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Co-Occurring X-Linked Agammaglobulinemia and X-Linked Chronic Granulomatous Disease: Two Isolated Pathogenic Variants in One Patient

We present a unique and unusual case of a male patient diagnosed with two coexisting and typically unassociated X-linked conditions: he was initially diagnosed with X-linked agammaglobulinemia (XLA) followed by a diagnosis of X-linked chronic granulomatous disease (XCGD) and an as of yet unpublished...

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Autores principales: Gunderman, Lauren, Brown, Jeffrey, Chaudhury, Sonali, O’Gorman, Maurice, Fuleihan, Ramsay, Khanolkar, Aaruni, Ahmed, Aisha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10046124/
https://www.ncbi.nlm.nih.gov/pubmed/36979938
http://dx.doi.org/10.3390/biomedicines11030959
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author Gunderman, Lauren
Brown, Jeffrey
Chaudhury, Sonali
O’Gorman, Maurice
Fuleihan, Ramsay
Khanolkar, Aaruni
Ahmed, Aisha
author_facet Gunderman, Lauren
Brown, Jeffrey
Chaudhury, Sonali
O’Gorman, Maurice
Fuleihan, Ramsay
Khanolkar, Aaruni
Ahmed, Aisha
author_sort Gunderman, Lauren
collection PubMed
description We present a unique and unusual case of a male patient diagnosed with two coexisting and typically unassociated X-linked conditions: he was initially diagnosed with X-linked agammaglobulinemia (XLA) followed by a diagnosis of X-linked chronic granulomatous disease (XCGD) and an as of yet unpublished hypomorphic gp91phox variant in the CYBB gene. The latter was tested after the finding of granulomatous gingivitis. Hematopoietic stem cell transplant (HSCT) was performed due to severe colitis and nodular regenerative hyperplasia (NRH) of the liver. Following transplant, complete donor engraftment was observed with the restoration of a normal oxidative burst and full restoration of normal levels of circulating, mature CD19+ B cells. This case is singular in that it does not involve a contiguous gene syndrome in which deleted genes are in close proximity to either BTK and CYBB, which has been previously reported. To our knowledge, this is the first reported case of XLA and XCGD co-existing in a single patient and of having both inborn errors of immunity successfully treated by HSCT.
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spelling pubmed-100461242023-03-29 Co-Occurring X-Linked Agammaglobulinemia and X-Linked Chronic Granulomatous Disease: Two Isolated Pathogenic Variants in One Patient Gunderman, Lauren Brown, Jeffrey Chaudhury, Sonali O’Gorman, Maurice Fuleihan, Ramsay Khanolkar, Aaruni Ahmed, Aisha Biomedicines Case Report We present a unique and unusual case of a male patient diagnosed with two coexisting and typically unassociated X-linked conditions: he was initially diagnosed with X-linked agammaglobulinemia (XLA) followed by a diagnosis of X-linked chronic granulomatous disease (XCGD) and an as of yet unpublished hypomorphic gp91phox variant in the CYBB gene. The latter was tested after the finding of granulomatous gingivitis. Hematopoietic stem cell transplant (HSCT) was performed due to severe colitis and nodular regenerative hyperplasia (NRH) of the liver. Following transplant, complete donor engraftment was observed with the restoration of a normal oxidative burst and full restoration of normal levels of circulating, mature CD19+ B cells. This case is singular in that it does not involve a contiguous gene syndrome in which deleted genes are in close proximity to either BTK and CYBB, which has been previously reported. To our knowledge, this is the first reported case of XLA and XCGD co-existing in a single patient and of having both inborn errors of immunity successfully treated by HSCT. MDPI 2023-03-21 /pmc/articles/PMC10046124/ /pubmed/36979938 http://dx.doi.org/10.3390/biomedicines11030959 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Gunderman, Lauren
Brown, Jeffrey
Chaudhury, Sonali
O’Gorman, Maurice
Fuleihan, Ramsay
Khanolkar, Aaruni
Ahmed, Aisha
Co-Occurring X-Linked Agammaglobulinemia and X-Linked Chronic Granulomatous Disease: Two Isolated Pathogenic Variants in One Patient
title Co-Occurring X-Linked Agammaglobulinemia and X-Linked Chronic Granulomatous Disease: Two Isolated Pathogenic Variants in One Patient
title_full Co-Occurring X-Linked Agammaglobulinemia and X-Linked Chronic Granulomatous Disease: Two Isolated Pathogenic Variants in One Patient
title_fullStr Co-Occurring X-Linked Agammaglobulinemia and X-Linked Chronic Granulomatous Disease: Two Isolated Pathogenic Variants in One Patient
title_full_unstemmed Co-Occurring X-Linked Agammaglobulinemia and X-Linked Chronic Granulomatous Disease: Two Isolated Pathogenic Variants in One Patient
title_short Co-Occurring X-Linked Agammaglobulinemia and X-Linked Chronic Granulomatous Disease: Two Isolated Pathogenic Variants in One Patient
title_sort co-occurring x-linked agammaglobulinemia and x-linked chronic granulomatous disease: two isolated pathogenic variants in one patient
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10046124/
https://www.ncbi.nlm.nih.gov/pubmed/36979938
http://dx.doi.org/10.3390/biomedicines11030959
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