M193 UNEXPECTED DIAGNOSIS OF X-LINKED CHRONIC GRANULOMATOUS DISEASE IN A MIDDLE-AGED FEMALE CARRIER

2021 ◽  
Vol 127 (5) ◽  
pp. S106
Author(s):  
Z. Wang ◽  
W. Tang ◽  
G. Sheng ◽  
R. Kachru
Keyword(s):  
Chronic Granulomatous Disease ◽  
Female Carrier ◽  
Granulomatous Disease ◽  
Middle Aged

scholarly journals Macrophage activation syndrome/haemophagocytic lymphohistiocytosis secondary to Burkholderia cepacia complex septicaemia in an elderly female carrier of X-linked chronic granulomatous disease with extreme lyonisation: ‘cepacia syndrome’ revisited

2019 ◽  
Vol 12 (8) ◽  
pp. e230434 ◽  
Author(s):  
Nicolás Urriola ◽  
Andrew Williams ◽  
Karuna Keat
Keyword(s):  
Chronic Granulomatous Disease ◽  
Burkholderia Cepacia ◽  
Macrophage Activation Syndrome ◽  
Macrophage Activation ◽  
Burkholderia Cepacia Complex ◽  
Female Carrier ◽  
Granulomatous Disease ◽  
Haemophagocytic Lymphohistiocytosis ◽  
Stimulating Factor ◽  
Activation Syndrome

X-linked carriers of chronic granulomatous disease (CGD) may become phenotypically affected if substantial skewing from lyonisation occurs. We describe a 73-year-old female carrier with an overt CGD phenotype due to skewed lyonisation, complicated by macrophage activation syndrome (MAS)/haemophagocytic lymphohistiocytosis (HLH) secondary to Burkholderiacepacia complex septicaemia that was successfully treated with a combination of three antibiotics, an antifungal, granulocyte colony stimulating factor, intravenous immune globulin (IVIG) and ciclosporin. Fully phenotypic immunodeficiency is possible in X-linked CGD carriers when skewed lyonisation occurs, rendering such patients to all the same sequelae of CGD such as MAS/HLH. MAS/HLH should be thoroughly excluded when evaluating ‘cepacia syndrome’ in non-CGD patients.

scholarly journals Late-Onset of Chronic Granulomatous Disease Revealed By Paecilomyces Lilacinus Cutaneous Infection

2021 ◽  
Author(s):  
Clément Lemaigre ◽  
Felipe Suarez ◽  
Jean-Philippe Martellosio ◽  
Cindy Barbarin ◽  
Kevin Brunet ◽  
...  
Keyword(s):  
Nadph Oxidase ◽  
Chronic Granulomatous Disease ◽  
Oxidase Activity ◽  
Late Onset ◽  
Asymptomatic Carrier ◽  
Clinical Manifestations ◽  
Female Carrier ◽  
Granulomatous Disease ◽  
Nadph Oxidase Activity ◽  
Inherited Immunodeficiency

Abstract Chronic granulomatous disease (CGD) is an inherited immunodeficiency due to defective leukocyte NADPH responsible for recurrent infections and aberrant inflammation. Mutations in the CYBB gene are responsible for the X-linked CGD and account for approximately 70% of the cases. CGD is diagnosed during childhood in males. Female carriers may have biased X inactivation and may present with clinical manifestations depending on the level of residual NADPH oxidase activity. We report the case of a previously asymptomatic female carrier who was diagnosed at age 67 with a skin infection with the rare fungus, Paecylomyces lilacinus as the first manifestation of CGD. Dihydrorhodamin 123 (DHR) activity was below 10%. Next-generation sequencing (NGS) revealed mutations in DNMT3A, ASXL1, and STAG2 suggesting that clonal hematopoiesis of undetermined potential (CHIP) could be responsible for a progressive loss of NADPH oxidase activity and the late onset of X-linked CGD in this patient. Long-term follow-up of asymptomatic carrier women seems to be essential after 50 years old.

scholarly journals Pneumocystis jirovecii Pneumonia in a X-linked Chronic Granulomatous Disease Female Carrier

IDCases ◽  
2021 ◽  
pp. e01323
Author(s):  
Vasiliki Kalotychou ◽  
Demetrios Mermigkis ◽  
Maria G Kanariou ◽  
Marianna Tzanoudaki ◽  
Vaso Georgakopoulou ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Pneumocystis Jirovecii ◽  
Pneumocystis Jirovecii Pneumonia ◽  
Female Carrier ◽  
Granulomatous Disease

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.

X-linked chronic granulomatous disease in a female carrier with novel pathogenic mutation and skewed X-inactivation

2018 ◽  
Vol 120 (3) ◽  
pp. 328-329
Author(s):  
Joana Barroso Amaral ◽  
Artur Augusto Paiva ◽  
Fabiana Viana Ramos ◽  
Marie José Stasia ◽  
Sónia Gaspar Lemos
Keyword(s):  
Chronic Granulomatous Disease ◽  
Pathogenic Mutation ◽  
X Inactivation ◽  
Female Carrier ◽  
Granulomatous Disease ◽  
Skewed X Inactivation

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 Late Onset of Chronic Granulomatous Disease Revealed by Paecilomyces lilacinus Cutaneous Infection

2021 ◽  
Author(s):  
Clément Lemaigre ◽  
Felipe Suarez ◽  
Jean-Philippe Martellosio ◽  
Cindy Barbarin ◽  
Kévin Brunet ◽  
...  
Keyword(s):  
Nadph Oxidase ◽  
Chronic Granulomatous Disease ◽  
Oxidase Activity ◽  
Late Onset ◽  
Asymptomatic Carrier ◽  
Clinical Manifestations ◽  
Paecilomyces Lilacinus ◽  
Female Carrier ◽  
Granulomatous Disease ◽  
Nadph Oxidase Activity

AbstractChronic granulomatous disease (CGD) is an inherited immunodeficiency due to defective leukocyte NADPH responsible for recurrent infections and aberrant inflammation. Mutations in the CYBB gene are responsible for the X-linked CGD and account for approximately 70% of the cases. CGD is diagnosed during childhood in males. Female carriers may have biased X-inactivation and may present with clinical manifestations depending on the level of residual NADPH oxidase activity. We report the case of a previously asymptomatic female carrier who was diagnosed at age 67 with a skin infection with the rare fungus Paecilomyces lilacinus as the first manifestation of CGD. Dihydrorhodamine 123 (DHR) activity was below 10%. Next-generation sequencing (NGS) revealed mutations in DNMT3A, ASXL1, and STAG2 suggesting that clonal hematopoiesis could be responsible for a progressive loss of NADPH oxidase activity and the late onset of X-linked CGD in this patient. Long-term follow-up of asymptomatic carrier women seems to be essential after 50 years old.

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