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MHC class II deficiency

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

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.

Synonyms

  • BARE lymphocyte syndrome
  • BARE lymphocyte syndrome, type II
  • BARE lymphocyte syndrome, type II, complementation group B, included
  • BARE lymphocyte syndrome, type II, complementation group C, included
  • BARE lymphocyte syndrome, type II, complementation group D, included
  • BARE lymphocyte syndrome, type II, complementation group E, included
  • BLS
  • BLS 2
  • BLS type II
  • BLS, type II
  • BLSII
  • Bare lymphocyte syndrome
  • Bare lymphocyte syndrome 2
  • Bare lymphocyte syndrome type 2
  • Bare lymphocyte syndrome, type 2
  • Bare lymphocyte syndrome, type II
  • Bare lymphocyte syndrome, type II, complementation group A
  • Bare lymphocyte syndrome, type II, complementation group B
  • Bare lymphocyte syndrome, type II, complementation group C
  • Bare lymphocyte syndrome, type II, complementation group D
  • Bare lymphocyte syndrome, type II, complementation group E
  • Bls, type 2
  • HLA class 2-negative SCID
  • HLA class 2-negative severe combined immunodeficiency
  • MHC class II expression deficiency
  • SCID due to absent class II HLA antigens
  • SCID, HLA CLASS II-NEGATIVE BARE lymphocyte syndrome, type II, complementation group A, included
  • SCID, HLA Class 2-negative
  • SCID, HLA Class II-negative
  • bare lymphocyte syndrome type II
  • immunodeficiency by defective expression of HLA class 2
  • immunodeficiency by defective expression of HLA class type 2
  • major histocompatibility complex class II expression deficiency
  • severe combined immunodeficiency, HLA Class II-negative
  • severe combined immunodeficiency, HLA class ii-negative
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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