scholarly journals Variable Presentation of the CYBB Mutation in One Family, Approach to Management, and a Review of the Literature

2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Tatyana Gavrilova ◽  
Ari Zelig ◽  
Diana H. Lee
Keyword(s):  
Infectious Complications ◽  
Granulomatous Disease ◽  
Review Of The Literature ◽  
Primary Immunodeficiency Disorder ◽  
Family Approach ◽  
Immunodeficiency Disorder ◽  
Cybb Gene ◽  
Life Threatening ◽  
Heterozygous Carriers ◽  
Variable Presentation

Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder marked by abnormal phagocytic function. CGD affects primarily neutrophils and manifests as an early predisposition to severe life-threatening infections. Additionally, patients with CGD are predisposed to unique autoimmune manifestations. While generally spared from infectious complications, heterozygous carriers of the abnormal genes implicated in CGD pathogenesis can still present with autoimmune disorders. A mutation in the CYBB gene is the only X-linked variant of this disease. This article describes a family with the CYBB mutation, its heterogenous presentation, and reviews the literature discussing disease management.

scholarly journals Primary Immunodeficiency with Severe Multi-Organ Immune Dysregulation

2019 ◽  
Vol 2019 ◽  
pp. 1-3
Author(s):  
Tatyana Gavrilova
Keyword(s):  
Primary Immunodeficiency ◽  
Autosomal Recessive Disorder ◽  
Primary Immunodeficiency Disorder ◽  
Biallelic Mutation ◽  
Polyglandular Autoimmune Syndrome ◽  
Whole Exome ◽  
Immunodeficiency Disorder ◽  
Life Threatening ◽  
Polyglandular Autoimmune Syndrome Type

Polyglandular autoimmune syndrome type 1, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare primary immunodeficiency disorder with multi-organ involvement. Besides for being predisposed to severe life-threatening infections, patients with APECED are also prone to organ impairment secondary to severe autoimmunity. As this is an autosomal recessive disorder, a biallelic mutation in the AIRE gene is responsible for APECED. The author presents a case of APECED with a single AIRE mutation. Whole exome sequencing identified a mutation in the BTNL2 gene that the author suggests may have contributed to the patient’s presentation.

scholarly journals A chronic granulomatous disease masked by tuberculosis in a 2-year, 2-month old child: a case report

2021 ◽  
Vol 8 (5) ◽  
pp. 946
Author(s):  
Manas Ranjan Sahoo ◽  
Sunil Nath Jondhale ◽  
Anil Kumar Goel
Keyword(s):  
Chronic Granulomatous Disease ◽  
Bacterial Infections ◽  
Cervical Lymphadenopathy ◽  
Giant Cells ◽  
Epithelioid Cell ◽  
Granulomatous Disease ◽  
Primary Immunodeficiency Disorder ◽  
Recurrent Pneumonia ◽  
Immunodeficiency Disorder ◽  
Granulomatous Disorder

Chronic granulomatous disorder is a rare primary immunodeficiency disorder with phagocytic defect resulting in recurrent bacterial infections. Here we report a 2-year 2-month old male child, who presented with recurrent lymphadenitis and recurrent pneumonia since early infancy. In recent episode he presented with right cervical lymphadenopathy. Biopsy of lymph node revealed confluent necrotizing epithelioid cell granulomas and occasional giant cells but without evidence of tuberculosis and atypical organisms. His dihydrorhodamine 1,2,3 assay (DHR) was positive. Later he responded to prolonged parenteral antibiotics and discharged on itraconazole and trimethoprim-sulhamethaxazole prophylaxis. Here we are going to report a rare case of chronic granulomatous disease whose diagnosis was masked by tuberculosis

scholarly journals Prevention and management of major complications in percutaneous endoscopic gastrostomy

2021 ◽  
Vol 8 (1) ◽  
pp. e000628
Author(s):  
Kurt Boeykens ◽  
Ivo Duysburgh
Keyword(s):  
Clinical Practice ◽  
Abdominal Wall ◽  
Percutaneous Endoscopic Gastrostomy ◽  
Early Recognition ◽  
Endoscopic Technique ◽  
Abdominal Wound ◽  
Review Of The Literature ◽  
Endoscopic Gastrostomy ◽  
Major Complications ◽  
Life Threatening

BackgroundPercutaneousendoscopic gastrostomy is a commonly used endoscopic technique where a tube isplaced through the abdominal wall mainly to administer fluids, drugs and/orenteral nutrition. Several placement techniques are described in the literaturewith the ‘pull’ technique (Ponsky-Gardener) as the most popular one.Independent of the method used, placement includes a ‘blind’ perforation of thestomach through a small acute surgical abdominal wound. It is a generally safetechnique with only few major complications. Nevertheless these complicationscan be sometimes life-threatening or generate serious morbidity.MethodAnarrative review of the literature of major complications in percutaneousendoscopic gastrostomy.ResultsThis review was written from a clinical viewpoint focussing on prevention andmanagement of major complications and documentedscientific evidence with real cases from more than 20 years of clinical practice.ConclusionsMajorcomplications are rare but prevention, early recognition and popper management areimportant.

scholarly journals A Review of Biophysiological and Biochemical Indicators of Stress for Connected and Preventive Healthcare

