Type I Bare Lymphocyte Syndrome

Also Known As:

Bare Lymphocyte Syndrome, Type I; BLS, Type I; HLA Class I Deficiency

Networked: 9 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Primary Immunodeficiency Diseases: 1189
    - Severe Combined Immunodeficiency: 2749
      - Type I Bare Lymphocyte Syndrome: 9
- Diseases Newborn Infant: 266
  - Severe Combined Immunodeficiency: 2749
    - Type I Bare Lymphocyte Syndrome: 9
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - DNA Repair-Deficiency Disorders: 538
    - Severe Combined Immunodeficiency: 2749
      - Type I Bare Lymphocyte Syndrome: 9
Immune System Diseases: 4321
- Immunologic Deficiency Syndromes: 91
  - Primary Immunodeficiency Diseases: 1189
    - Severe Combined Immunodeficiency: 2749
      - Type I Bare Lymphocyte Syndrome: 9

Related Diseases

1.	Rare Diseases (Rare Disease)
2.	Type I Bare Lymphocyte Syndrome
3.	Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome)
4.	Diffuse panbronchiolitis

Experts

1.	Hanau, D: 2 articles (10/2005 - 06/2002)
2.	Zimmer, J: 2 articles (10/2005 - 06/2002)
3.	de la Salle, H: 2 articles (10/2005 - 06/2002)
4.	Andrès, E: 1 article (10/2005)
5.	Donato, L: 1 article (10/2005)
6.	Hentges, F: 1 article (10/2005)
7.	Asao, Yoji: 1 article (08/2002)
8.	Ishikawa, Yoshihide: 1 article (08/2002)
9.	Juji, Takeo: 1 article (08/2002)
10.	Kashiwase, Koichi: 1 article (08/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Type I Bare Lymphocyte Syndrome:

1.	Peptides (Polypeptides)IBA 01/05/1998 - "Activity and phenotype of natural killer cells in peptide transporter (TAP)-deficient patients (type I bare lymphocyte syndrome)." 06/01/2002 - "Human HLA class I deficiency is a rare disease which, in most of the patients described to date, results from a defect in subunit 1 or 2 of the peptide transporter associated with antigen processing (TAP). "
2.	HLA Antigens (Human Leukocyte Antigens)IBA 03/17/1984 - "The typical form of the Bare Lymphocyte Syndrome type I consists of lack of expression of class I HLA antigens, resulting in combined immunodeficiency. " 10/01/2005 - "Human leukocyte antigen (HLA) class I deficiency is a rare disease with remarkable clinical and biological heterogeneity. "
3.	trypsinogen activation peptideIBA 12/02/1994 - "In the report "Homozygous human TAP peptide transporter mutation in HLA class I deficiency" by H. " 07/08/1994 - "Homozygous human TAP peptide transporter mutation in HLA class I deficiency."
4.	Proteins (Proteins, Gene)FDA Link 03/01/1999 - "Defects in the TAP2 protein have been reported in two families with HLA class I deficiency, the so-called bare lymphocyte syndrome (BLS) type I. We have, to our knowledge, identified for the first time a splice site mutation in the TAP1 gene of another BLS patient. "
5.	Erythromycin (Erycette)FDA LinkGeneric 10/01/2001 - "Prolonged survival of a bare lymphocyte syndrome type I patient with diffuse panbronchiolitis treated with erythromycin."
6.	transporter associated with antigen processing (TAP)IBA 06/01/2002 - "Human HLA class I deficiency is a rare disease which, in most of the patients described to date, results from a defect in subunit 1 or 2 of the peptide transporter associated with antigen processing (TAP). "
7.	tapasinIBA 08/15/2002 - "A subject with a novel type I bare lymphocyte syndrome has tapasin deficiency due to deletion of 4 exons by Alu-mediated recombination."