Cargando…
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agammaglobulinemia (XLA) followed by a diagnosis of X-linked chronic granulomatous disease (XCGD) and an as of yet unpublished...
Autores principales: | , , , , , , |
---|---|
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 |
_version_ | 1785013587631144960 |
---|---|
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agammaglobulinemia (XLA) followed by a diagnosis of X-linked chronic granulomatous disease (XCGD) and an as of yet unpublished hypomorphic gp91phox variant in the CYBB gene.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. |
format | Online Article Text |
id | pubmed-10046124 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT gundermanlauren cooccurringxlinkedagammaglobulinemiaandxlinkedchronicgranulomatousdiseasetwoisolatedpathogenicvariantsinonepatient AT brownjeffrey cooccurringxlinkedagammaglobulinemiaandxlinkedchronicgranulomatousdiseasetwoisolatedpathogenicvariantsinonepatient AT chaudhurysonali cooccurringxlinkedagammaglobulinemiaandxlinkedchronicgranulomatousdiseasetwoisolatedpathogenicvariantsinonepatient AT ogormanmaurice cooccurringxlinkedagammaglobulinemiaandxlinkedchronicgranulomatousdiseasetwoisolatedpathogenicvariantsinonepatient AT fuleihanramsay cooccurringxlinkedagammaglobulinemiaandxlinkedchronicgranulomatousdiseasetwoisolatedpathogenicvariantsinonepatient AT khanolkaraaruni cooccurringxlinkedagammaglobulinemiaandxlinkedchronicgranulomatousdiseasetwoisolatedpathogenicvariantsinonepatient AT ahmedaisha cooccurringxlinkedagammaglobulinemiaandxlinkedchronicgranulomatousdiseasetwoisolatedpathogenicvariantsinonepatient |