T B NK SCID
MCID: SVR096
MIFTS: 54

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative (T B NK SCID)

Categories: Blood diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases

Aliases & Classifications for Severe Combined Immunodeficiency, Autosomal Recessive, T...

MalaCards integrated aliases for Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative:

Name: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative 57 29 6
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive 57 12 29 6 15
Severe Combined Immunodeficiency, B Cell-Negative 57 29 13 6
Scid, Autosomal Recessive, T-Negative/b-Positive Type 57 13 6
Severe Immunodeficiency, Autosomal Recessive, T-Cell Negative, B-Cell Negative, Nk Cell-Positive 20 39
Severe Combined Immunodeficiency Due to Complete Rag1/2 Deficiency 20 58
Scid Due to Complete Rag1/2 Deficiency 20 58
Immunodeficiency, Severe Combined, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative 39
Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/b-Cell-Negative/nk-Cell-Positive 72
Severe Combined Immunodeficiency Autosomal Recessive T Cell-Negative/b Cell-Negative/nk Cell-Positive 72
Severe Combined Immunodeficiency Autosomal Recessive T-Cell Negative/b-Cell Negative/nk-Cell Positive 72
Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/b-Cell-Positive/nk-Cell-Negative 72
Severe Combined Immunodeficiency Autosomal Recessive T Cell-Negative/b Cell-Positive/nk Cell-Negative 72
Severe Combined Immunodeficiency Autosomal Recessive T-Cell Negative/b-Cell Positive/nk-Cell Negative 72
Autosomal Recessive T Cell-Negative, B-Cell Negative, Nk Cell-Positive Scid 12
Severe Combined Immunodeficiency Due to Complete Rag1-2 Deficiency 12
Scid, Ar, T-Cell Negative, B-Cell Negative, Nk Cell-Positive 20
T-B+ Severe Combined Immunodeficiency Due to Jak3 Deficiency 58
Scid, T Cell-Negative, B Cell-Positive, Nk Cell-Negative 57
Scid, T Cell-Negative, B Cell-Negative, Nk Cell-Positive 57
Scid T Cell-Negative B Cell-Negative Nk Cell-Positive 72
Scid Due to Complete Rag1-2 Deficiency 12
T-B+ Scid Due to Jak3 Deficiency 58
T B Nk Scid 72

Characteristics:

Orphanet epidemiological data:

58
t-b+ severe combined immunodeficiency due to jak3 deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset

severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


Summaries for Severe Combined Immunodeficiency, Autosomal Recessive, T...

UniProtKB/Swiss-Prot : 72 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive: A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development.
Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative: A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development.

MalaCards based summary : Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative, also known as severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, is related to severe combined immunodeficiency with sensitivity to ionizing radiation and combined cellular and humoral immune defects with granulomas. An important gene associated with Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative is JAK3 (Janus Kinase 3), and among its related pathways/superpathways are FoxO signaling pathway and C-MYB transcription factor network. Affiliated tissues include t cells, b cells and bone marrow, and related phenotypes are decreased circulating iga level and decreased circulating igg level

Disease Ontology : 12 A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has material basis in mutation in the RAG1 and RAG2 genes on chromosome 11p12.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 331206 Definition Severe combined immunodeficiency due to complete RAG1/2 deficiency is a rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B- cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.

