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X-linked Severe Combined Immunodeficiency: Disease Bioinformatics

X-linked Combined Immunodeficiency is an inherited disease that causes the body’s immune system to not function properly. X-linked Combined Immunodeficiency is caused by a mutation on the IL2RG gene on the X-Chromosome. This gene is responsible for making the protein that helps to make lymphocytes, which are cells that help to make antibodies. Without these vital lymphocytes, the body is unable to properly fend off disease. Because it is an X-linked disease, the majority of people with X-linked Combined Immunodeficiency are males who are diagnosed as infants. Symptoms of X-linked Combined Immunodeficiency include opportunistic infections, fungal infection, rashes, diarrhea, fevers, colds, and various other conditions that do not go away with traditional treatment. In most cases, survival is only possible with bone marrow transplant or gene replacement therapy.

Top Research Reagents

We have 4084 products for the study of X-linked Severe Combined Immunodeficiency that can be applied to Chromatin Immunoprecipitation (ChIP), Flow Cytometry, Immunocytochemistry/ Immunofluorescence, Immunohistochemistry, Western Blot from our catalog of antibodies and ELISA kits.

Adenosine Deaminase/ADA Antibody
NBP1-87404
Immunohistochemistry-Paraffin: Adenosine Deaminase/ADA Antibody [NBP1-87404] - Analysis in human duodenum and testis tissues using NBP1-87404 antibody. Corresponding Adenosine Deaminase/ADA RNA-seq data are presented for the same tissues.Immunohistochemistry-Paraffin: Adenosine Deaminase/ADA Antibody [NBP1-87404] - Staining of human duodenum, small intestine, stomach and testis using Anti-Adenosine Deaminase/ADA antibody NBP1-87404 (A) shows similar protein distribution across tissues to independent antibody NBP1-90361 (B).

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB, Flow, ICC/IF

4 Publications
WASP Antibody
NB300-996
Immunocytochemistry/Immunofluorescence: WASP Antibody [NB300-996] - Immunofluorescence analysis of paraformaldehyde fixed U2OS cells, permeabilized with 0.15% Triton. Primary incubation 1hr (10 ug/mL) followed by Alexa Fluor 488 secondary antibody (2 ug/mL), showing nuclear and cytoplasmic staining. The nuclear stain is DAPI (blue). Negative control: Unimmunized goat IgG (10 ug/mL) followed by Alexa Fluor 488 secondary antibody (2 ug/mL).Immunohistochemistry-Paraffin: WASP Antibody [NB300-996] - Staining of paraffin embedded Human Spleen. Antibody at 5 ug/mL. Steamed antigen retrieval with citrate buffer pH 6, AP-staining.

Goat Polyclonal
Species Human
Applications WB, Flow, ICC/IF

1 Publication
Common gamma Chain/IL-2 R gamma Antibody [Unconjugated]
AF284
Recombinant Human IL‑2 (Catalog # <A class=NoLineLink href=

Goat Polyclonal
Species Human
Applications WB, Flow, CyTOF-ready

6 Publications
CD34 Antibody [Unconjugated]
AF4117
CD34 was detected in perfusion fixed frozen sections of rat liver using 15 µg/mL Rat CD34 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF4117) overnight at 4 °C. Tissue was stained with the Anti-Goat HRP-DAB Cell & Tissue Staining Kit (brown; Catalog # <a class=

Goat Polyclonal
Species Rat
Applications WB, IHC

     3 Reviews

37 Publications
LMO2 Antibody [Unconjugated]
AF2726
K562 chronic myelogenous leukemia human cell line was stained with Goat Anti-Human LMO2 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF2726, filled histogram) or control antibody (Catalog # <a class=Human PBMC were stained with Goat Anti-Human LMO2 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF2726, filled histogram) or control antibody (Catalog # <a class=

Goat Polyclonal
Species Human
Applications WB, Flow, ICC

15 Publications
Jak1 Antibody (413104) [Unconjugated]
MAB4260
Jurkat human acute T cell leukemia cell line was stained with Rat Anti-Human/Mouse/Rat Jak1 Monoclonal Antibody (Catalog # MAB4260, filled histogram) or isotype control antibody (Catalog # <a class=NoLineLink href='http://www.rndsystems.com/search?keywords=MAB0061'>MAB0061</a>, open histogram), followed by Phycoerythrin-conjugated Anti-Rat IgG F(ab')<sub>2</sub> Secondary Antibody (Catalog # <a class=NoLineLink href=Western blot shows lysates of Jurkat human acute T cell leukemia cell line, K562 human chronic myelogenous leukemia cell line, A20 mouse B cell lymphoma cell line, and L1.2 mouse pro-B cell line. PVDF membrane was probed with 1 µg/mL of Rat Anti-Human/Mouse/Rat Jak1 Monoclonal Antibody (Catalog # MAB4260) followed by HRP-conjugated Anti-Rat IgG Secondary Antibody (Catalog # <a class=

