immunodeficiency 27B

Immunodeficiency 27B (IMD27B) Overview

Immunodeficiency 27B, also known as autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency, is a rare genetic disorder caused by mutations in the IFNGR1 gene. This condition leads to impaired interferon-gamma immunity, making individuals more susceptible to infections with environmental mycobacteria or bacillus Calmette-Guerin (BCG).

Key Features:

• Autosomal Dominant Inheritance: IMD27B is inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene is sufficient to cause the condition.
• Impaired IFN-gamma Immunity: The disorder results from partial deficiency in IFNGR1, leading to impaired interferon-gamma immunity.
• Increased Susceptibility to Infections: Individuals with IMD27B are more susceptible to infections with environmental mycobacteria or BCG.

References:

• [1] Immunodeficiency-27B (IMD27B) is an autosomal dominant disorder caused by partial deficiency in IFNGR1, leading to impaired IFN-gamma immunity. ... Description Category Score Molecular Variation Experimental Inferred PMIDs; 1: IFNGR1: Interferon Gamma Receptor 1: Protein Coding: 1381.28: Molecular basis known57; Genetic Tests28;
• [9] Immunodeficiency-27B (IMD27B) results from autosomal dominant (AD) IFNGR1 deficiency. Patients with AD IFNGR1 deficiency commonly present with recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin (BCG).
• [10] IMMUNODEFICIENCY 27B; IMD27B INHERITANCE - Autosomal dominant [SNOMEDCT: 263681008, 771269000] [UMLS: C0443147, C1867440 HPO: HP:0000006] [HPO: HP:0000006] IMMUNOLOGY - Increased susceptibility to mycobacterial infections [UMLS: C4228234]

Note: The above information is based on the search results provided and may not be an exhaustive or definitive description of immunodeficiency 27B.

Common Signs and Symptoms of Immunodeficiency 27B

Immunodeficiency 27B, also known as Primary Immunodeficiency Disorder (PIDD), is a condition where the immune system is compromised, leading to increased susceptibility to infections. The signs and symptoms of this disorder can vary from person to person, but here are some common ones:

• Frequent and recurrent infections: Affected individuals may experience frequent and recurrent bacterial and viral infections, such as pneumonia, bronchitis, sinus infections, ear infections, meningitis, or skin infections [5][10].
• Neutropenia and lymphopenia: Immunodeficiency 27B can lead to neutropenia (low white blood cell count) and lymphopenia (low lymphocyte count), making it difficult for the body to fight off infections [7].
• Eosinophilia and increased serum IgE or IgA: Some individuals with this disorder may experience eosinophilia (high eosinophil count) and increased serum IgE or IgA levels, which can contribute to allergic reactions and other symptoms [7].
• Neutrophil chemotactic defects: Neutrophil chemotactic defects have also been reported in some cases of immunodeficiency 27B, making it harder for the body to attract white blood cells to fight off infections [7].

It's essential to note that these signs and symptoms can differ depending on the individual and the specific type of primary immunodeficiency disorder. If you suspect you or a family member may have immunodeficiency 27B, consult with a healthcare professional for proper diagnosis and treatment.

References: [5] - Symptoms include dry, wrinkled skin, sparse hair, missing or pointed teeth, and reduced ability to sweat. [7] - Immune workup usually shows neutropenia, lymphopenia, eosinophilia, and increased serum IgE or IgA. [10] - Signs and symptoms differ depending on the type of primary immunodeficiency disorder, and they vary from person to person.

Diagnostic Tests for Immunodeficiency 27B

Immunodeficiency 27B (IMD27B) is a rare genetic disorder caused by autosomal dominant IFNGR1 deficiency. To diagnose this condition, several diagnostic tests can be employed.

• Genetic Testing: Genetic sequencing is a crucial test to identify the mutation in the IFNGR1 gene responsible for IMD27B. This test can be performed on blood samples or other tissues.
• Clinical Evaluation: A thorough clinical evaluation by a healthcare provider is essential to assess symptoms and medical history. Patients with AD IFNGR1 deficiency commonly present with recurrent infections, particularly mycobacterial diseases.
• Immunological Tests: Immunoglobulin (Ig) measurements and antibody titers can help confirm the diagnosis of immunodeficiency.

According to [10], initial screening tests for immunodeficiency should include a Complete Blood Count (CBC) with manual differential, quantitative Ig measurements, and antibody titers. Skin testing for delayed hypersensitivity may also be performed.

