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immunodeficiency with hyper IgM type 3

ICD-10 Codes

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Description

Immunodeficiency with Hyper-IgM Type 3 (HIGM3): A Rare Syndrome

Immunodeficiency with hyper-IgM type 3, also known as HIGM3, is a rare syndrome characterized by hypogammaglobulinemia with normal or elevated levels of IgM. This condition leads to an increased susceptibility to bacterial infections due to the body's inability to produce sufficient quantities of other immunoglobulins such as IgG, IgA, and IgE.

Key Features:

  • Hypogammaglobulinemia (low levels of antibodies) with normal or elevated IgM levels
  • Increased susceptibility to bacterial infections
  • Absence or decreased levels of IgG, IgA, and IgE
  • Normal or elevated levels of IgM

Causes and Associations:

  • Mutations in the CD40 gene or TNFRSF5 gene can affect B cell maturation and isotype switching, leading to HIGM3.
  • Associated with multiple congenital anomalies-hypotonia-seizures syndrome 3 and cd40 ligand deficiency.

Diagnosis and Testing:

  • Diagnosis includes flow cytometry testing of CD40 ligand expression and genetic testing.
  • Measuring levels of IgM and other immunoglobulins can help confirm the diagnosis.

References:

  • Ferrari et al. (2001) first described HIGM3 in humans [1, 6, 9].
  • OMIM provides a general phenotypic description and discussion of genetic heterogeneity of immunodeficiency with hyper-IgM [from OMIM] [5, 9].

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

Additional Characteristics

  • Immunodeficiency with hyper-IgM type 3
  • Hypogammaglobulinemia with normal or elevated levels of IgM
  • Increased susceptibility to bacterial infections
  • Absence or decreased levels of IgG, IgA, and IgE
  • Normal or elevated levels of IgM

Signs and Symptoms

Common symptoms associated with Hyper IgM syndrome, specifically Type 3 (HIGM3), include:

  • Frequent severe infections, particularly in infancy and early childhood [4]
  • Recurrent upper and lower respiratory tract infections [3]
  • Diarrhea [1]
  • Oral ulcers [7]
  • Lymphoid hyperplasia [7]

Additional symptoms may include:

  • Enlargement of the lymph nodes, tonsils, spleen or liver [6]
  • Hypogammaglobulinemia (low levels of serum IgG, IgA, and IgE) with normal or increased levels of IgM [9]

It's essential to note that these symptoms can vary in severity and may be similar to those seen in individuals with other forms of immunodeficiency.

References:

[1] Dec 13, 2018 — The gastrointestinal system is often involved causing recurrent, prolonged (protracted) diarrhea. [3] The most common problem in all forms of HIGM is an increased susceptibility to infection, including recurrent upper and lower respiratory tract infections. [4] Jun 18, 2024 — Common symptoms are frequent severe infections in infancy and early childhood. [6] What are the signs and symptoms of hyper IGM (CD40L-deficient)? · Frequent, hard to treat infections · Enlargement of the lymph nodes, tonsils, spleen or liver [7] by LD Notarangelo · 1992 · Cited by 498 — The most common clinical manifestations include upper and lower respiratory tract infections, otitis, diarrhoea, oral ulcers, lymphoid hyperplasia, and ... [9] Hyper IgM syndrome is a rare primary immune deficiency disorders characterized by low or absent levels of serum IgG, IgA, IgE and normal or increased levels ...

Additional Symptoms

  • Oral ulcers
  • Hypogammaglobulinemia
  • Frequent severe infections
  • Recurrent upper and lower respiratory tract infections
  • Lymphoid hyperplasia
  • Enlargement of the lymph nodes, tonsils, spleen or liver
  • diarrhea

Diagnostic Tests

Diagnostic Tests for Hyper-IgM Syndrome Type 3

Hyper-IgM syndrome type 3 (HIGM3) is a rare immunodeficiency disorder characterized by decreased levels of immunoglobulins G, A, and E, with normal or elevated levels of immunoglobulin M. The diagnosis of HIGM3 can be challenging, but several diagnostic tests are available to confirm the condition.

  • Genetic Testing: Genetic testing is the most common method for diagnosing HIGM3. This involves analyzing the CD40 gene (20q13.12) using sequence analysis or bi-directional Sanger sequencing [1][2].
  • Flow Cytometry Analysis: Flow cytometry analysis can also be used to diagnose HIGM3. This test typically shows a complete lack of CD40 ligand on activated T-cells [8].

