An X-Linked Hyper-IgM Patient Followed Successfully for 23 Years without Hematopoietic Stem Cell Transplantation
When caring for patients with life-limiting diseases, improving survival and optimizing quality of life are the primary goals. For patients with X-linked hyper-IgM syndrome (XHIGM), the treatment modality has to be decided for a particular patient regarding hematopoietic stem cell transplantation or...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2018-01-01
|
| Series: | Case Reports in Immunology |
| Online Access: | http://dx.doi.org/10.1155/2018/6897935 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832555891691356160 |
|---|---|
| author | Necil Kutukculer Neslihan Edeer Karaca Guzide Aksu Ayca Aykut Erhan Pariltay Ozgur Cogulu |
| author_facet | Necil Kutukculer Neslihan Edeer Karaca Guzide Aksu Ayca Aykut Erhan Pariltay Ozgur Cogulu |
| author_sort | Necil Kutukculer |
| collection | DOAJ |
| description | When caring for patients with life-limiting diseases, improving survival and optimizing quality of life are the primary goals. For patients with X-linked hyper-IgM syndrome (XHIGM), the treatment modality has to be decided for a particular patient regarding hematopoietic stem cell transplantation or intravenous immunoglobulin replacement therapy with P. jiroveci prophylaxis. A seven-year-old male patient was admitted with recurrent upper and lower respiratory tract infections and recurrent otitis media. His initial immunologic evaluation revealed low IgG and normal IgA and IgM levels with normal lymphocyte phenotyping and inadequate specific antibody responses. He was diagnosed as common variable immunodeficiency and began to receive intravenous immunoglobulin (IVIG) (0.5 gm/kg) with four-week intervals. During follow-up for 23 years under IVIG therapy, he was extremely well and never had severe infections. In 2017, targeted next generation sequencing was performed in order to understand his molecular pathology. A previously described hemizygous c.31C>T(p.Arg11Ter) mutation was found in CD40LG gene. The mother was heterozygous carrier for this mutation and his sister did not have any mutation. Flow cytometric analysis for CD40LG expression on activated T cells showed highly decreased, but not absent, CD40LG expression. In conclusion, diagnostic delay is a clinical problem for patients with CD40LG deficiency, because of low or normal IgM levels, showing that all the hypogammaglobulinemic patients, not only with high serum IgM levels, but also with normal to low IgM levels, have to be examined for CD40LG expression on activated T lymphocytes. Secondly, type of CD40LG mutations leads to enormous interpatient variations regarding serum IgM levels, CD40LG levels on activated T cells, age at diagnosis, severity of clinical findings, and follow-up therapies with or without hematopoietic stem cell therapy. |
| format | Article |
| id | doaj-art-ed6b246a55e540279e39bafcad0fa081 |
| institution | Kabale University |
| issn | 2090-6609 2090-6617 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Immunology |
| spelling | doaj-art-ed6b246a55e540279e39bafcad0fa0812025-02-03T05:46:56ZengWileyCase Reports in Immunology2090-66092090-66172018-01-01201810.1155/2018/68979356897935An X-Linked Hyper-IgM Patient Followed Successfully for 23 Years without Hematopoietic Stem Cell TransplantationNecil Kutukculer0Neslihan Edeer Karaca1Guzide Aksu2Ayca Aykut3Erhan Pariltay4Ozgur Cogulu5Ege University Faculty of Medicine, Department of Pediatric Immunology, Izmir, TurkeyEge University Faculty of Medicine, Department of Pediatric Immunology, Izmir, TurkeyEge University Faculty of Medicine, Department of Pediatric Immunology, Izmir, TurkeyEge University Faculty of Medicine, Department of Medical Genetics, Izmir, TurkeyEge University Faculty of Medicine, Department of Medical Genetics, Izmir, TurkeyEge University Faculty of Medicine, Department of Medical Genetics, Izmir, TurkeyWhen caring for patients with life-limiting diseases, improving survival and optimizing quality of life are the primary goals. For patients with X-linked hyper-IgM syndrome (XHIGM), the treatment modality has to be decided for a particular patient