An X-Linked Hyper-IgM Patient Followed Successfully for 23 Years without Hematopoietic Stem Cell Transplantation
| العنوان: | An X-Linked Hyper-IgM Patient Followed Successfully for 23 Years without Hematopoietic Stem Cell Transplantation |
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| المؤلفون: | Guzide Aksu, Erhan Pariltay, Neslihan Edeer Karaca, Necil Kutukculer, Ayca Aykut, Ozgur Cogulu |
| المساهمون: | Ege Üniversitesi |
| المصدر: | Case Reports in Immunology Case Reports in Immunology, Vol 2018 (2018) |
| بيانات النشر: | Hindawi, 2018. |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | lcsh:Immunologic diseases. Allergy, 0301 basic medicine, Lymphocyte, medicine.medical_treatment, Immunology, Case Report, Hematopoietic stem cell transplantation, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, medicine, Immunology and Allergy, Mutation, biology, Respiratory tract infections, Molecular pathology, business.industry, Common variable immunodeficiency, Hematopoietic stem cell, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, biology.protein, Antibody, lcsh:RC581-607, business, 030215 immunology |
| الوصف: | WOS: 000448707400001 PubMed ID: 30405923 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 (WIG) (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.ArgllTer) mutation was found in CD4OLG 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 serwn IgM levels, CD40LG levels on activated 'F cells, age at diagnosis, severity of clinical findings, and follow-up therapies with or without hematopoietic stem cell therapy. |
| اللغة: | English |
| تدمد: | 2090-6617 2090-6609 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4312c9192bebe448e51acd1d8138688Test http://europepmc.org/articles/PMC6204170Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....e4312c9192bebe448e51acd1d8138688 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 20906617 20906609 |
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