More information from OMIM: 600802 601457

Related Diseases for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Diseases related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 severe combined immunodeficiency with sensitivity to ionizing radiation 32.6 RAG2 RAG1
2 combined cellular and humoral immune defects with granulomas 30.0 RAG2 RAG1
3 severe combined immunodeficiency 29.6 RAG2 RAG1 JAK3 ADA
4 combined immunodeficiency 29.4 RAG2 RAG1 JAK3 ADA
5 immune deficiency disease 29.0 RAG2 RAG1 JAK3 ADA
6 jak3-deficient severe combined immunodeficiency 11.7
7 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive 11.4
8 t-cell immunodeficiency with thymic aplasia 11.3
9 interleukin-7 receptor alpha deficiency 11.3
10 dyskeratosis congenita, x-linked 10.1
11 immunodeficiency 19 10.1
12 exanthem 10.1
13 dyskeratosis congenita 10.1
14 hoyeraal hreidarsson syndrome 10.1
15 t-b- severe combined immunodeficiency 10.0 RAG2 JAK3
16 recombinase activating gene 1 deficiency 9.9 RAG2 RAG1
17 haverhill fever 9.9 RAG2 RAG1
18 inflammatory bowel disease 18 9.9 RAG2 RAG1
19 lig4 syndrome 9.9 RAG2 RAG1
20 t cell deficiency 9.9 RAG2 RAG1
21 immunodeficiency with hyper-igm, type 1 9.9 RAG2 RAG1
22 retinitis pigmentosa 23 9.8 RAG2 RAG1
23 rigid spine muscular dystrophy 1 9.8 RAG2 RAG1
24 purine nucleoside phosphorylase deficiency 9.8 RAG1 ADA
25 severe combined immunodeficiency, x-linked 9.7 JAK3 ADA
26 prolymphocytic leukemia 9.7 JAK3 ADA
27 osteopetrosis 9.7 RAG2 RAG1
28 bare lymphocyte syndrome, type ii 9.7 RAG2 RAG1 JAK3
29 reticular dysgenesis 9.6 RAG1 JAK3 ADA
30 lymphopenia 9.6 RAG1 JAK3 ADA
31 chronic granulomatous disease 9.5 JAK3 ADA
32 leukemia, acute lymphoblastic 9.4 RAG1 JAK3 ADA
33 adenosine deaminase deficiency 9.2 RAG2 RAG1 JAK3 ADA
34 omenn syndrome 9.2 RAG2 RAG1 JAK3 ADA
35 common variable immunodeficiency 9.2 RAG2 RAG1 JAK3 ADA

Graphical network of the top 20 diseases related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative:



Diseases related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative

Symptoms & Phenotypes for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Human phenotypes related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative:

58 31 (show top 50) (show all 67)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased circulating iga level 58 31 hallmark (90%) Very frequent (99-80%) HP:0002720
2 decreased circulating igg level 58 31 hallmark (90%) Occasional (29-5%),Very frequent (99-80%) HP:0004315
3 decreased circulating total igm 58 31 hallmark (90%) Occasional (29-5%),Very frequent (99-80%) HP:0002850
4 abnormal b cell count 58 31 hallmark (90%) Very frequent (99-80%) HP:0010975
5 failure to thrive 58 31 very rare (1%) Frequent (79-30%) HP:0001508
6 fever 58 31 frequent (33%) Frequent (79-30%) HP:0001945
7 lymphopenia 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001888
8 recurrent bacterial infections 58 31 frequent (33%) Frequent (79-30%) HP:0002718
9 recurrent fungal infections 58 31 frequent (33%) Frequent (79-30%) HP:0002841
10 protracted diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0004385
11 recurrent upper and lower respiratory tract infections 58 31 frequent (33%) Frequent (79-30%) HP:0200117
12 recurrent enteroviral infections 58 31 frequent (33%) Frequent (79-30%) HP:0002743
13 decreased lymphocyte proliferation in response to mitogen 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0031381
14 decreased proportion of cd3-positive t cells 58 31 frequent (33%) Frequent (79-30%) HP:0045080
15 reduced antigen-specific t cell proliferation 58 31 frequent (33%) Frequent (79-30%) HP:0031402
16 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
17 elevated hepatic transaminase 58 31 occasional (7.5%) Occasional (29-5%) HP:0002910
18 pallor 58 31 occasional (7.5%) Occasional (29-5%) HP:0000980
19 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001873
20 skin rash 58 31 occasional (7.5%) Very rare (<4-1%),Occasional (29-5%) HP:0000988
21 eosinophilia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001880
22 hepatosplenomegaly 58 31 occasional (7.5%) Very rare (<4-1%),Occasional (29-5%) HP:0001433
23 autoimmune hemolytic anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001890
24 lymphadenitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002840
25 abnormal natural killer cell count 58 31 occasional (7.5%) Occasional (29-5%) HP:0040089
26 chronic diarrhea 58 31 very rare (1%) Frequent (79-30%) HP:0002028
27 impaired lymphocyte transformation with phytohemagglutinin 58 31 very rare (1%) Very frequent (99-80%) HP:0003347
28 absent natural killer cells 58 31 very rare (1%) Frequent (79-30%) HP:0040219
29 recurrent upper respiratory tract infections 31 very rare (1%) HP:0002788
30 recurrent otitis media 31 very rare (1%) HP:0000403
31 pneumonia 31 very rare (1%) HP:0002090
32 recurrent lower respiratory tract infections 31 very rare (1%) HP:0002783
33 panhypogammaglobulinemia 31 very rare (1%) HP:0003139
34 decreased lymphocyte proliferation in response to anti-cd3 31 very rare (1%) HP:0031382
35 t lymphocytopenia 31 very rare (1%) HP:0005403
36 abnormality of b cell physiology 31 very rare (1%) HP:0005372
37 b lymphocytopenia 58 31 Occasional (29-5%) HP:0010976
38 recurrent opportunistic infections 58 31 Frequent (79-30%) HP:0005390
39 arthritis 31 HP:0001369
40 recurrent respiratory infections 58 Frequent (79-30%)
41 abnormal facial shape 58 Very rare (<4-1%)
42 failure to thrive in infancy 58 Occasional (29-5%)
43 autoimmunity 58 Occasional (29-5%)
44 decreased antibody level in blood 58 Very frequent (99-80%)
45 otitis media 31 HP:0000388
46 conjunctivitis 31 HP:0000509
47 meningitis 31 HP:0001287
48 recurrent pneumonia 58 Occasional (29-5%)
49 intestinal obstruction 31 HP:0005214
50 rectovaginal fistula 58 Very rare (<4-1%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

