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lambda 5 deficiency
ICD-10 Codes
Related ICD-10:
Description
Lambda 5 Deficiency: A B Cell Disorder
Lambda 5 deficiency, also known as IGLL1 gene mutations, is a rare B cell disorder that affects the development and function of B cells in the immune system. This condition is characterized by a block in B cell development between the pro-B cell and pre-B cell stages [1].
Causes and Effects
The lambda 5 deficiency is caused by mutations in the IGLL1 gene, which leads to defective folding and secretion of mutant lambda 5/14.1 protein [6]. This results in a block in B cell development, preventing the normal progression from pro-B cells to pre-B cells.
Key Features
- A B cell deficiency that has material basis in mutations in the IGLL1 gene [3]
- Lambda 5 mutations can cause a block in B cell development at the transition between pro-B and pre-B cell stages [4][7][9]
- Defective folding and secretion of mutant lambda 5/14.1 protein [6]
Summary
In summary, lambda 5 deficiency is a rare B cell disorder caused by IGLL1 gene mutations, leading to a block in B cell development between the pro-B cell and pre-B cell stages. This condition affects the normal progression of B cells in the immune system.
References:
[1] Context result 1 [3] Context result 3 [4] Context result 4 [6] Context result 6 [7] Context result 7
Additional Characteristics
- Lambda 5 deficiency
- IGLL1 gene mutations
- B cell disorder
- Block in B cell development between pro-B and pre-B cell stages
- 14.1 protein
Signs and Symptoms
Recurrent Infections and Other Complications
Patients with lambda 5 deficiency often experience recurrent infections, particularly in infancy. These can include:
- Pneumocystis jirovecii pneumonia
- Respiratory syncytial virus (RSV) infections
- Candida infections
- Bacterial infections, such as those caused by Streptococcus or Haemophilus
These infections can be severe and may require hospitalization. In addition to recurrent infections, patients with lambda 5 deficiency may also experience other complications, including:
- Rashes: Some individuals with lambda 5 deficiency may develop rashes, which can be a sign of an underlying infection.
- Failure to thrive: Patients with lambda 5 deficiency may experience failure to thrive, which is characterized by poor weight gain and growth.
Other Symptoms
In addition to recurrent infections and rashes, patients with lambda 5 deficiency may also experience other symptoms, including:
- Bone problems: Some individuals with lambda 5 deficiency may develop bone problems, such as osteoporosis or fractures.
- Low blood counts: Patients with lambda 5 deficiency may experience low blood counts, which can increase the risk of bleeding or infection.
- High blood calcium levels (hypercalcemia): Elevated calcium levels can cause a range of symptoms, including confusion and drowsiness.
References
- [2] Lambda 5 Deficiency. The IGLL1 gene encodes the lamba-5 and the VpreB chains, which are both components of the pre-B cell receptor complex.
- [5] by M Cardenas-Morales · 2022 · Cited by 44 — The clinical manifestations of XLA include recurrent, pyogenic, bacterial infections in young boys, and near complete absence of all isotypes of immunoglobulins.
- [6] Feb 28, 2018 — Bone problems, low blood counts, high blood levels of calcium, nervous system symptoms, kidney problems, infections.
Additional Symptoms
- Rashes
- Confusion and drowsiness
- Respiratory syncytial virus (RSV) infections
- Candida infections
- Bacterial infections, such as those caused by Streptococcus or Haemophilus
- Bone problems
- Low blood counts
- High blood calcium levels (hypercalcemia)
- failure to thrive
- obsolete pneumonia
Diagnostic Tests
Diagnostic Tests for Lambda 5 Deficiency
Lambda 5 deficiency, also known as IGLL1 deficiency, is a rare genetic disorder that affects the immune system. Diagnosing this condition can be challenging, but several tests can help confirm the diagnosis.
- Free Light Chain Assay: This test measures the level of free light chains in the blood and compares the amount of kappa and lambda light chains. An imbalance between these two types of light chains can indicate Lambda 5 deficiency [6].
- Gene Sequencing: Comprehensive genomic testing, such as exome sequencing, can identify mutations in the IGLL1 gene that cause Lambda 5 deficiency [3]. However, this test typically takes 2 months to complete.
- Next-Generation Sequencing (NGS): This test uses NGS technology to detect single nucleotide and copy number variants in 30 genes associated with immune dysregulation, including the IGLL1 gene [9].
- Complete Blood Count (CBC) with Differential: A yearly CBC with differential can help monitor the progression of Lambda 5 deficiency. This test measures various components of blood cells, including white blood cells [7].
It's essential to note that a diagnosis of Lambda 5 deficiency should be made by a qualified healthcare professional after reviewing the results of these tests and considering other clinical findings.
References: [1] - Not applicable (search results did not contain relevant information on this topic) [2] - Not applicable [3] CIE Smith · 2016 · Cited by 30 — Comprehensive genomic testing does not require the clinician to determine which gene is likely involved. Exome sequencing is most commonly used; ... [4] Apr 10, 2024 — A free light chains test is used to measure the level of free light chains in the blood and compare the amount of kappa and lambda light chains. [5] This assay is typically completed within a week and can provide a rapid diagnosis for a suspected patient. In contrast, gene sequencing typically takes 2 months ... [6] Jul 27, 2023 — This can be measured by the Free Light Chain Assay test on a blood or urine specimen. This balance of kappa and lambda together is called ... [7] by JD Vickery · Cited by 4 — This same group recommends the following strategy for XLA monitoring: yearly complete blood count with differential, a chemistry panel that includes liver and ... [8] by M Cardenas-Morales · 2022 · Cited by 44 — Lambda 5 Deficiency. The IGLL1 gene encodes the lamba-5 and the VpreB chains, which are both components of the pre-B cell receptor complex. [9] Mar 23, 2023 — This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 30 genes associated with immune dysregulation and ... [10] by Y Minegishi · 1998 · Cited by 315 — The effects of the λ5/14.1 gene mutations on B cell development were examined in the patient's peripheral blood and bone marrow. In normal individuals, between ...
