National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Bare lymphocyte syndrome 2



Other Names:
Bare lymphocyte syndrome type 2; BLS 2; Severe combined immunodeficiency, HLA class ii-negative; Bare lymphocyte syndrome type 2; BLS 2; Severe combined immunodeficiency, HLA class ii-negative; SCID, HLA Class 2-Negative See More
Categories:

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.
Last updated: 7/1/2015

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.

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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 dominant inheritance 0000006
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
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources


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.

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