regarding hematopoietic stem cell transplantation or intravenous immunoglobulin replacement therapy with P. jiroveci prophylaxis. A seven-year-old male patient was admitted with recurrent upper and lower respiratory tract infections and recurrent otitis media. His initial immunologic evaluation revealed low IgG and normal IgA and IgM levels with normal lymphocyte phenotyping and inadequate specific antibody responses. He was diagnosed as common variable immunodeficiency and began to receive intravenous immunoglobulin (IVIG) (0.5 gm/kg) with four-week intervals. During follow-up for 23 years under IVIG therapy, he was extremely well and never had severe infections. In 2017, targeted next generation sequencing was performed in order to understand his molecular pathology. A previously described hemizygous c.31C>T(p.Arg11Ter) mutation was found in CD40LG gene. The mother was heterozygous carrier for this mutation and his sister did not have any mutation. Flow cytometric analysis for CD40LG expression on activated T cells showed highly decreased, but not absent, CD40LG expression. In conclusion, diagnostic delay is a clinical problem for patients with CD40LG deficiency, because of low or normal IgM levels, showing that all the hypogammaglobulinemic patients, not only with high serum IgM levels, but also with normal to low IgM levels, have to be examined for CD40LG expression on activated T lymphocytes. Secondly, type of CD40LG mutations leads to enormous interpatient variations regarding serum IgM levels, CD40LG levels on activated T cells, age at diagnosis, severity of clinical findings, and follow-up therapies with or without hematopoietic stem cell therapy.http://dx.doi.org/10.1155/2018/6897935 |
| spellingShingle | Necil Kutukculer Neslihan Edeer Karaca Guzide Aksu Ayca Aykut Erhan Pariltay Ozgur Cogulu An X-Linked Hyper-IgM Patient Followed Successfully for 23 Years without Hematopoietic Stem Cell Transplantation Case Reports in Immunology |
| title | An X-Linked Hyper-IgM Patient Followed Successfully for 23 Years without Hematopoietic Stem Cell Transplantation |
| title_full | An X-Linked Hyper-IgM Patient Followed Successfully for 23 Years without Hematopoietic Stem Cell Transplantation |
| title_fullStr | An X-Linked Hyper-IgM Patient Followed Successfully for 23 Years without Hematopoietic Stem Cell Transplantation |
| title_full_unstemmed | An X-Linked Hyper-IgM Patient Followed Successfully for 23 Years without Hematopoietic Stem Cell Transplantation |
| title_short | An X-Linked Hyper-IgM Patient Followed Successfully for 23 Years without Hematopoietic Stem Cell Transplantation |
| title_sort | x linked hyper igm patient followed successfully for 23 years without hematopoietic stem cell transplantation |
| url | http://dx.doi.org/10.1155/2018/6897935 |
| work_keys_str_mv | AT necilkutukculer anxlinkedhyperigmpatientfollowedsuccessfullyfor23yearswithouthematopoieticstemcelltransplantation AT neslihanedeerkaraca anxlinkedhyperigmpatientfollowedsuccessfullyfor23yearswithouthematopoieticstemcelltransplantation AT guzideaksu anxlinkedhyperigmpatientfollowedsuccessfullyfor23yearswithouthematopoieticstemcelltransplantation AT aycaaykut anxlinkedhyperigmpatientfollowedsuccessfullyfor23yearswithouthematopoieticstemcelltransplantation AT erhanpariltay anxlinkedhyperigmpatientfollowedsuccessfullyfor23yearswithouthematopoieticstemcelltransplantation AT ozgurcogulu anxlinkedhyperigmpatientfollowedsuccessfullyfor23yearswithouthematopoieticstemcelltransplantation AT necilkutukculer xlinkedhyperigmpatientfollowedsuccessfullyfor23yearswithouthematopoieticstemcelltransplantation AT neslihanedeerkaraca xlinkedhyperigmpatientfollowedsuccessfullyfor23yearswithouthematopoieticstemcelltransplantation AT guzideaksu xlinkedhyperigmpatientfollowedsuccessfullyfor23yearswithouthematopoieticstemcelltransplantation AT aycaaykut xlinkedhyperigmpatientfollowedsuccessfullyfor23yearswithouthematopoieticstemcelltransplantation AT erhanpariltay xlinkedhyperigmpatientfollowedsuccessfullyfor23yearswithouthematopoieticstemcelltransplantation AT ozgurcogulu xlinkedhyperigmpatientfollowedsuccessfullyfor23yearswithouthematopoieticstemcelltransplantation |