Bare lymphocyte syndrome 2

Title

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:

Congenital and Genetic Diseases; Digestive Diseases; Immune System Diseases

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 572

Disease definition

Immunodeficiency by defective expression of HLA class 2 is 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: 7/13/2015

Symptoms 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.

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Medical Terms	Other Names	Learn More: HPO ID
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
Chronic mucocutaneous candidiasis		0002728
Colitis		0002583
Cutaneous anergy		0002965
Encephalitis	Brain inflammation	0002383
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Malabsorption	Intestinal malabsorption	0002024
Neutropenia	Low blood neutrophil count Low neutrophil count [ more ]	0001875
Panhypogammaglobulinemia		0003139
Protracted diarrhea		0004385
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 protozoan infections		0005386
Recurrent upper respiratory tract infections		0002788
Recurrent urinary tract infections	Frequent urinary tract infections Urinary infection Urinary tract infection Urinary tract infections Urinary tract infections, recurrent [ more ]	0000010
Recurrent viral infections		0004429
Villous atrophy		0011473
Viral hepatitis		0006562

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 12/1/2018

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More 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.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

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