IGLL1 Human
Description
Role in B-Cell Development
IGLL1 partners with the μ heavy chain to form the pre-B cell receptor (pre-BCR), essential for:
Mutations in IGLL1 disrupt pre-BCR signaling, leading to arrested B-cell development and agammaglobulinemia-2 (OMIM: 613500), characterized by absent B cells and severely reduced antibodies .
Clinical Spectrum and Recent Research Findings
A 2024 multinational study (n=17) revealed novel insights into IGLL1-associated deficiencies :
| Parameter | Findings |
|---|---|
| B-cell count | <0.1×10⁹/L at diagnosis, but residual immunoglobulin production observed |
| Phenotypic variability | Ranged from agammaglobulinemia to transient hypogammaglobulinemia |
| Vaccine responses | Impaired in infancy, improving with age in some patients |
| Treatment outcomes | 2 patients discontinued IgG substitution without infection recurrence |
| Incidence | 1.3:100,000 in screened populations (Austria, Czechia, Switzerland) |
This challenges prior assumptions of uniform severity, suggesting milder forms may be underdiagnosed .
Recombinant IGLL1 and Research Applications
ProSpec Bio’s recombinant IGLL1 (Catalog #PRO-1390) is widely used in immunological studies :
| Specification | Detail |
|---|---|
| Expression system | E. coli |
| Purity | >85% (SDS-PAGE) |
| Formulation | 20 mM Tris-HCl (pH 8.0), 0.4 M urea, 10% glycerol |
| Stability | -20°C long-term; 4°C for short-term use |
This reagent facilitates investigations into pre-BCR signaling mechanisms and mutation-specific functional assays .
Therapeutic Implications
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IgG replacement therapy remains standard for agammaglobulinemia .
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Emerging evidence suggests some patients may achieve immune reconstitution, warranting personalized treatment protocols .
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Gene therapy approaches are theoretical but unexplored due to the rarity of cases .
Unresolved Research Questions
Product Specs
Product Science Overview
IGLL1 is a part of the surrogate light chain of the pre-B cell receptor complex. The pre-B cell receptor is found on the surface of pro-B and pre-B cells, where it is involved in several critical processes:
- Signal Transduction: It helps in the transduction of signals necessary for cellular proliferation and differentiation from the pro-B cell to the pre-B cell stage .
- Allelic Exclusion: It ensures allelic exclusion at the immunoglobulin heavy chain gene locus, which is vital for the proper functioning of B-cells .
- Gene Rearrangement: It promotes the rearrangement of immunoglobulin light chain genes .
The IGLL1 gene does not undergo rearrangement, which is a unique feature compared to other immunoglobulin genes . Mutations in this gene can lead to significant clinical conditions, such as:
- B Cell Deficiency: A lack of functional B-cells can result in a compromised immune system .
- Agammaglobulinemia: This is an autosomal recessive disease characterized by the absence or severe reduction of gamma globulins or antibodies in the blood . Patients with this condition are highly susceptible to infections.
Recombinant forms of IGLL1 are used in research to study its role in B-cell development and related immune functions. Understanding the mechanisms involving IGLL1 can provide insights into immune deficiencies and potential therapeutic targets for related diseases.
