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, "Clinical Phenotypes and Immunological Characteristics of 18 Egyptian LRBA Deficiency Patients.", J Clin immunol, issue doi: 10.1007/s10875-020-00799-2., 2020.
, "The Konya Declaration for Patients with Primary Immunodeficiencies. Maródi L; J Project Study Group.", J Clin immunol, issue doi: 10.1007/s10875-020-00797-4., 2020.
Galal, N., S. Meshaal, R. E. Hawary, D. A. Elaziz, R. Alkady, S. Lotfy, A. Eldash, J. Boutros, and A. ELmarsafy, "Patterns of Primary Immunodeficiency Disorders Among a Highly Consanguineous Population: Cairo University Pediatric Hospital's 5-Year Experience.", Journal of clinical immunology, 2016 Aug 2. Abstract

INTRODUCTION: Primary immunodeficiency disorders (PIDs) are heterogeneous disorders that mainly present with severe, persistent, unusual, or recurrent infections in childhood. Reports from different parts of the world indicate a difference between Western and Eastern populations.

AIM: The aim of this study was to report on the different patterns of PIDs and identify subgroup characteristics in a highly consanguineous population in Egypt.

METHODS: We performed a retrospective chart review for children below 18 years diagnosed with PID at Cairo University Pediatric Hospital from 2010 to 2014.

RESULTS: Four hundred seventy-six children were diagnosed with PID disorders. Major categories included combined immunodeficiency disorders, which constituted a large proportion (30 %) of cases, along with predominantly antibody disorders (18 %) followed by syndromic combined disorders (16.8 %), phagocytic disorders (13.2 %), immune dysregulation disorders (10.5 %), and autoinflammatory disorders (9 %).

CONCLUSION: PIDs have different patterns within inbred populations with high consanguinity.

Galal, N., Clinical Outcome of Children with Post Bacillus Calmette and Guerin Vaccination Complications: A Single Center Experience, , 2012. Abstract

Background: Bacillus Calmette ET Guerin (BCG) vaccine, compulsory in endemic areas, remains the only available vaccine for prevention of Tuberculosis (TB) despite its modest protective value. Complications may arise in healthy/ immunocompromized hosts. Methods: Children presenting with BCG vaccine related complications in the form of local/distant complications were enrolled from 2007-2010 at Cairo University Pediatric hospital. Objectives: assess outcome of BCG related complications in a group of children with post vaccination incidents, identify risk factors for complications among vaccinated children and identify cases of underlying Primary Immunodeficiency (PID) among presenting cases. Results: Fifty one eligible patients were included, forty three were proved immunocompetent, and eight had underlying primary immunodeficiency disorders. Presentations included localized axillary lymphadenopathy, cervical sinuses, granulomatous lesions and disseminated forms Faulty injection sites were strongly associated with complications (p value < 0.001).Patients without underlying PID had larger scar size and younger age at presentations (p values: 0.02, 0.0001 respectively).Resolution of lesions was observed in 97 % (95% CI 97% ± 3%) of cases without underlying PID versus fatal outcome in all cases with underlying immune defects. Conclusion: Local BCG related complications do not necessarily indicate underlying PID, disseminated complications are more serious and warrant further investigations. If PID is suspected, vaccination should be deferred to avoid its potentially fatal outcome.

Tomerak, R., N. Galal, S. Abdelhady, and K. Naem, Clinical scenario of primary dyslipidaemia in the paediatric age group; an Egyptian experience., , 2012. Abstract


To study the frequency of occurrence of the different forms of primary dyslipidaemia, to display their various clinical presentations and their lipid profile before and six months after therapy.


Prospective study was conducted in the Cairo University Childrens' Hospital. Twenty primary dyslipidaemic cases were included with history taking, clinical examination, electrocardiography and echocardiography. Investigations included: Total cholesterol, total triglycerides, LDL-C and HDL-C using enzymatic colorimetric methods, ApoA1, Apo B100 were evaluated using a Behring nephelometer. Different therapeutic modalities were offered and reassessment of laboratory tests was done every three months.


Parents were consanguineous in 75%. Eleven cases had hypercholesterolaemia; eight had xanthoma, one had xanthelasma, two had hypo pigmentation, three had corneal arcus, one had lipaemia retinalis and six had cardiac manifestations among which one case had myocardial infarction and one case died. Three cases had hypertriglyceridaemia; three had milky plasma, two had xanthoma, two had lipaemia retinalis, one case had pancreatitis and none had cardiac manifestations. Six cases had mixed hyperlipidaemia; five had xanthoma, three had lipaemia retinalis and two had cardiac manifestations. After six months of multi-drug use, the laboratory lipid profile was unsatisfactory in majority of the cases.


Primary dyslipidaemia may present early and paediatricians should have high index of suspicion. These children should be put on early strict lipid reduction protocols to prevent complications.

Galal, N., A. Badawy, O. Khalaf-Allah, and A. Youssef, Identification of T-lymphocyte function in healthy vs. septic preterms and its relation to candidal infections in the hospital setting., , 2012. Abstract


To compare T-cell function in healthy/septic preterms in relation to healthy term babies. Also to determine correlation of sepsis severity with T-cell function and risk to candidal infection.


Patients were recruited to one of three groups. Group (I) included 30 healthy growing preterms, group (II) included preterms with neonatal sepsis whereas group (III) included 30 healthy full term neonates. Patients underwent history taking and comprehensive examination plus laboratory tests including T-Lymphocyte function by blastoid transformation method using phytohaemagglutinin (PHA).


A significant difference exists between healthy preterm vs. septic newborn T cell counts and functions especially those with multiorgan system failure. No correlation was found between candidal infection and T cell functions.


T cell functions are remarkably lower in septic newborns. Septic preterms may have low T cell functions despite absence of lymphopenia. Early detection is advised to improve outcome.

Deen, M. A. K. E., M. Khorshied, Y. A. Zeinab ElSadani, and N. Galal, Mannose-binding lectin (MBL2) gene polymorphism in sickle cell anemia: an Egyptian study, , 2012. Abstract

Sickle cell disease (SCD) is an inherited disorder of sickle hemoglobin affecting millions of people worldwide. The current study aimed at detecting the prevalence of MBL2 exon-1(codons 52, 54, and 57) and promoter region (-221, X/Y) genetic polymorphisms in Egyptian children with SCD to clear out its possible role as a genetic risk factor for susceptibility to vaso-occlusive crisis (VOC) and/or infections. Genotyping of exon-1 and the promoter region was done by polymerase chain reaction for 50 SCD patients and 50 healthy controls. The frequency of MBL2 promoter polymorphism was 32% for the heteromutant genotype, Y/X and 8% for the homomutant genotype, and X/X with no statistical difference in the distribution of the mutant genotypes between SCD patients and controls. MBL2 exon-1 gene mutation in SCD patients was 18% for the heteromutant genotype A/O and 32% for the homomutant genotype O/O. The O/O genotype was significantly higher in SCD patients. Mutation at codon 57 of exon-1 (C allele) was significantly higher in SCD patients. The frequency of intermediate MBL2 expressers was significantly higher in the control group, while the frequency of low MBL2 expressers was higher among the patients. The distribution of MBL2 expressers did not differ between SCD patients with or without recurrent attacks of VOC. There was no association between MBL2 exon-1 or promoter region (-221 Y/X) genetic polymorphisms and the susceptibility to neither VOC nor infections in Egyptian children with SCD.