scholarly journals Expanding the Clinical Phenotype of Chronic Granulomatous Disease: a Female Patient with a De Novo Mutation in CYBB

2020 ◽  
Author(s):  
Eveline Y. Wu ◽  
Hye Sun Kuehn ◽  
Sergio D. Rosenzweig ◽  
Ivona Aksentijevich ◽  
Diana B. McShane
Keyword(s):  
Chronic Granulomatous Disease ◽  
Female Patient ◽  
De Novo ◽  
Clinical Phenotype ◽  
De Novo Mutation ◽  
Granulomatous Disease

scholarly journals A C126R de novo Mutation in CYBB Leads to X-linked Chronic Granulomatous Disease With Recurrent Pneumonia and BCGitis

2018 ◽  
Vol 6 ◽  
Author(s):  
Jose Antonio Tavares de Albuquerque ◽  
Edgar Borges de Oliveira Junior ◽  
Nuria Bengala Zurro ◽  
Paola Vendramini ◽  
Edson Kiyotaka Ishizuka ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
De Novo ◽  
De Novo Mutation ◽  
Granulomatous Disease ◽  
Recurrent Pneumonia

scholarly journals Skewed X-inactivation in a Female Carrier with X-linked Chronic Granulomatous Disease

2019 ◽  
Author(s):  
Itzel López-Hernández ◽  
Caroline Deswarte ◽  
Miguel Ángel Alcantara-Ortigoza ◽  
María del Mar Saez-de-Ocariz ◽  
Marco Antonio Yamazaki-Nakashimada ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
De Novo ◽  
X Inactivation ◽  
De Novo Mutation ◽  
Female Carrier ◽  
Reactive Oxygen Metabolites ◽  
Granulomatous Disease ◽  
Oxygen Metabolites ◽  
Skewed X Inactivation ◽  
Skewed X Chromosome Inactivation

Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by defective phagocytic NADPH oxidase, causing a complete lack or significant decrease in the production of microbicidal reactive oxygen metabolites. It mainly affects male children; however, there are scarce reports of adult females diagnosed with X-linked-CGD attributed to an extremely skewed X-chromosome inactivation. This condition is characterized by severe and recurrent infections that usually develop after childhood. In clinical practice, physicians who usually confront these patients should suspect this entity and differentiate it from a secondary immunodeficiency. Here, we report a 38-year-old Mexican female with juvenile-onset X linked-CGD, caused by a de novo mutation and extremely skewed X-inactivation, whose clinical features were similar to those in patients with classic X-linked-CDG.

scholarly journals Development of Hodgkin lymphoma in a patient with sarcoidosis

Reumatismo ◽  
2017 ◽  
Vol 69 (2) ◽  
pp. 84
Author(s):  
F. Gediz ◽  
A.F. Yilmaz ◽  
B. Payzin ◽  
T. Yuksel ◽  
A.O. Calli ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Hodgkin Lymphoma ◽  
Female Patient ◽  
Unknown Etiology ◽  
Systemic Diseases ◽  
Granulomatous Disease ◽  
Hilar Lymphadenopathy ◽  
Bilateral Hilar Lymphadenopathy ◽  
Eye Lesions

Sarcoidosis is a chronic granulomatous disease of unknown etiology characterized by non-caseified granulomas in many different organs and systems. The disease most frequently manifests with bilateral hilar lymphadenopathy and infiltrations in the lungs and skin, as well as with eye lesions. It may mimic a number of systemic diseases and/or accompany them. The development of lymphoma in patients with sarcoidosis or the co-occurrence of both diseases is rarely reported in the literature. In this paper we report a female patient followed up with sarcoidosis for three years who developed Hodgkin lymphoma, according to the results of the investigations and biopsy results.

scholarly journals Rhinoscleroma – A case report with review of literature

2021 ◽  
Vol 6 (3) ◽  
pp. 245-248
Author(s):  
Shushruta Mohanty ◽  
Meenakshi Mohapatro ◽  
Lipika Behera ◽  
Swetambari Acharya ◽  
Swayamprava Pradhan
Keyword(s):  
Case Report ◽  
Nasal Cavity ◽  
Chronic Granulomatous Disease ◽  
Female Patient ◽  
Middle Ear ◽  
Granulomatous Disease ◽  
Review Of Literature ◽  
Middle Aged ◽  
Gram Negative

Rhinoscleroma is a chronic granulomatous disease caused by gram negative rod shaped bacteria Klebsiella rhinoscleromatis. Most common sites of predilection include the nasal cavity and nasopharynx, but there are reports of its occurrence at other sites like the larynx, trachea, bronchi, middle ear, and orbit. We are reporting here a case of rhinoscleroma in a middle aged female patient involving the nasal cavity along with a brief review of literature.

scholarly journals Glucose-6-phosphate dehydrogenase Aveiro: a de novo mutation associated with chronic nonspherocytic hemolytic anemia

Blood ◽  
2000 ◽  
Vol 95 (4) ◽  
pp. 1499-1501 ◽  
Author(s):  
Elı́sio Costa ◽  
José Manuel Cabeda ◽  
Emilia Vieira ◽  
Rui Pinto ◽  
Susana Aires Pereira ◽  
...  
Keyword(s):  
De Novo ◽  
Clinical Phenotype ◽  
Class I ◽  
De Novo Mutation ◽  
Dimer Interface ◽  
New Class ◽  
Disease Cluster ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Exon 10 ◽  
Lesion Class

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked enzyme abnormality. The clinical phenotype is variable but often predictable from the molecular lesion. Class I variants (the most severe forms of the disease) cluster within exon 10, in a region that, at the protein level, is believed to be involved in dimerization. Here we describe a de novo mutation (C269Y) of a new class I variant (G6PD Aveiro) that maps to exon 8. Mutant and normal alleles were found in both hematopoietic and buccal cells, indicating the presence of mosaicism. The available model of the protein predicts that this lesion lies in proximity to the dimer interface of the molecule. A possible mechanism to explain the severity of the defect is proposed.

Identification of a carrier mother of a female patient with chronic granulomatous disease

1976 ◽  
Vol 89 (5) ◽  
pp. 784-786 ◽  
Author(s):  
Sumio Miyazaki ◽  
Hiroyuki Shin ◽  
Nagahide Goya ◽  
Akira Nakagawara
Keyword(s):  
Chronic Granulomatous Disease ◽  
Female Patient ◽  
Granulomatous Disease ◽  
Carrier Mother
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