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Disease Profile
Bare lymphocyte syndrome 2
Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Infancy
ICD-10
D81.7
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Bare lymphocyte syndrome type 2; BLS 2; Severe combined immunodeficiency, HLA class ii-negative;
Categories
Congenital and Genetic Diseases; Digestive Diseases; Immune System Diseases
Summary
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 572
Definition
A rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood.
Visit the Orphanet disease page for more resources.
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names |
Learn More:
HPO ID
|
|---|---|---|
| 100% of people have these symptoms | ||
| Reduced MHC II surface expression | 0031390 | |
| 80%-99% of people have these symptoms | ||
| Lack of T |
0005354 | |
| Recurrent infection of the gastrointestinal tract |
Recurrent gastrointestinal infections
|
0004798 |
| Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 |
| 30%-79% of people have these symptoms | ||
| Chronic hepatitis due to cryptosporidium infection | 0200124 | |
| Chronic mucocutaneous candidiasis | 0002728 | |
| Decreased circulating beta-2-microglobulin level | 0025347 | |
| Decreased proportion of CD4-positive helper T cells | 0005407 | |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
| Protracted diarrhea | 0004385 | |
| Recurrent candida infections | 0005401 | |
| Recurrent herpes |
Susceptibility to herpesvirus
|
0005353 |
| Recurrent protozoan infections | 0005386 | |
| Recurrent Staphylococcus aureus infections | 0002726 | |
| Rhinitis |
Nasal inflammation
|
0012384 |
| Sclerosing cholangitis | 0030991 | |
| Sinusitis |
Sinus inflammation
|
0000246 |
| 5%-29% of people have these symptoms | ||
| Abnormal CD4:CD8 ratio | 0031394 | |
| Acute otitis media |
Acute middle ear infection
|
0000371 |
| Autoimmune |
0001890 | |
| Autoimmune |
0001973 | |
| Decreased |
0031381 | |
| Neutropenia in presence of anti-neutropil |
0001904 | |
| Pancytopenia |
Low blood cell count
|
0001876 |
| Panhypogammaglobulinemia | 0003139 | |
| Skin rash | 0000988 | |
| 1%-4% of people have these symptoms | ||
| Abnormal facial shape |
Unusual facial appearance
|
0001999 |
|
Difficulty articulating speech
|
0001260 | |
| Gait |
Inability to coordinate movements when walking
|
0002066 |
| Percent of people who have these symptoms is not available through HPO | ||
| Agammaglobulinemia | 0004432 | |
| 0000007 | ||
| Cholangitis |
Bile duct inflammation
|
0030151 |
| Chronic lymphocytic |
0007041 | |
| Colitis | 0002583 | |
| Cutaneous anergy | 0002965 | |
| Encephalitis |
Brain inflammation
|
0002383 |
| Malabsorption |
Intestinal malabsorption
|
0002024 |
| Neutropenia |
Low blood neutrophil count
Low neutrophil count
[ more ] |
0001875 |
| Recurrent bacterial infections |
Bacterial infections, recurrent
Frequent bacterial infections
Increased susceptibility to bacterial infections
Recurrent major bacterial infections
[ more ] |
0002718 |
| Recurrent fungal infections | 0002841 | |
| Recurrent lower respiratory tract infections |
Recurrent chest infections
|
0002783 |
| Recurrent upper respiratory tract infections |
Recurrent colds
|
0002788 |
| Recurrent urinary tract infections |
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent
[ more ] |
0000010 |
| Recurrent viral infections | 0004429 | |
| Villous atrophy | 0011473 | |
| Viral hepatitis | 0006562 | |
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Bare lymphocyte syndrome 2. Click on the link to view a sample search on this topic.