Rare Infectious Disease News

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.

Unknown

Age of onset

Infancy

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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.
orphanet

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 cell function
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 hemolytic anemia
0001890
Autoimmune thrombocytopenia
0001973
Decreased lymphocyte proliferation in response to mitogen
0031381
Neutropenia in presence of anti-neutropil antibodies
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
Dysarthria
Difficulty articulating speech
0001260
Gait ataxia
Inability to coordinate movements when walking
0002066
Percent of people who have these symptoms is not available through HPO
Agammaglobulinemia
0004432
Autosomal recessive inheritance
0000007
Cholangitis
Bile duct inflammation
0030151
Chronic lymphocytic meningitis
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.