Rat Monoclonal
Species Human, Mouse, Rat
Applications WB, Simple Western, IHC

     1 Review

2 Publications
IL-21 Antibody [Unconjugated]
AF594
IL‑21 was detected in immersion fixed concanavalin A-stimulated mouse splenocytes using 15 µg/mL Mouse IL‑21 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF594) for 3 hours at room temperature. Cells were stained with the NorthernLights™ 557-conjugated Anti-Goat IgG Secondary Antibody (red; Catalog # <a class=Recombinant Mouse IL-21 (Catalog # <a class=

Goat Polyclonal
Species Mouse
Applications WB, ELISA(Cap), ELISA(Det)

80 Publications
IL-17C Antibody (177114) [Unconjugated]
MAB1234
IL‑17C was detected in immersion fixed paraffin-embedded sections of human crohn's intestine using Mouse Anti-Human IL‑17C Monoclonal Antibody (Catalog # MAB1234) at 10 µg/ml for 1 hour at room temperature followed by incubation with the Anti-Mouse IgG VisUCyte™ HRP Polymer Antibody (Catalog # <a class=NoLineLink href=PC-3 human prostate cancer cell line was stained with Mouse Anti-Human IL-17C Monoclonal Antibody (Catalog # MAB1234, filled histogram) or isotype control antibody (<a class=

Mouse Monoclonal
Species Human
Applications WB, IHC, CyTOF-ready

2 Publications
Jak3 Antibody (5H2) - BSA Free
NBP2-37737
Western Blot: Jak3 Antibody (5H2) [NBP2-37737] - Western blot analysis using JAK3 mouse mAb against Jurkat cell lysate (1).Immunocytochemistry/Immunofluorescence: Jak3 Antibody (5H2) [NBP2-37737] - Confocal immunofluorescence analysis of 3T3-L1 cells using JAK3 mouse mAb (green). Red: Actin filaments have been labeled with DY-554 phalloidin. Blue: DRAQ5 fluorescent DNA dye.

Mouse Monoclonal
Species Human, Mouse
Applications WB, ELISA, Flow

2 Publications
IL-4 [Unconjugated]
6507-IL/CF
Measured in a cell proliferation assay using TF‑1 human erythroleukemic cells. The ED<sub>50</sub> for this effect is 0.05-0.2 ng/mL.


Species Human
Applications BA

3 Publications
CD40 Ligand/TNFSF5 [HRP]
DCDL40
N/A CD40 Ligand/TNFSF5 [HRP]N/A CD40 Ligand/TNFSF5 [HRP]


Species Human
Applications ELISA

44 Publications
IL-21R [Unconjugated]
596-MR


Species Mouse
Applications BA

30 Publications
IL-22 [Unconjugated]
782-IL/CF
Recombinant Human IL-22 (Catalog # 782‑IL/CF) induces IL-10 secretion in the COLO 205 human colorectal adenocarcinoma cell line. The ED<sub>50</sub> for this effect is 60‑300 pg/mL.1 µg/lane of Recombinant Human IL-22 was resolved with SDS-PAGE under reducing (R) conditions and visualized by silver staining, showing a single band at 14 kDa.


Species Human
Applications BA

65 Publications
IL-9 [Unconjugated]
409-ML


Species Mouse
Applications BA

13 Publications
IL-7 [Unconjugated]
207-IL
Recombinant Human IL-7 Protein (Catalog # 207-IL) has a molecular weight (MW) of 16.0 kDa as analyzed by SEC-MALS, suggesting that this protein is a monomer.


Species Human
Applications BA

157 Publications
IL-2 [Unconjugated]
202-IL
As an alternative, please consider our next generation Recombinant Human IL-2 (<a class=


Species Human
Applications BA

     4 Reviews

377 Publications
IL-15 [Unconjugated]
247-ILB
Recombinant Human IL-5 Protein (Catalog # 247-ILB) has a molecular weight (MW) of 13.1 kDa as analyzed by SEC-MALS, suggesting that this protein is a monomer. 


Species Human
Applications BA

165 Publications
Recombinant Human Fucosyltransferase 1/FUT1 GST (N-Term) Protein
H00002523-P01
12.5% SDS-PAGE Stained with Coomassie Blue.


Species Human
Applications WB, ELISA, PA


Related Genes

X-linked Severe Combined Immunodeficiency has been researched against:

Related Pathways

X-linked Severe Combined Immunodeficiency has been linked to:

Related Diseases

X-linked Severe Combined Immunodeficiency has been studied in relation to diseases such as:

Related PTMs

X-linked Severe Combined Immunodeficiency has been studied in relation to posttranslational modifications (PTMs) including:

Alternate Names

X-linked Severe Combined Immunodeficiency is also known as Scid, X-linked, Scidx, Scidx1, Severe Combined Immunodeficiency, X-linked, Thymic Epithelial Hypoplasia.