Neurologic Central Nervous System:
meningitis

Respiratory Lung:
pneumonia

Immunology:
absent natural killer cell cytotoxicity
undetectable/absent peripheral lymph nodes
markedly reduced cd3+ proportion
increased proportion of cd19+ b cells
intrinsic b cell defect
more
Respiratory Airways:
recurrent upper respiratory tract infections

Abdomen Gastrointestinal:
intestinal obstruction
diarrhea

Laboratory Abnormalities:
panhypogammaglobulinemia

Clinical features from OMIM®:

600802 601457 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.85 ADA ESR1 JAK3 RAG1 RAG2
2 cellular MP:0005384 9.83 ADA ESR1 JAK3 RAG1 RAG2
3 digestive/alimentary MP:0005381 9.8 ADA ESR1 JAK3 RAG1 RAG2
4 endocrine/exocrine gland MP:0005379 9.77 ADA ESR1 JAK3 RAG1 RAG2
5 hematopoietic system MP:0005397 9.72 ADA ESR1 JAK3 RAG1 RAG2
6 immune system MP:0005387 9.65 ADA ESR1 JAK3 RAG1 RAG2
7 liver/biliary system MP:0005370 9.46 ADA ESR1 RAG1 RAG2
8 normal MP:0002873 9.26 ADA ESR1 RAG1 RAG2
9 respiratory system MP:0005388 8.92 ADA ESR1 RAG1 RAG2

Drugs & Therapeutics for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Search Clinical Trials , NIH Clinical Center for Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative

Genetic Tests for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Genetic tests related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative:

# Genetic test Affiliating Genes
1 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative 29 JAK3
2 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive 29 RAG1 RAG2
3 Severe Combined Immunodeficiency, B Cell-Negative 29

Anatomical Context for Severe Combined Immunodeficiency, Autosomal Recessive, T...

MalaCards organs/tissues related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative:

40
T Cells, B Cells, Bone Marrow, Bone, Skin

Publications for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Articles related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative:

