Clinical presentation, immunologic features, and hematopoietic stem cell transplant outcomes for IKBKB immune deficiency
| العنوان: | Clinical presentation, immunologic features, and hematopoietic stem cell transplant outcomes for IKBKB immune deficiency |
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| المؤلفون: | Geoffrey D.E. Cuvelier, Marlis L. Schroeder, Tamar S. Rubin, Roona Sinha, Donna A. Wall, Alan M. Rosenberg, Anne K. Junker |
| المصدر: | Clinical Immunology (Orlando, Fla.) |
| بيانات النشر: | Elsevier Inc., 2018. |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | 0301 basic medicine, Male, Combined Immune Deficiency, RSV, Respiratory Syncytial Virus, medicine.disease_cause, TRECs, T-cell receptor excision circles, Hematopoietic Stem Cell Transplant, Hypogammaglobulinemia, 0302 clinical medicine, Agammaglobulinemia, SCID, Severe combined immune deficiency, Immunology and Allergy, IKBKB, IKKβ (IKK2), Mutation, PHA, Phytohemagglutinin, Hematopoietic Stem Cell Transplantation, Hematopoietic stem cell, Bacterial Infections, Mycobacterium bovis, I-kappa B Kinase, NEMO, Nuclear factor Kappa-B essential modifier, medicine.anatomical_structure, Treatment Outcome, Virus Diseases, Female, CID, Combined Immune Deficiency, Primary Immunodeficiency Diseases, Immunology, Secondary Graft Failure, Article, 03 medical and health sciences, Immune system, BCG, Bacillus Calmette-Guerin, medicine, Humans, Tuberculosis, Lymphocyte Count, CMV, Cytomegalovirus, Newborn screening, Innate immune system, business.industry, Infant, Newborn, Infant, IKKβ, Inhibitor of nuclear factor kappa B kinase subunit beta, medicine.disease, IKK/NF-κB, 030104 developmental biology, Mycoses, TCR, T-cell receptor, Primary immunodeficiency, business, HSCT, Hematopoietic stem cell transplant, HLH, Hemophagocytic Lymphohistiocytosis, 030215 immunology |
| الوصف: | IKBKB immune deficiency is a rare but life-threatening primary immunodeficiency disorder, involving activation defects in adaptive and innate immunity. We present sixteen cases of a homozygous IKBKB mutation (c.1292dupG) in infants characterized by early-onset bacterial, viral, fungal and Mycobacterial infections. In most cases, T- and B-cells were quantitatively normal, but phenotypically naive, with severe hypogammaglobulinemia. T-cell receptor excision circles were normal, meaning newborn screening by TREC analysis would miss IKBKB cases. Although IKBKB immune deficiency does not meet traditional laboratory based definitions for SCID, this combined immune deficiency appears to be at least as profound. Urgent HSCT, performed in eight patients, remains the only known curative therapy, although only three patients are survivors. Ongoing infections after transplant remain a concern, and may be due to combinations of poor social determinants of health, secondary graft failure, and failure of HSCT to replace non-hematopoietic cells important in immune function and dependent upon IKK/NF-κB pathways. |
| اللغة: | English |
| تدمد: | 1521-7035 1521-6616 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e93292a28a33a53c1c5a09e9f0b7020 http://europepmc.org/articles/PMC7106064 |
| Rights: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....8e93292a28a33a53c1c5a09e9f0b7020 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15217035 15216616 |
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