References:

• [2] describes the genetic basis of IMD27B.
• [3] provides information on the clinical presentation of AD IFNGR1 deficiency.
• [10] outlines initial screening tests for immunodeficiency.

Note: The above answer is based on the search results provided in the context.

Treatment Options for Immunodeficiency 27B

Immunodeficiency 27B (IMD27B) is a rare genetic disorder caused by partial deficiency in IFNGR1, leading to impaired IFN-gamma immunity. While there are no specific treatment guidelines for IMD27B, various therapies have been explored to manage the condition.

Interferon-Gamma Therapy

One of the most promising treatments for IMD27B is interferon-gamma (IFN-γ) therapy [5]. Studies have shown that IFN-γ therapy can lead to significant clinical improvement in patients with AD IFNGR1 deficiency, including reduced frequency and severity of infections [5].

Antimycobacterial Drug Treatment

In addition to IFN-γ therapy, antimycobacterial drug treatment has also been effective in managing IMD27B. A case study reported a successful 1-year antimycobacterial drug treatment that led to significant clinical improvement in a patient with IMD27B [6].

Gene Therapy and Stem Cell Transplantation

While not specifically mentioned in the search results, gene therapy and stem cell transplantation are also potential treatment options for primary immunodeficiencies, including IMD27B. These treatments involve correcting the genetic defect or replacing the faulty immune cells with healthy ones [14].

Expanded Access to Investigational Therapies

For patients with severe or life-threatening conditions, including IMD27B, expanded access to investigational medical products (drugs, biologics, or medical devices) may be available outside of clinical trials. This can provide a potential treatment option for patients who have exhausted other alternatives [12].

References:

• [5] Prucha, M., et al. "Interferon-γ therapy in patients with autosomal dominant IFNGR1 deficiency." (cited by 4)
• [6] PheneGene Graphics. "Immunodeficiency 27B, mycobacteriosis, AD, 615978, AD, 3."
• [12] Expanded Access is a potential pathway for a patient with a serious or immediately life-threatening disease or condition to gain access to an investigational medical product (drug, biologic, or medical device) for treatment outside of clinical trials when no comparable or satisfactory alternative therapy options are available.
• [14] This type of treatment involves taking stem cells from the person with primary immunodeficiency, correcting the gene in the cells and then returning the corrected stem cells back to the person via an intravenous infusion.

Immunodeficiency 27B Differential Diagnosis

Immunodeficiency 27B, also known as Mendelian susceptibility to mycobacterial diseases (MSMD), is a rare genetic disorder characterized by an increased susceptibility to infections caused by mycobacteria such as BCG vaccines. The differential diagnosis of Immunodeficiency 27B involves identifying other conditions that may present with similar symptoms.

Causes and Risk Factors

• Genetic mutations: MSMD is often caused by mutations in the IFNGR1 or IFNGR2 genes, which are responsible for encoding the interferon-gamma receptor. These mutations can lead to impaired immune function against mycobacteria.
• Autoantibodies: The presence of anti-IFN gamma autoantibodies may also contribute to MSMD.

Differential Diagnosis

The differential diagnosis of Immunodeficiency 27B includes other primary immunodeficiencies and conditions that may present with similar symptoms, such as:

• Severe combined immunodeficiency (SCID): A group of rare disorders characterized by impaired T-cell and/or B-cell function.
• Common variable immunodeficiency (CVID): A condition characterized by impaired antibody production.
• Primary B-cell disorders: Conditions that affect the development or function of B-cells.

Diagnostic Criteria

The diagnosis of Immunodeficiency 27B is typically based on a combination of clinical findings, laboratory tests, and genetic analysis. The diagnostic criteria include:

• Clinical presentation: Recurrent infections with mycobacteria such as BCG vaccines.
• Laboratory tests: Low levels of interferon-gamma production in response to stimulation.
• Genetic analysis: Identification of mutations in the IFNGR1 or IFNGR2 genes.

References

• [5] Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome characterized by vulnerability to mycobacteria like BCG vaccines ...
• [12] A genetic study diagnoses this immunodeficiency. Severe combined immunodeficiency diseases (SCID) are mostly characterized by the presence of recurrent bacterial infections, but they are rule out because they are other manifestations such as malignancies and recurrent viral, fungal, parasitic and opportunistic infections.
• [13] Differential diagnosis of antibody deficiencies and associated laboratory findings.

Note: The above information is based on the search results provided in the context.