab pediatric rheumatology clinics from 1990 to 2018. The collected data comprised the clinical findings and diagnostic evaluation including genetic testing, the provided treatment and the accrual damage related to SAIDs.

Nephrocalcinosis among children at king hussein medical center: Causes and outcome.

Nephrocalcinosis (NC) is defined as deposition of calcium crystals in the renal parenchyma and tubules. This is a retrospective review of all the data of 63 children presented to Pediatric Nephrology Clinic at King Hussein Medical Center (KHMC) over a 15-year period with bilateral NC. We determine their causes, clinical presentation and evaluate their growth and renal function during their follow-up.

Phenotypic characteristics and outcome of juvenile dermatomyositis in Arab children.

This study describes the disease characteristics and outcome of Arab children with juvenile dermatomyositis (JDM) and compares the findings with other ethnicities. We retrospectively reviewed the hospital registries of the participating hospitals for children with JDM seen between 1990 and 2016 in three Arab countries. All patients fulfilled Bohan and Peter criteria for JDM, diagnosed before 14 years of age and were of Arab ethnicity.

Pediatric nephrology practice in Jordan.

The practice of pediatric nephrology in a developing country such as Jordan is governed by social, cultural, and economic issues. The prevalence of consanguinity contributes to the emergence of rare heredofamilial disorders and congenital anomalies of the kidneys and urinary tract. Epigenetic factors modify underlying genetic defect predisposing to symptomatic crystalluria.

Primary antibody deficiencies at Queen Rania Children Hospital in Jordan: single center experience.

Background: Primary antibody deficiency, the most common primary immunodeficiency disorder, represents a heterogeneous spectrum of conditions caused by a defect in any critical stage of B cell development and is characterized by impaired production of normal amounts of antigen-specific antibodies.

Objective: This retrospective study aimed at description and analysis of demographic, clinical, immunological features and complications of subjects diagnosed with primary antibody deficiency at a referral center in Jordan.

Methods: The medical records of pediatric patients who were diagnosed as primary antibody deficiency (PAD) during the period from January 2006 to June 2013 were reviewed.

Mismatched related hematopoietic stem cell transplantation in primary immunodeficiency.

Hematopoietic stem cell transplantation (HSCT) is the definitive therapy for a variety of primary immunodeficiency syndromes (PIDs). However, no more than 30% of the patients will have a human leukocyte antigen (HLA)-identical sibling. We retrospectively analyzed our results of ten patients with PID; severe combined immunodeficiency (SCID) (n = 7), hyper IgM (HIgM) (n = 1) and combined immunodeficiency (CID) (n = 2), who lacked a fully matched donor and underwent mismatched related HSCT during the period from 2008 to 2010.

Successful second bone marrow transplantation in Omenn's syndrome after bone marrow aplasia: a case report.

Omenn's syndrome is a rare inherited variant of SCID. It is inevitably fatal, unless treated by bone marrow or stem cell transplantation. However, treatment-related complications and graft rejection are major obstacles to the success of transplantation.