Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive

Common Name(s)

Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive

Severe combined immunodeficiency refers to a genetically and clinically heterogeneous group of disorders with defective cellular and humoral immune function. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms, including Candida albicans, Pneumocystis carinii, and cytomegalovirus, among many others. Laboratory analysis shows profound lymphopenia with diminished or absent immunoglobulins. The common characteristic of all types of SCID is absence of T cell-mediated cellular immunity due to a defect in T-cell development. Without treatment, patients usually die within the first year of life. The overall prevalence of all types of SCID is approximately 1 in 75,000 births ({10:Fischer et al., 1997}; {2:Buckley, 2004}). SCID can be divided into 2 main classes: those with B lymphocytes (B+ SCID) and those without (B- SCID). Presence or absence of NK cells is variable within these groups. The most common form of SCID is X-linked T-, B+, NK- SCID ({300400}) caused by mutation in the IL2RG gene ({308380}) on chromosome Xq13.1. Autosomal recessive SCID includes T-, B+, NK- SCID ({600802}) caused by mutation in the JAK3 gene ({600173}) on 19p13.1; T-, B+, NK+ SCID ({608971}) caused by mutation in the IL7R gene ({146661}) on 5p13, the CD45 gene ({151460}) on 1q31-q32, or the CD3D gene ({186790}) on 11q23; T-, B-, NK- SCID ({102700}) caused by mutation in the ADA ({608958}) gene on 20q13.11; T-, B-, NK+ SCID with sensitivity to ionizing radiation caused by mutation in the Artemis gene on 10p; and T-, B-, NK+ SCID caused by mutation in the RAG1 and RAG2 genes on 11p13 ({22:Kalman et al., 2004}). Approximately 20 to 30% of all SCID patients are T-, B-, NK+, and approximately half of these patients have mutations in the RAG1 or RAG2 genes ({29:Schwarz et al., 1996}; {10:Fischer et al., 1997}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive" returned 0 free, full-text review articles on human participants.

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.