Paula and Bobby
Parents of Lillie
What is Reticular Dysgenesia?
Reticular Dysgenesia is a rare disease. It is also known as Aleukocytosis Congenital Aleukia De Vaal Disease Deafness - Scid - Adenylate Kinase 2 Deficiency Hematopoietic Hypoplasia, Generalized Reticular Dysgenesia Severe Combined Immunodeficiency With Leukopenia.
Reicular dysgenesis is characterised by the histological findings of scanty cells in the primary and secondary lymphohematopoietic organs, which highlights the reticular tissue framework (Lagresle-Peyrou et al., 2009). Clinically, there is profound neutropenia and T cell and natural killer lymphopenia. Bone marrow examination shows a profound block in granulopoiesis. Deafness is a feature (AK2 is present in the lumen of the stria vascularis capillaries in the ear). Mutations were found in AK2.
* This information is courtesy of the L M D.
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What gene changes cause Reticular Dysgenesia?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 267500 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
AK2 - 1p35.1
What are the main symptoms of Reticular Dysgenesia?
The typical symptoms of the syndrome are:
Autosomal recessive inheritance, Skin rash, Otitis media, Recurrent respiratory infections, Weight loss, Sepsis, Skin ulcer, Severe combined immunodeficiency, Aplasia/Hypoplasia of the thymus, Abnormality of the thymus, Cellular immunodeficiency, Lack of T cell function, Abnormality of temperature regulation, Abnormality of neutrophils, Abnormality of mitochondrial metabolism, Leukopenia, Lymphopenia, Diarrhea, Anemia, Dehydration, Congenital agranulocytosis, Hearing impairment, Malabsorption, Decreased circulating antibody level
How does someone get tested for Reticular Dysgenesia?
The initial testing for Reticular Dysgenesia can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
What is FDNA Telehealth?
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