Reticular dysgenesis exacerbated by hemophagocytic lymphohistiocytosis and the presence of unusual histiocyte-like cells in bone marrow
| Autor: | Anju Gupta, Madhubala Sharma, Sreejesh Sreedharaunni, Amit Rawat, Rahul Tyagi, Sathish Kumar Loganathan |
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| Rok vydání: | 2021 |
| Předmět: |
Male
Pathology medicine.medical_specialty Myeloid Biopsy Immunology DNA Mutational Analysis Bone Marrow Cells Severity of Illness Index Lymphohistiocytosis Hemophagocytic Bone Marrow hemic and lymphatic diseases medicine Immunology and Allergy Humans Reticular dysgenesis Histiocyte Hemophagocytic lymphohistiocytosis Severe combined immunodeficiency Hematologic Tests medicine.diagnostic_test business.industry Adenylate Kinase Disease Management Infant Histiocytes Hematology Leukopenia medicine.disease medicine.anatomical_structure Phenotype Mutation Severe Combined Immunodeficiency Bone marrow Disease Susceptibility Hemophagocytosis business Biomarkers |
| Zdroj: | Immunobiology. 226(6) |
| ISSN: | 1878-3279 |
| Popis: | We report a rare case of agranulocytosis and lymphopenia complicated with hemophagocytic lymphohistiocytosis. Diagnosis of reticular dysgenesis was made by detection of a pathogenic stop gain variant in the AK2 gene on targeted next generation sequencing and confirmed by Sanger sequencing. Parents were found to be carriers for this variant. Bone marrow aspirate and biopsy was also performed with a clinical diagnosis of severe combined immunodeficiency with HLH. However, no hemophagocytosis was noted in the bone marrow aspirate or trephine biopsy. Instead, it showed aggregates of large histiocyte-like cells, scattered erythroid precursors and megakaryocytes. These cells were confused to be some form of storage cells, but did not resemble storage cells seen in Gaucher's disease or Niemann Pick disease. Myeloid precursors were very few in number. Reticular dysgenesis was not suspected during admission due to a lack of awareness of this entity. Testing for sensorineural deafness in neonates with severe agranulocytosis and lymphopenia would facilitate an early diagnosis of reticular dysgenesis. To the best of our knowledge, hemophagocytic lymphohistiocytosis has not been previously reported in association with reticular dysgenesis. |
| Databáze: | OpenAIRE |
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