It's worth noting that while these tests can confirm the diagnosis of HIGM3, they may not be 100% accurate. A combination of clinical evaluation and laboratory tests is often necessary to establish a definitive diagnosis.

References:

[1] Clinical Molecular Genetics test for Hyper-IgM syndrome type 3 [2] Clinical Genetic Test offered by Intergen for conditions (1): Hyper-IgM syndrome type 3; Testing genes (1): CD40 (20q13.

Additional Diagnostic Tests

  • Genetic Testing
  • Flow Cytometry Analysis

Treatment

Treatment Options for Hyper IgM Syndrome Type 3

Hyper IgM syndrome type 3, also known as CD40L-deficient hyper IgM syndrome, is a rare primary immunodeficiency characterized by impaired antibody class switching and elevated levels of IgM antibodies. The treatment for this condition typically involves regular immunoglobulin replacement therapy to prevent infections and autoimmune complications.

Immunoglobulin Replacement Therapy

  • This is the standard treatment for individuals with antibody deficiencies, including hyper IgM syndrome type 3 [8].
  • Immunoglobulin (Ig) can be administered intravenously (IVIG) or subcutaneously (SCIG), depending on individual needs and preferences.
  • Regular infusions of Ig can help prevent infections and autoimmune complications associated with this condition.

Other Treatment Options

While immunoglobulin replacement therapy is the primary treatment for hyper IgM syndrome type 3, other options may be considered in certain cases. These include:

  • Precision medicine: With specific drugs targeting altered immune pathways, precision medicine has become a reality [4].
  • Gamma globulin replacement therapy: This can effectively control associated humoral immune abnormalities and IgG/IgA deficiency [5].

Important Considerations

It's essential to note that treatment plans for hyper IgM syndrome type 3 should be tailored to individual needs, taking into account factors such as the severity of symptoms, underlying health conditions, and personal preferences.

Citations:

  • [8]
  • [4]
  • [5]

Recommended Medications

  • Immunoglobulin Replacement Therapy
  • Precision Medicine
  • Gamma Globulin Replacement 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

Based on the provided context, it appears that you are looking for information on the differential diagnosis of immunodeficiency with hyper IgM type 3.

What is Hyper IgM Syndrome?

Hyper IgM syndrome (HIGM) is a rare genetic disorder characterized by elevated levels of Immunoglobulin M (IgM) antibodies and impaired function of other immunoglobulins, such as IgG and IgA. This leads to recurrent infections, particularly those caused by encapsulated bacteria like Streptococcus pneumoniae and Haemophilus influenzae.

Differential Diagnosis

The differential diagnosis for hyper IgM type 3 involves considering various conditions that can present with similar clinical features. Some of these include:

  • CD40 ligand deficiency: This is a genetic disorder caused by mutations in the CD40LG gene, leading to impaired B cell activation and function.
  • Activating CD40 mutations: These are rare genetic disorders characterized by activating mutations in the CD40 gene, resulting in excessive B cell activation and hyper IgM production.
  • Other immunodeficiencies: Conditions like X-linked agammaglobulinemia (XLA), Wiskott-Aldrich syndrome, and severe combined immunodeficiency (SCID) can also present with elevated IgM levels.

Key Features to Consider

When differentiating between these conditions, the following features are important to consider:

  • IgG and IgA levels: Patients with CD40 ligand deficiency typically have low or undetectable levels of IgG and IgA.
  • B cell function: Impaired B cell activation and function are characteristic of CD40 ligand deficiency.
  • Family history: A family history of similar conditions can suggest a genetic etiology.

References

According to search results [12], the differential diagnosis for hyper IgM type 3 involves considering various conditions that can present with similar clinical features. The key features to consider include IgG and IgA levels, B cell function, and family history (Search result [13]). Additionally, CD40 ligand deficiency is a genetic disorder caused by mutations in the CD40LG gene, leading to impaired B cell activation and function (Search result [14]).

Please note that this information is based on the provided context and may not be comprehensive or up-to-date. If you have any further questions or would like more specific information, please let me know!

Additional Differential Diagnoses

  • Activating CD40 mutations
  • Other immunodeficiencies (X-linked agammaglobulinemia, Wiskott-Aldrich syndrome, severe combined immunodeficiency)
  • CD40 ligand deficiency

Additional Information

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immunodeficiency with hyper IgM type 3
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