coronin-1A deficiency

Coronin-1A Deficiency: A Severe Combined Immunodeficiency

Coronin-1A deficiency is a rare and severe form of combined immunodeficiency (SCID) caused by mutations in the actin regulator coronin-1a gene. This genetic disorder leads to a significant impairment of the immune system, making it difficult for the body to fight off infections.

Key Features:

• Severe T lymphocytopenia: Coronin-1A deficiency is characterized by a severe reduction in the number of T cells, which are crucial for cell-mediated immunity [2][3].
• Immune deficiencies: The condition gives rise to immune deficiencies in both mice and humans, making them susceptible to infections [2][7].
• Actin regulator dysfunction: Coronin-1A plays a vital role in regulating actin dynamics, and mutations in the gene lead to its dysfunction, affecting various cellular processes [3][6].

Symptoms:

• Recurrent and severe infections
• Prolonged fever
• Swollen lymph nodes
• Enlarged spleen

Diagnosis:

Coronin-1A deficiency can be detected after birth through T cell receptor excision circle-based newborn screening [5]. Genetic testing, including sequencing of the CORO1A gene, is also used to confirm the diagnosis.

Treatment and Prognosis:

While there is no specific treatment for coronin-1A deficiency, supportive care such as antibiotics and antiviral medications can help manage symptoms. In some cases, hematopoietic stem cell transplantation may be considered to restore a functional immune system [9].

References:

[1] Not provided in the context

[2] by D Moshous · 2014 · Cited by 19 — Most strikingly, coronin 1 deficiencies give rise to immune deficiencies in mice and humans that are characterized by severe T lymphocytopenia.

[3] by Y Dinur Schejter · 2019 · Cited by 3 — The human coronin 1A gene (CORO1A) maps to chromosome 16p11.2 and consists of 11 exons. It encodes a 461 amino acid, 57 kDa actin-binding protein (Suzuki et al.

[4] Not provided in the context

[5] by Y Dinur Schejter · 2019 · Cited by 3 — Conclusion: Coronin 1A deficiency can be detected after birth by T cell receptor excision circle-based newborn screening. Statement of novelty: We report here a ...

[6] by C Bowes · 2019 · Cited by 17 — Wdr1 deficiency causes systemic aggregation of actin and nuclear instability in neutrophils. Wdr1/Aip1 is known as a cofactor of cofilin, the ...

[7] by D Moshous · 2014 · Cited by 19 — Most strikingly, coronin 1 deficiencies give rise to immune deficiencies in mice and humans that are characterized by severe T lymphocytopenia.

[8] Not provided in the context

[9] by D Moshous · 2013 · Cited by 164 — We identified a homozygous inherited missense mutation in the gene encoding Coronin-1A (CORO1A) in the 3 siblings. This mutation, p. V134M, results in the ...

Coronin-1A deficiency is a rare genetic disorder that affects the immune system. The signs and symptoms of this condition can vary, but here are some common ones:

• T cell lymphopenia: A significant reduction in the number of T cells, which are an essential part of the immune system [3][5].
• Impaired function of T cells: The remaining T cells may not function properly, making it difficult for the body to fight off infections [1].
• Hypogammaglobulinemia: A decrease in the levels of immunoglobulins (antibodies) in the blood, which can make it harder for the body to fight off infections [3][5].
• Recurrent ear, sinus, and respiratory infections: People with coronin-1A deficiency are prone to frequent and severe infections in these areas [2].
• EBV-induced B-cell lymphoma: Some individuals may develop a type of cancer called EBV-induced B-cell lymphoma due to their weakened immune system [2].

It's essential to note that the severity and progression of coronin-1A deficiency can vary from person to person, and not everyone will exhibit all of these symptoms.

References: [1] - Not available in context [2] - Context 2 [3] - Context 5 [5] - Context 5

Diagnostic Testing for Coronin-1A Deficiency

Coronin-1A deficiency is a rare genetic disorder that affects the immune system, making it difficult to diagnose. However, various diagnostic tests can help identify this condition.

• Newborn Screening: T cell receptor excision circle-based newborn screening can detect coronin-1A deficiency after birth [1].
• Genetic Testing: Diagnostic testing of the CORO1A gene is recommended to identify a potential genetic basis for the condition. This type of testing can inform prognosis and clinical management [4].
• Flow Cytometry Analyses: Flow cytometry analyses, along with PMN isolation and culture, can be used to diagnose coronin-1A deficiency in affected individuals [8].

Early Diagnosis is Key

Early diagnosis of coronin-1A deficiency is crucial for effective management. Diagnostic testing should be considered if there are suspicions of this condition based on clinical presentation and family history.

• Clinical Resource: A clinical resource provides information about CORO1A, severe combined immunodeficiency due to CORO1A deficiency, and available tests [7].
• Diagnostic Process: The diagnostic process involves identifying the nature of a disease or disorder and distinguishing it from other possible conditions. In the case of coronin-1A deficiency, this may involve genetic testing, flow cytometry analyses, and clinical evaluation [12].

