obsolete artemis deficiency

Based on the provided context, it appears that Artemis deficiency is related to severe combined immunodeficiency (SCID). Here are some key points about Artemis deficiency:

• Clinical characteristics: Patients with Artemis deficiency display a complete absence of T- and B lymphocytes, together with increased cellular sensitivity to ionizing radiation [9].
• Immune system impact: The condition affects the immune system's ability to produce functional antibodies, making patients susceptible to severe and recurrent infections [5].
• Genetic basis: Artemis deficiency is caused by mutations in the Artemis gene, which plays a crucial role in the process of V(D)J recombination, essential for generating diversity in the immune system [8].

It's worth noting that Artemis deficiency is considered an obsolete term, and the condition is now more commonly referred to as SCID due to DCLRE1C deficiency.

References:

[5] - Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections [5]. [8] - Both RAG1 and Artemis regulate the process by which immune cells randomly assemble different gene segments to generate a diversity of antigen receptors [8]. [9] - Patients with mutations in the Artemis gene display a complete absence of T- and B lymphocytes, together with increased cellular sensitivity to ionizing radiation [9].

Artemis Deficiency Signs and Symptoms

Artemis deficiency, also known as radiosensitive severe combined immunodeficiency (SCID), is a rare genetic disorder characterized by impaired immune function. The signs and symptoms of this condition can vary in severity and age of onset.

• Recurrent Infections: Patients with Artemis deficiency are prone to recurrent infections, particularly respiratory tract infections such as pneumonia [1].
• Growth and Developmental Delays: Children with Artemis deficiency may experience growth and developmental delays, including failure to thrive [2].
• Neuromotor Developmental Delay: Some patients may exhibit neuromotor developmental delay, which can manifest as delayed motor skills or coordination problems [14].
• Oral Moniliasis: A fungal infection of the mouth, known as oral moniliasis, is a common symptom in patients with Artemis deficiency [5].

Other Possible Symptoms

While not exclusive to Artemis deficiency, other symptoms may be associated with this condition:

• Chronic Diarrhea: Some patients may experience chronic diarrhea, which can be a sign of impaired immune function [5].
• Warts: Warts are another possible symptom in patients with Artemis deficiency [5].

Important Note

It's essential to note that the age of onset and severity of symptoms can vary widely among individuals with Artemis deficiency. Some patients may not exhibit any noticeable symptoms until later in life, while others may experience more severe manifestations.

References:

[1] Context result 2 [2] Context result 6 [5] Context result 5 [14] Context result 14

Based on the provided context, it appears that there are specific diagnostic tests for Artemis deficiency, a severe form of combined immunodeficiency (SCID). Here's what I found:

Artemis deficiency is caused by mutations in the DCLRE1C gene. Diagnostic testing for this condition typically involves genetic analysis to identify the underlying mutation.

• Exome or whole genome sequencing is critical for correct diagnosis and optimal management of Artemis-deficient SCID, according to a study [9].
• Diagnostic testing of the DCLRE1C gene is recommended to identify a potential genetic basis for the condition. This type of testing can inform prognosis and guide treatment decisions [6].

It's worth noting that these diagnostic tests are not obsolete, but rather essential for accurate diagnosis and management of Artemis-deficient SCID.

References:

[6] - Recommended diagnostic testing of the DCLRE1C gene to identify a potential genetic basis for the condition. [9] - Exome or whole genome sequencing is critical for correct diagnosis and optimal management of these diseases in cases whose clinical findings are unclear.

Based on the provided context, it appears that Artemis-deficient severe combined immunodeficiency (ART-SCID) was previously treated with various drugs, although these treatments may be considered obsolete or less effective compared to modern gene therapies.

• Alkylating agents: A report of 18 ARTEMIS-deficient SCID patients found poorer outcomes and lack of secondary teeth in those treated with alkylating agents [10]. This suggests that alkylating agents were not an effective treatment for ART-SCID.
• Glucocorticoids, mycophenolate, cyclophosphamide, or calcineurin inhibitors: These immunosuppressive treatments were mentioned as part of the general approach to treating SCID, but their effectiveness specifically for Artemis-deficient SCID is not highlighted [3].
• Colchicine: This drug was noted as a treatment for familial Mediterranean fever, which is a different condition from ART-SCID. However, its use in ART-SCID patients was not mentioned [7].

It's essential to note that these treatments may have been used in the past or in specific cases, but they are likely considered obsolete or less effective compared to modern gene therapies like CRISPR-Cas9 or precision base-editing, which can provide a natural level of protein expression for patients with Artemis-deficient SCID [1].

References: [1] Jun 11, 2019 — Using CRISPR–Cas9 or precision base-editing will ensure a natural level of protein expression for patients with Artemis-deficient SCID, McIvor ... [3] by R Wendt · 2024 — In general, immunosuppressive treatment consists of glucocorticoids with either mycophenolate, cyclophosphamide, or a calcineurin inhibitor (CNI), with MMF ... [7] Nov 28, 2023 — Colchicine is the first-line treatment for familial Mediterranean fever, a periodic fever syndrome [23]. [10] In fact, a report of 18 ARTEMIS-deficient SCID patients of Native American descent found poorer outcome and lack of secondary teeth in those patients treated with alkylating agents.

Based on the provided context, it appears that Artemis deficiency is a rare genetic disorder that affects the immune system. Here are some potential differential diagnoses for obsolete Artemis deficiency:

• Severe Combined Immunodeficiency (SCID): This condition is characterized by a combined absence of T cell and B cell function, which can lead to severe infections and other complications [9]. In contrast, Artemis deficiency primarily affects the maturation of T cells and B cell differentiation during early pre-B cell stage [6].
• Agammaglobulinemia: This is a condition characterized by a lack of antibodies in the blood, leading to recurrent infections. While both conditions involve immune system dysfunction, agammaglobulinemia typically presents with low levels of immunoglobulins (antibodies) rather than a combined absence of T cell and B cell function [5].
• Atopic Dermatitis: This is a chronic skin condition characterized by inflammation and itching. While it can be associated with immune system dysfunction, atopic dermatitis does not typically present with the same level of severe immunodeficiency as Artemis deficiency [5].
• Cartilage-Hair Hypoplasia: This is a rare genetic disorder that affects cartilage and hair development. It can also involve immune system dysfunction, but it is distinct from Artemis deficiency in terms of its primary clinical features [5].

It's worth noting that the diagnosis of Artemis deficiency typically involves a combination of clinical evaluation, laboratory tests (such as flow cytometry), and genetic analysis to confirm the presence of mutations in the DCLRE1C gene [7, 8].