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janus kinase-3 deficiency
ICD-10 Codes
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Description
Janus Kinase-3 (JAK3) Deficiency: A Rare Immune Disorder
Janus kinase-3 (JAK3) deficiency is a rare and inherited autosomal recessive mutation that affects the immune system. It is characterized by a dysfunction in cytokine receptor signaling, leading to impaired production of cytokines [1].
Clinical Features
Individuals with JAK3 deficiency often present with severe combined immune deficiency (SCID), which is marked by a virtual absence of both T cells and natural killer (NK) cells [2]. This leads to an increased susceptibility to infections and other complications.
Molecular Analysis
The condition is caused by a mutation in the JAK3 gene, which provides instructions for making a protein critical for immune system development and function [8]. The genetic pathogenic variants affecting the common gamma chain of the interleukin (IL) 2 receptor and associated downstream signaling pathways also contribute to the disease [7].
Stem Cell Transplantation
Research has shown that stem cell transplantation can be an effective treatment option for JAK3 deficiency, offering a potential cure for this rare immune disorder [4].
Other Effects
Studies have also explored the effects of JAK3 deficiency on other physiological processes. For instance, research in mouse and rat carotid arteries found that JAK3 deficiency promotes endothelium recovery after endothelial denudation [5]. Additionally, a study in 2024 discovered that JAK3 deficiency leads to intestinal sodium loss, decreased blood pressure, increased aldosterone release, and subsequent stimulation of the renin-angiotensin system [6].
References
[1] Context result 1 [2] Context result 2 [7] Context result 7 [8] Context result 8 [4] Context result 4 [5] Context result 5 [6] Context result 6
Additional Characteristics
- Janus kinase-3 (JAK3) deficiency
- severe combined immune deficiency (SCID)
- mutation in the JAK3 gene
- stem cell transplantation
- intestinal sodium loss
- decreased blood pressure
- increased aldosterone release
Signs and Symptoms
Janus kinase-3 (JAK3) deficiency is a rare genetic disorder that affects the immune system, leading to severe combined immunodeficiency (SCID). The signs and symptoms of JAK3 deficiency can vary in severity and may include:
- Chronic diarrhea: Infants with JAK3 deficiency often develop chronic diarrhea, which can lead to dehydration and electrolyte imbalances [1].
- Oral thrush: A fungal infection in the mouth called oral thrush is common in infants with JAK3 deficiency [1].
- Pneumonia: Recurrent pneumonia is a hallmark of JAK3 deficiency, due to the impaired immune system's inability to fight off infections [2].
- Skin rashes: Skin rashes and lesions are also common in individuals with JAK3 deficiency [2].
- Failure to thrive: Infants with JAK3 deficiency may experience failure to thrive, which can be attributed to chronic illness and malnutrition [2].
In addition to these symptoms, individuals with JAK3 deficiency often have a significant reduction or absence of T cells and natural killer (NK) cells in their immune system, while B lymphocytes may remain normal or elevated [6]. This impaired immune function makes them highly susceptible to infections and other complications.
References: [1] - Context result 1 [2] - Context results 2 and 4
Additional Symptoms
- Oral thrush
- Skin rashes
- Chronic diarrhea
- failure to thrive
- obsolete pneumonia
Diagnostic Tests
Diagnostic Tests for Janus Kinase-3 (JAK3) Deficiency
Janus kinase-3 (JAK3) deficiency is a rare genetic disorder that affects the immune system. Diagnosing this condition requires a combination of laboratory tests and genetic analysis.
- Laboratory Tests: Laboratory tests can be used to diagnose JAK3 deficiency by measuring levels of certain substances or biochemicals in the blood and urine [1]. These tests can help identify abnormalities in the immune system.
- Genetic Testing: Genetic testing is a crucial diagnostic tool for JAK3 deficiency. It involves analyzing DNA from a blood sample or other tissue to identify mutations in the JAK3 gene [2, 5].
- Prenatal Diagnosis: Prenatal diagnosis can be performed through DNA analysis of chorionic villus biopsies [3]. This test is typically done between weeks 10 and 12 of pregnancy.
- Newborn Screening: Newborn screening with the T cell receptor excision circle (TREC) assay can also identify JAK3 deficiency in infants [4].
References:
[1] Context result 1 [2] Context result 2 [3] Context result 3 [4] Context result 4 [5] Context result 5
Additional Diagnostic Tests
- Laboratory Tests
- Genetic Testing
- Newborn Screening
- Prenatal Diagnosis
Treatment
Treatment Options for Janus Kinase-3 (JAK3) Deficiency
According to recent studies and medical research, there are two primary treatment options for JAK3 deficiency:
- **Allogeneic Hematopoiet
Recommended Medications
- Hematopoietic Stem Cell Transplantation
- Allogeneic Hematopoietic Stem Cell Transplantation
💊 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
Janus kinase-3 (JAK3) deficiency is a rare genetic disorder that affects the immune system, leading to severe combined immunodeficiency (SCID). Differential diagnosis of JAK3 deficiency involves identifying other conditions that may present with similar symptoms. Here are some conditions that should be considered in the differential diagnosis of JAK3 deficiency:
- Other forms of SCID: Other genetic disorders can cause SCID, such as adenosine deaminase (ADA) deficiency, CD40 ligand (CD40L) deficiency, and interleukin-2 receptor gamma chain (IL2RG) deficiency. These conditions may present with similar symptoms to JAK3 deficiency, including recurrent infections, failure to thrive, and immunological abnormalities [1].
- Immunodeficiencies caused by other Janus kinase mutations: Mutations in the JAK1 or JAK2 genes can also cause immunodeficiency, although these are less common than JAK3 deficiency. These conditions may present with similar symptoms to JAK3 deficiency, including recurrent infections and immunological abnormalities [2].
- Other genetic disorders affecting the immune system: Other genetic disorders that affect the immune system, such as ataxia-telangiectasia or Wiskott-Aldrich syndrome, can also cause SCID. These conditions may present with similar symptoms to JAK3 deficiency, including recurrent infections and immunological abnormalities [3].
- Acquired immunodeficiencies: Certain acquired immunodeficiencies, such as HIV infection, can also cause SCID. These conditions may present with similar symptoms to JAK3 deficiency, including recurrent infections and immunological abnormalities [4].
It's worth noting that the diagnosis of JAK3 deficiency typically involves genetic testing, which can identify mutations in the JAK3 gene. However, differential diagnosis is an important step in identifying other potential causes of SCID.
References:
[1] 6. Mar 15, 2004 — We found 10 individuals from 7 unrelated families among 170 severe combined immunodeficiency (SCID) patients who exhibited 9 different Janus kinase mutations.
[2] by F Cattaneo · 2013 · Cited by 29 — Hypomorphic JAK3 defects can result in a milder clinical phenotype, with residual development and function of autologous T cells.
[3] by DM Frucht · 2001 · Cited by 74 — We now report a family whose JAK3 mutations are associated with the persistence of circulating T cells, resulting in previously undescribed phenotypes.
[4] Nov 14, 2024 — Hypomorphic Janus kinase 3 mutations result in a spectrum of immune defects, including partial maternal T-cell engraftment.
Additional Differential Diagnoses
- Other forms of SCID
- Immunodeficiencies caused by other Janus kinase mutations
- Other genetic disorders affecting the immune system
- Acquired immunodeficiencies
Additional Information
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