Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome)

Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. It is inherited as an X-linked or autosomal recessive defect. Mutations occurring in many different genes cause human Severe Combined Immunodeficiency (SCID).
Also Known As:
Bare Lymphocyte Syndrome; Immunodeficiency Syndrome, Severe Combined; Immunologic Deficiency, Severe Combined; Omenn's Syndrome; Reticuloendotheliosis, Familial; Severe Combined Immunodeficiency Syndrome; Severe Combined Immunologic Deficiency; Bare Lymphocyte Syndromes; Combined Immunodeficiencies, Severe; Combined Immunodeficiency, Severe; Familial Reticuloendothelioses; Familial Reticuloendotheliosis; Immunodeficiencies, Severe Combined; Lymphocyte Syndrome, Bare; Lymphocyte Syndromes, Bare; Omenns Syndrome; Reticuloendothelioses, Familial; Severe Combined Immunodeficiencies; Syndrome, Bare Lymphocyte; Syndrome, Omenn; Syndrome, Omenn's; Syndromes, Bare Lymphocyte; Immunodeficiency, Severe Combined; Omenn Syndrome
Networked: 2083 relevant articles (58 outcomes, 157 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Infection
2. Neoplasms (Cancer)
3. Leukemia
4. Melanoma (Melanoma, Malignant)
5. Wiskott-Aldrich Syndrome (Syndrome, Wiskott-Aldrich)


1. Aiuti, Alessandro: 22 articles (04/2015 - 06/2002)
2. Puck, Jennifer M: 21 articles (07/2015 - 02/2002)
3. Gaspar, H Bobby: 21 articles (05/2015 - 10/2004)
4. Buckley, Rebecca H: 20 articles (07/2015 - 02/2002)
5. Cowan, Morton J: 19 articles (11/2015 - 01/2008)
6. Notarangelo, Luigi D: 19 articles (07/2015 - 02/2005)
7. Roifman, Chaim M: 18 articles (10/2014 - 03/2004)
8. Tateno, Chise: 16 articles (08/2015 - 09/2007)
9. Fischer, Alain: 15 articles (02/2014 - 05/2004)
10. Gennery, Andrew R: 14 articles (11/2015 - 09/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Severe Combined Immunodeficiency:
1. Adenosine DeaminaseIBA
2. AntibodiesIBA
3. matrigelIBA
4. Immunotoxins (Immunotoxin)IBA
5. LBH589IBA
6. Severe combined immunodeficiency due to adenosine deaminase deficiencyIBA
7. Immunoglobulin G (IgG)IBA
8. Complementary DNA (cDNA)IBA
06/01/2005 - "Additionally, a new polymorphism in an intronic region at nt 485 (A-->A/G) was identified, which is close to the polymorphism at nt 474 that has been associated with one of the disease causing CIITA cDNA mutations in bare lymphocyte syndrome. "
02/01/2002 - "In addition, we demonstrate the presence of splice variant at a previously undiscovered intron, accounting for a three nt (TAG) insertion at position 474 that was originally described in association with one of the disease-causing CIITA cDNA mutations in bare lymphocyte syndrome."
05/01/2009 - "Re-expression of KLK6 in nonexpressing MDA-MB-231 breast tumor cells by stable cDNA transfection resulted in marked reversal of their malignant phenotype, manifested by lower proliferation rates and saturation density, marked inhibition of anchorage-independent growth, reduced cell motility, and their dramatically reduced ability to form tumors when implanted in severe combined immunodeficiency mice. "
07/01/1985 - "Utilizing complementary DNA probes for both beta 2-microglobulin and class I genes, the molecular basis for this syndrome was investigated in a family with two siblings exhibiting the bare lymphocyte syndrome. "
01/25/1984 - "In order to determine the molecular basis of adenosine deaminase (ADA) deficiency in cells derived from patients with severe combined immunodeficiency (SCID) disease, we used a human ADA cDNA clone (1) to analyse the organization and transcription of the ADA gene in both normal and ADA-SCID cells. "
9. Immunoglobulins (Immunoglobulin)IBA
10. Streptozocin (Streptozotocin)FDA Link

Therapies and Procedures

1. Hematopoietic Stem Cell Transplantation
2. Transplantation (Transplant Recipients)
3. Bone Marrow Transplantation (Transplantation, Bone Marrow)
4. Drug Therapy (Chemotherapy)
5. Injections