Reticular dysgenesis: Difference between revisions
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{{Short description|A rare genetic disorder affecting the immune system}} | {{Short description|A rare genetic disorder affecting the immune system}} | ||
{{Infobox medical condition (new) | |||
| name = Reticular dysgenesis | |||
| synonyms = AK2 deficiency, Congenital aleukocytosis, De Vaal disease, Generalized hematopoietic hypoplasia, SCID with leukopenia | |||
| image = Autosomal recessive - en.svg | |||
| alt = | |||
| caption = Reticular dysgenesis is inherited in an autosomal recessive manner | |||
| pronounce = | |||
| field = [[Immunology]], [[Hematology]], [[Medical genetics]] | |||
| symptoms = Severe combined immunodeficiency, profound neutropenia, sensorineural deafness, failure to thrive | |||
| complications = Life-threatening infections, sepsis, hearing loss | |||
| onset = At birth or within the first few weeks of life | |||
| duration = Lifelong without treatment | |||
| types = A form of [[Severe combined immunodeficiency]] (SCID) | |||
| causes = Mutations in the ''AK2'' gene affecting mitochondrial energy metabolism in hematopoietic stem cells | |||
| risks = Autosomal recessive inheritance; consanguinity | |||
| diagnosis = [[Newborn screening]], [[flow cytometry]], [[genetic testing]], [[bone marrow biopsy]] | |||
| differential = Other forms of SCID, congenital neutropenia, hematopoietic disorders | |||
| prevention = Genetic counseling for at-risk families | |||
| treatment = [[Hematopoietic stem cell transplantation]] (HSCT) | |||
| medication = Prophylactic antibiotics, antifungals, and antiviral agents; [[immunoglobulin therapy]] | |||
| prognosis = Poor without treatment; significantly improved outcomes with early HSCT | |||
| frequency = Very rare | |||
| deaths = High mortality rate without early diagnosis and transplantation | |||
}} | |||
'''Reticular dysgenesis''' is a rare and severe form of [[severe combined immunodeficiency]] (SCID), characterized by the absence of both [[lymphocytes]] and [[granulocytes]], leading to a profound immunodeficiency. It is considered one of the most severe forms of SCID due to the lack of both adaptive and innate immune responses. | '''Reticular dysgenesis''' is a rare and severe form of [[severe combined immunodeficiency]] (SCID), characterized by the absence of both [[lymphocytes]] and [[granulocytes]], leading to a profound immunodeficiency. It is considered one of the most severe forms of SCID due to the lack of both adaptive and innate immune responses. | ||
Latest revision as of 15:15, 24 March 2025
A rare genetic disorder affecting the immune system
| Reticular dysgenesis | |
|---|---|
| |
| Synonyms | AK2 deficiency, Congenital aleukocytosis, De Vaal disease, Generalized hematopoietic hypoplasia, SCID with leukopenia |
| Pronounce | |
| Field | Immunology, Hematology, Medical genetics |
| Symptoms | Severe combined immunodeficiency, profound neutropenia, sensorineural deafness, failure to thrive |
| Complications | Life-threatening infections, sepsis, hearing loss |
| Onset | At birth or within the first few weeks of life |
| Duration | Lifelong without treatment |
| Types | A form of Severe combined immunodeficiency (SCID) |
| Causes | Mutations in the AK2 gene affecting mitochondrial energy metabolism in hematopoietic stem cells |
| Risks | Autosomal recessive inheritance; consanguinity |
| Diagnosis | Newborn screening, flow cytometry, genetic testing, bone marrow biopsy |
| Differential diagnosis | Other forms of SCID, congenital neutropenia, hematopoietic disorders |
| Prevention | Genetic counseling for at-risk families |
| Treatment | Hematopoietic stem cell transplantation (HSCT) |
| Medication | Prophylactic antibiotics, antifungals, and antiviral agents; immunoglobulin therapy |
| Prognosis | Poor without treatment; significantly improved outcomes with early HSCT |
| Frequency | Very rare |
| Deaths | High mortality rate without early diagnosis and transplantation |
Reticular dysgenesis is a rare and severe form of severe combined immunodeficiency (SCID), characterized by the absence of both lymphocytes and granulocytes, leading to a profound immunodeficiency. It is considered one of the most severe forms of SCID due to the lack of both adaptive and innate immune responses.
Pathophysiology[edit]
Reticular dysgenesis is caused by mutations in the AK2 gene, which is located on chromosome 1. The AK2 gene encodes the adenylate kinase 2 enzyme, which is crucial for energy metabolism in cells, particularly in the mitochondria. The deficiency of this enzyme affects the development of hematopoietic stem cells, leading to the failure of myeloid and lymphoid cell lineages.
Clinical Presentation[edit]
Patients with reticular dysgenesis typically present in the neonatal period with severe infections, failure to thrive, and neutropenia. The absence of neutrophils and lymphocytes results in an inability to mount an effective immune response, making affected individuals highly susceptible to bacterial, viral, and fungal infections.
Diagnosis[edit]
The diagnosis of reticular dysgenesis is based on clinical presentation, laboratory findings, and genetic testing. Laboratory tests reveal severe lymphopenia and neutropenia. Genetic testing can confirm mutations in the AK2 gene, which is diagnostic of the condition.
Treatment[edit]
The primary treatment for reticular dysgenesis is hematopoietic stem cell transplantation (HSCT), which can restore immune function. Prior to transplantation, patients may require supportive care, including antibiotics, antifungals, and immunoglobulin replacement therapy.
Prognosis[edit]
Without treatment, reticular dysgenesis is fatal in infancy due to overwhelming infections. However, with successful hematopoietic stem cell transplantation, long-term survival is possible, and immune function can be restored.