Diagnostics ◽  
2021 ◽  
Vol 11 (3) ◽  
pp. 556
Author(s):  
Talha Iqbal ◽  
Adnan Elahi ◽  
Pau Redon ◽  
Patricia Vazquez ◽  
William Wijns ◽  
...  
Keyword(s):  
Cardiovascular Events ◽  
Medical Conditions ◽  
Review Of The Literature ◽  
Stress Monitoring ◽  
Preventive Healthcare ◽  
Connected Health ◽  
Root Cause ◽  
Chemical Indicators ◽  
Life Threatening ◽  
Assessment Of Stress

Stress is a known contributor to several life-threatening medical conditions and a risk factor for triggering acute cardiovascular events, as well as a root cause of several social problems. The burden of stress is increasing globally and, with that, is the interest in developing effective stress-monitoring solutions for preventive and connected health, particularly with the help of wearable sensing technologies. The recent development of miniaturized and flexible biosensors has enabled the development of connected wearable solutions to monitor stress and intervene in time to prevent the progression of stress-induced medical conditions. This paper presents a review of the literature on different physiological and chemical indicators of stress, which are commonly used for quantitative assessment of stress, and the associated sensing technologies.

Genetic analysis of CYBB gene in 26 korean families with X-linked chronic granulomatous disease

2014 ◽  
Vol 43 (6) ◽  
pp. 585-594 ◽  
Author(s):  
Sun Hi Ko ◽  
Jung Woo Rhim ◽  
Kyung Sue Shin ◽  
Youn Soo Hahn ◽  
So Young Lee ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Chronic Granulomatous Disease ◽  
Granulomatous Disease ◽  
Korean Families ◽  
Cybb Gene

scholarly journals Identification of a Novel Mutation in the CYBB Gene, p.Asp378Gly, in a Patient With X-linked Chronic Granulomatous Disease

2014 ◽  
Vol 6 (4) ◽  
pp. 366 ◽  
Author(s):  
Sang-Mi Song ◽  
Mi-Ran Park ◽  
Do-Soo Kim ◽  
Jihyun Kim ◽  
Yae-Jean Kim ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Novel Mutation ◽  
Granulomatous Disease ◽  
Cybb Gene

scholarly journals The p47phox mouse knock-out model of chronic granulomatous disease.

1995 ◽  
Vol 182 (3) ◽  
pp. 751-758 ◽  
Author(s):  
S H Jackson ◽  
J I Gallin ◽  
S M Holland
Keyword(s):  
Nadph Oxidase ◽  
Chronic Granulomatous Disease ◽  
Fungal Infections ◽  
Critical Role ◽  
Granulomatous Inflammation ◽  
Mammalian Host ◽  
Granulomatous Disease ◽  
Knock Out ◽  
Phagocyte Nadph Oxidase ◽  
Life Threatening

Chronic granulomatous disease (CGD) is caused by a congenital defect in phagocyte reduced nicotinamide dinucleotide phosphate (NADPH) oxidase production of superoxide and related species. It is characterized by recurrent life-threatening bacterial and fungal infections and tissue granuloma formation. We have created a mouse model of CGD by targeted disruption of p47phox, one of the genes in which mutations cause human CGD. Identical to the case in human CGD, leukocytes from p47phox-/- mice produced no superoxide and killed staphylococci ineffectively. p47phox-/- mice developed lethal infections and granulomatous inflammation similar to those encountered in human CGD patients. This model mirrors human CGD and confirms a critical role for the phagocyte NADPH oxidase in mammalian host defense.

NORMAL GRANULOCYTE INFUSION THERAPY FOR ASPERGILLOSIS IN CHRONIC GRANULOMATOUS DISEASE

PEDIATRICS ◽  
1973 ◽  
Vol 51 (2) ◽  
pp. 230-233
Author(s):  
Andrew A. Raubitschek ◽  
Alan S. Levin ◽  
Daniel P. Stites ◽  
Edward B. Shaw ◽  
H. Hugh Fudenberg
Keyword(s):  
Adverse Effects ◽  
Chronic Granulomatous Disease ◽  
Blood Cells ◽  
White Blood Cells ◽  
Infusion Therapy ◽  
Granulomatous Disease ◽  
Transient Improvement ◽  
Life Threatening ◽  
Granulocyte Function

An 8-year-old boy with chronic granulomatous disease (CGD) was admitted in moribund condition with aspergillus pneumonia. Because of the gravity of the situation, normal granulocyte infusions were used as adjuncts to the more conventional antimicrobial therapy. White blood cells, derived from a total of 58 units of whole blood obtained by leukophoresis of the father, were given in two separate doses. The first dose, totaling 2.8 x 1010 granulocytes, was coincident with significant improvement, and the second, totaling 3.0 x 1010 granulocytes, was coincident with the onset of clinical improvement and interim recovery. Transient improvement in in vitro granulocyte function was noted in cells taken from the patient's blood immediately after infusion. No adverse effects of the infusions were noted in either the patient or the donor. Although it is impossible to divorce the therapeutic effect of the granulocyte infusions from the more conventional therapy, we conclude that normal granulocyte infusions can be considered a valid adjunct in children with CGD who are suffering from a life-threatening infection.

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