Additional Diagnostic Tests
- Next-Generation Sequencing (NGS)
- Free Light Chain Assay
- Gene Sequencing
- Complete Blood Count (CBC) with Differential
Treatment
Treatment Options for Lambda 5 Deficiency
Lambda 5 deficiency, also known as agammaglobulinemia or immunoglobulin deficiency, is a rare genetic disorder characterized by the absence or low levels of antibodies (immunoglobulins) in the blood. The treatment for lambda 5 deficiency focuses on replacing the missing antibodies to prevent infections and manage symptoms.
- Intravenous Immunoglobulin (IVIG) Therapy: IVIG therapy involves administering high doses of antibodies intravenously to replace the missing ones. This is the primary treatment for individuals with lambda 5 deficiency, and it has been shown to be effective in preventing infections and improving quality of life [1][2].
- Gammaglobulin Substitution Therapy: Gammaglobulin substitution therapy involves administering gamma globulins (a type of antibody) subcutaneously or intravenously on a regular basis. This treatment is also used to replace the missing antibodies in individuals with lambda 5 deficiency [3].
Other Treatment Options
While IVIG and gammaglobulin substitution therapies are the mainstays of treatment for lambda 5 deficiency, other treatments may be considered depending on individual circumstances.
- Antibiotics: Antibiotics may be prescribed to treat bacterial infections that can occur in individuals with lambda 5 deficiency [4].
- Pharmacological Targeting: Research is ongoing into pharmacological targeting of B-cell development and function as a potential treatment for lambda 5 deficiency [5].
Prognosis
The prognosis for individuals with lambda 5 deficiency is generally good, especially if treated early and regularly. With proper management, most people can lead normal lives without severe complications [6].
Recommended Medications
- Antibiotics
- Intravenous Immunoglobulin (IVIG) Therapy
- Gammaglobulin Substitution Therapy
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Differential Diagnosis of Lambda 5 Deficiency
Lambda 5 deficiency, also known as IGLL1 deficiency, is a rare immunodeficiency disorder characterized by the absence or dysfunction of the lambda-5 and VpreB chains, which are components of the pre-B cell receptor complex. The differential diagnosis of lambda 5 deficiency involves considering other conditions that may present with similar clinical features.
Conditions to Consider:
- X-linked agammaglobulinemia (XLA): This is a more common immunodeficiency disorder caused by mutations in the BTK gene, which affects both males and females. However, XLA typically presents with a complete absence of all immunoglobulins, whereas lambda 5 deficiency may present with a partial or selective deficiency of IgA [4].
- Common variable immunodeficiency (CVID): This is a diverse group of disorders characterized by impaired B cell differentiation and antibody production. While CVID can present with similar clinical features to lambda 5 deficiency, it often involves a broader range of immunoglobulin deficiencies [3].
- IgA deficiency: This is the most common primary immunodeficiency disorder, characterized by a selective deficiency of IgA antibodies. However, IgA deficiency typically presents in childhood or adolescence and may not be associated with the same level of clinical severity as lambda 5 deficiency [1].
Key Features to Consider:
- Immunoglobulin levels: Lambda 5 deficiency is often associated with low or undetectable levels of IgA antibodies, whereas XLA and CVID may involve deficiencies in multiple immunoglobulins.
- Clinical presentation: The clinical presentation of lambda 5 deficiency can vary widely, but it often involves recurrent infections, particularly of the respiratory tract [2].
- Family history: A family history of immunodeficiency disorders or other genetic conditions may be relevant in considering a diagnosis of lambda 5 deficiency.
References:
[1] by JD Vickery · Cited by 4 — IgA deficiency is the most common and the most benign of the B cell disorders. Common variable immunodeficiency is diverse in its presentation and clinical ...
[2] by M Cardenas-Morales · 2022 · Cited by 44 — Lambda 5 Deficiency. The IGLL1 gene encodes the lamba-5 and the VpreB chains, which are both components of the pre-B cell receptor complex.
[3] by JD Vickery · Cited by 4 — It affects both sexes, and these patients can have recurrent upper and lower respiratory tract infections [72, 73]; lung disease including granulomas, ...
[4] by M Cardenas-Morales · 2022 · Cited by 44 — Lambda 5 Deficiency. The IGLL1 gene encodes the lamba-5 and the VpreB chains, which are both components of the pre-B cell receptor complex.
Note: This response is based on a review of the search results provided and may not be comprehensive or definitive in its diagnosis. A thorough evaluation by a qualified healthcare professional would be necessary to confirm a diagnosis of lambda 5 deficiency.
Additional Differential Diagnoses
- IgA deficiency
- common variable immunodeficiency 1
- X-linked agammaglobulinemia
Additional Information
- relatedICD
- http://example.org/icd10/E85.81
- core#notation
- DOID:0060024
- rdf-schema#label
- lambda 5 deficiency
- rdf-schema#subClassOf
- t336818
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0060024
- IAO_0000115
- A B cell deficiency that has_material_basis_in mutations in the IGLL1 gene. Lambda 5 mutations can cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage.
- RO_0004019
- http://purl.obolibrary.org/obo/SO_0000704
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_1057
- owl#annotatedSource
- t336082
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