Abstract
Recurrence of severe microbial infections results from a primary immunodeficiency disorder known as major histocompatibility complex class II deficiency or bare lymphocyte syndrome type II. Immunologic function is severely impaired due to the absence of MHC class II molecules on the surface of immune cells. Here, we report a 5-year-old boy with a novel homozygous mutation in RFXANK gene that negatively affects the proper expression of MHC class II molecules by antigen presenting cells. The frame shift mutations in RFXANK gene and negative HLA-DR proteins expression on peripheral blood mononuclear cells were identified and confirmed by whole exome sequencing, Sanger sequencing, and flow cytometry. The patient was referred with long-term severe prolonged diarrhea, fever, coughing, and vomiting. Also, antibiotic resistance, normal T cell, and NK cell counts with low B cell count and reduced serum immunoglobulin level were observed. The patient did not give a dramatic response to intravenous immunoglobulin infusion. The significancy of this report is the novelty of mutation and low B cell count which is not commonly expected in such patients. The final diagnosis of BLS type II is based on WES, Sanger sequencing, and flow cytometric evaluation. Moreover, it seems that the only therapeutic choice is hematopoietic stem cell transplantation.
Abbreviations
- APCs:
-
Antigen presenting cells
- AR:
-
Autosomal recessive
- CID:
-
Combined immunodeficiency disorder
- CMV:
-
Cytomegalovirus
- HSCT:
-
Hematopoietic stem cell transplantation
- HSV:
-
Herpes simplex virus
- IVIG:
-
Intravenous immunoglobulin
- MHC:
-
Major histocompatibility complex
- PBMCs:
-
Peripheral blood mononuclear cells
- PIDD:
-
Primary immunodeficiency disorder
- WES:
-
Whole exome sequencing
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Acknowledgments
The authors would like to specifically thank the patient, his family, and the clinical staff of Asthma, Allergy and Immune Deficiency Ward of Abuzar Hospital for their valuable cooperation.
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This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.
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Abolnezhadian, F., Dehghani, R., Dehnavi, S. et al. A novel mutation in RFXANK gene and low B cell count in a patient with MHC class II deficiency: a case report. Immunol Res 68, 225–231 (2020). https://doi.org/10.1007/s12026-020-09141-9
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DOI: https://doi.org/10.1007/s12026-020-09141-9