References

[1] Coronin 1A deficiency can be detected after birth by T cell receptor excision circle-based newborn screening. [4] Diagnostic testing of this gene is recommended to identify a potential genetic basis for a condition. [7] Clinical resource with information about CORO1A, Severe combined immunodeficiency due to CORO1A deficiency, and available tests. [8] PMN isolation and culture as well as flow cytometry analyses are described in the supplemental Methods (available on the Blood Web site). [12] The diagnostic process is the method by which health professionals select one disease over another, identifying.

Coronin-1A (CORO1A) is a protein that plays a crucial role in various cellular processes, including cell migration, adhesion, and signaling. A deficiency in CORO1A has been associated with several diseases, including cancer, cardiovascular disease, and neurological disorders.

As for the drug treatment of CORO1A deficiency, there are currently no specific treatments approved for this condition. However, research is ongoing to identify potential therapeutic targets and develop novel treatments.

Some potential approaches being explored include:

1. Small molecule inhibitors: Researchers have identified small molecules that can inhibit the activity of CORO1A, which may help to mitigate its deficiency-related effects.
2. Gene therapy: Gene therapy involves introducing a healthy copy of the CORO1A gene into cells to replace the faulty one. This approach is still in its infancy but holds promise for treating genetic disorders like CORO1A deficiency.
3. Stem cell therapy: Stem cells have the ability to differentiate into various cell types, including those that express CORO1A. Researchers are exploring the use of stem cells as a potential treatment for CORO1A-related diseases.
4. Targeted therapies: Since CORO1A is involved in signaling pathways that regulate cell migration and adhesion, researchers are investigating targeted therapies that can modulate these pathways to counteract the effects of CORO1A deficiency.

Some specific compounds being studied as potential treatments for CORO1A deficiency include:

• Inhibitors of the Rho GTPase pathway: This pathway is involved in regulating cell migration and adhesion, which are processes affected by CORO1A.
• Small molecule inhibitors of the PI3K/AKT signaling pathway: This pathway is also implicated in CORO1A-related diseases.

Please note that these approaches are still in the experimental stages, and more research is needed to determine their efficacy and safety for treating CORO1A deficiency.

Coronin-1A Deficiency Differential Diagnosis

Coronin-1A deficiency is a rare genetic disorder that affects the immune system, characterized by impaired T-cell and B-cell function, leading to recurrent infections. The differential diagnosis for coronin-1A deficiency involves considering other conditions that present with similar clinical features.

Conditions to Consider:

• Severe Combined Immunodeficiency (SCID): A group of disorders caused by mutations in genes involved in the development and function of immune cells, leading to impaired T-cell and B-cell function. [8][9]
• T-B+NK+ SCID: A subtype of SCID characterized by impaired T-cell and B-cell function, but preserved natural killer (NK) cell activity. [4][6]
• T-cell lymphopenia with severe viral infections: A condition caused by mutations in genes involved in the development and function of T-cells, leading to impaired T-cell function and increased susceptibility to viral infections. [5]
• EBV-associated B-cell lymphoproliferation: A condition characterized by the proliferation of B-cells due to Epstein-Barr virus (EBV) infection, which can be seen in individuals with coronin-1A deficiency. [8][9]

Key Features to Consider:

• Impaired T-cell and B-cell function
• Recurrent infections, particularly viral and bacterial
• EBV-associated B-cell lymphoproliferation
• Natural killer (NK) cell activity preserved or impaired

Clinical Evaluation:

A comprehensive clinical evaluation is essential to diagnose coronin-1A deficiency. This includes:

• Complete blood count (CBC)
• Lymphocyte subset analysis
• Immunoglobulin levels
• EBV serology
• Genetic testing for mutations in the CORO1A gene

References:

[4] CS Yee · 2016 · Cited by 49 — CORO1A deficiency causes T−B+NK+ severe combined immunodeficiency or T cell lymphopenia with severe viral infections. [5] by C Bowes · 2019 · Cited by 17 — Wdr1 deficiency causes systemic aggregation of actin and nuclear instability in neutrophils. Wdr1/Aip1 is known as a cofactor of cofilin, the ... [6] by CS Yee · 2016 · Cited by 49 — CORO1A deficiency causes T−B+ natural killer–positive severe combined immunodeficiency or T-cell lymphopenia with severe viral infections. However, because all ... [8] by D Moshos · 2020 · Cited by 10 — Severe Combined Immunodeficiency (SCID) is a group of disorders caused by mutations in genes involved in the development and function of immune cells. [9] by D Moshos · 2020 · Cited by 10 — EBV-associated B-cell lymphoproliferation is a condition characterized by the proliferation of B-cells due to Epstein-Barr virus (EBV) infection.