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Register a new userHyperimmunoglobulinemia E (Hyper IgE ) Syndrome with Recurrent Infections or Job Syndrome
متلازمة فرط الغلوبولين المناعي E في الدم مع الأخماج المعاودة أو متلازمة جوب Job
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عصام أنجق( باحث )
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متلازمة فرط الغاماغلوبولين IgE مع الأخماج المعاودة أو متلازمة جوب syndrome Job هي عوز مناعي نادر يتميز بخراجات جلدية و رئويـة متكـررة مـع ارتفـاع شـديد فـي مستوىIgE في المصل و التهاب جلد أكزيمائي الشكل. الاضـطرابات الوجهيـة و العظميـة مدروسة و لكن نسبة حدوثها غير معروفة. الأساس الوراثي للمتلازمة غير مفهـوم بـشكل واضح.
The hyper immuno-globuline E (IgE) syndrome with recurrent infections or Job syndrome is a rare immunodeficiency characterized by recurrent skin and pulmonary abscesses and extremely elevated levels of IgE in serum with eczematous dermatitis. Associated facial and skeletal features have been recognized but their frequency is unknown. The genetic basis of this syndrome is poorly understood.
References used
Buckley, R. H., Hyperimmunoglobulinemia E( Hyper IgE) Syndrome in Nelson Textbook Of Pediatrics Edited by Saunders; 2000 : 576-577
Borges, W.G., Augustine, N. H. and Hill, H. R., Defective Interleukin-12/Interferon-Gamma Pathway in Patients with Hyperimmunoglobulinemia E Syndrome, J Pediatrics, 2000 Feb;136(2): 141-143
Segal, B.H. and Holland S.M., Primary Phagocytic Disorders of Childhood, The Pediatric Clinics of North America,2000 Dec. 47(6): 1330-1332
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Hyperimmunoglobulin E (Job) syndrome is considered to be a relatively rare
disease. Its characterized by recurrent infections in skin (eg. boils, abscesses), recurrent upper respiratory
tract infections (eg. otitis media, sinusitis and mastoiditis)
, and lower respiratory infections (eg. recurrent
pneumonia, which is often complicated by pneumatoceles and lung abscess), that are usually difficult to
treat. The highly increased IgE levels are considered to be the hallmark of the disease. The syndrome has
two types: one is inherited as an autosomal recessive, and the other, as an autosomal dominant trait.
To highlight the clinical manifestations and laboratory findigs of Job disease, and to compare it with
medical literature, to study the bacterial complications and differrent types of antibacterial treatments
and treir results, and to increase the level of awareness among physicians.
Background& Objective: Selective IgA deficiency is the most common primary immunodeficiency in
humans. Its prevalence ranges from 1 in 100 to 1 in 1000 in among Arab populations. The majority of
patients with selective IgA deficiency are asymptomat
ic. The remaining present with recurrent upper and
lower respiratory tract infections, recurrent gastrointestinal infections, otitis media, sinusitis, celiac
disease, giardiasis, allergic disorders and some autoimmune diseases.
to highlight the clinical manifestations and laboratory findings of Selective IgA deficiency in our study,
and to compare it with medical literature. To study the bacterial complications and their prevalence.
Materials & Methods: A retrospective study was carried out in Damascus University Children’s Hospital
on sixteen child diagnosed as Selective IgA deficiency, in a period of the last ten years (from 2000 till
September 2010).
Results: most cases in our study were among males, failure to thrive was found in 75%,
hepatosplenomegaly in one third, the most prominent infectious complications were: recurrent pneumonia
(in 87.5% of cases), recurrent GI infections (in 75% of cases) and UTI’s in (50%)of cases. On the other
hand, the celiac disease was found in (25%) of our patients, which is much higher than described in
medical literature. In general, the infectious complications had a good response to antibacterial therapy,
and the IgA levels became normal in one patient, when he reached the age of eleven years.
Conclusion: there is no information in medical literature about the association of selective IgA deficiency
with hepatomegaly, splenomegaly, failure to thrive and an increased prevalence of urinary tract
infections, therefore, it is necessary to conduct researches about this association.
There is Some evidence to suggest that the systemic inflammatory response syndrome
(SIRS) contributes to the poor outcome of cirrhotic patients. We studied 95 cirrhotic patients admitted
to Almouassat and Al-assad University Hospitals assessing prevalence of SIRS and its relationship
with short term outcome.
The aim of the present research is to determine the appropriate diagnostic
methods to find out the affected fetuses with Down Syndrome in order to
decrease as possible subjecting the pregnant women to invasive prenatal
diagnosis .
This is a Prosp
ective – practical study, where /1137/ pregnant women at 13-
16 gestation weeks, ( age range: 20-42 years) were included.
Biochemical screening of the pregnant women, ultrasound screening of the
fetuses: nuchal translucency, nasal bone, which helped us to isolate the highrisk
pregnancies for Down syndrome (the potential rate of incidence ≥
0.4%).
The screen positive group included 57 pregnant ( 5.01% ) . Amniocentesis
and subsequently karyotyping was done to each woman in this group . We
found out 4 affected fetuses from 5 ( 80%) , because the following up of the
remaining pregnancies revealed a fifth affected newborn with Down
syndrome.
The early prenatal diagnosis of Down syndrome was possible in ( 80% ) by
subjecting only ( 5.01% ) of pregnants to the invasive prenatal diagnosis .
متلازمة داون
التشخيص غير الغازي قبل الولادة
المسح الكيميائي – الحيوي
المسح بالأمواج فوق الصوتية
التشخيص الغازي قبل الولادة
بزل السائل الأمنيوسي
تحديد الصيغة الصبغية
Down syndrome
Invasive prenatal diagnosis
Non invasive prenatal diagnosis
Ultrasound screening
Biochemical screening
Amniocentesis
Karyotyping
المزيد..
The empty sella syndrome (ESS) is an asymptomatic radiological syndrome,
affecting 6% of post-menopausal women and can be seen in all ages.
The results were similar with other studies in many respects, such as a wide
age spectrum including childre
n, and the occurrence of diabetes insipidus in
5.97%.
The results of our study were discordant with other studies with respect to
hyperprolactinemia which reached 58.2% in our study (in other studies did
not exceed 33.7%). No concurrent cases of secretory pituitary adenomas
were found (studies refer to an incidence of acromegaly and Cushing’s
syndrome in 2.6% of ESS for each). We did not record CSF rhinorrhea nor
were visual disturbances seen in our cohort. Patients received symptomatic
treatment and none were referred to surgery.
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