(show top 50) (show all 124)
# Title Authors PMID Year
1
Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development. 6 57
7481768 1995
2
Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). 6 57
7659163 1995
3
JAK3 mutations in Italian patients affected by SCID: New molecular aspects of a long-known gene. 61 6
30032486 2018
4
Severe combined immunodeficiency in Serbia and Montenegro between years 1986 and 2010: a single-center experience. 6 61
24481607 2014
5
SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID. 6 61
24144642 2014
6
Novel mutatıons and diverse clinical phenotypes in recombinase-activating gene 1 deficiency. 61 6
22424479 2012
7
Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID. 6 61
19458910 2009
8
Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia. 6 61
19912631 2009
9
A novel missense RAG-1 mutation results in T-B-NK+ SCID in Athabascan-speaking Dine Indians from the Canadian Northwest Territories. 61 6
18701881 2009
10
GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes. 61 6
17572155 2007
11
Whole exome sequencing in unclassified autoinflammatory diseases: more monogenic diseases in the pipeline? 6
32447396 2021
12
Rethinking newborn screening for severe combined immunodeficiency: Lessons from an international partnership for patients with primary immunodeficiencies in Pakistan. 6
30858051 2019
13
Phenotypical heterogeneity in RAG-deficient patients from a highly consanguineous population. 6
30307608 2019
14
Targeted high-throughput sequencing technique for the molecular diagnosis of primary immunodeficiency disorders. 6
30290665 2018
15
Evaluation of RAG1 mutations in an adult with combined immunodeficiency and progressive multifocal leukoencephalopathy. 6
28216420 2017
16
Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content. 6
28769923 2017
17
Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency. 6
28747913 2017
18
Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases. 6
26915675 2016
19
Disruption of the RAG2 zinc finger motif impairs protein stability and causes immunodeficiency. 6
26692406 2016
20
Clinical, immunologic, and genetic characteristics of RAG mutations in 15 Chinese patients with SCID and Omenn syndrome. 6
26476733 2016
21
[Analysis of genetic mutations and pathogenesis for two children with Omenn syndrome]. 6
26829731 2016
22
Late Onset Hypomorphic RAG2 Deficiency Presentation with Fatal Vaccine-Strain VZV Infection. 6
26515615 2015
23
RAG1 deficiency may present clinically as selective IgA deficiency. 6
25739914 2015
24
Crystal structure of the V(D)J recombinase RAG1-RAG2. 6
25707801 2015
25
Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders. 6
25516070 2015
26
Leaky RAG Deficiency in Adult Patients with Impaired Antibody Production against Bacterial Polysaccharide Antigens. 6
26186701 2015
27
Clinical exome sequencing for genetic identification of rare Mendelian disorders. 6
25326637 2014
28
Lessons in gene hunting: a RAG1 mutation presenting with agammaglobulinemia and absence of B cells. 6
24985406 2014
29
RAG1 reversion mosaicism in a patient with Omenn syndrome. 6
24817258 2014
30
Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development. 6
24406074 2014
31
Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes. 6
24418478 2014
32
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency. 6
24290284 2014
33
Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations. 6
24472623 2014
34
Exome sequencing reveals RAG1 mutations in a child with autoimmunity and sterile chronic multifocal osteomyelitis evolving into disseminated granulomatous disease. 6
24122031 2013
35
Late-onset combined immune deficiency associated to skin granuloma due to heterozygous compound mutations in RAG1 gene in a 14 years old male. 6
23085344 2013
36
Characterizing T cells in SCID patients presenting with reactive or residual T lymphocytes. 6
23243423 2012
37
Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency. 6
21664875 2011
38
Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. 6
21624848 2011
39
Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome. 6
21771083 2011
40
Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations. 6
21502542 2011
41
Molecular diagnosis of severe combined immunodeficiency--identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 mutations in a cohort of Chinese and Southeast Asian children. 6
21184155 2011
42
Analysis of mutations and recombination activity in RAG-deficient patients. 6
21131235 2011
43
Highly variable clinical phenotypes of hypomorphic RAG1 mutations. 6
20956421 2010
44
Why newborn screening for severe combined immunodeficiency is essential: a case report. 6
20603253 2010
45
Hypomorphic Rag mutations can cause destructive midline granulomatous disease. 6
20489056 2010
46
Defect of regulatory T cells in patients with Omenn syndrome. 6
20109747 2010
47
Homozygous R396H mutation of the RAG1 gene in a Saudi infant with Omenn's syndrome: a case report. 6
19830075 2009
48
Relative CD4 lymphopenia and a skewed memory phenotype are the main immunologic abnormalities in a child with Omenn syndrome due to homozygous RAG1-C2633T hypomorphic mutation. 6
19246248 2009
49
Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency. 6
18822103 2009
50
Saving the red baby: successful allogeneic cord blood transplantation in Omenn syndrome. 6
19064334 2009

Variations for Severe Combined Immunodeficiency, Autosomal Recessive, T...

ClinVar genetic disease variations for Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative:

6 (show top 50) (show all 740)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RAG1 NM_000448.2(RAG1):c.2164G>A (p.Glu722Lys) SNV Pathogenic 13139 rs28933392 GRCh37: 11:36597018-36597018
GRCh38: 11:36575468-36575468
2 RAG1 NM_000448.2(RAG1):c.2320G>T (p.Glu774Ter) SNV Pathogenic 13140 rs104894282 GRCh37: 11:36597174-36597174
GRCh38: 11:36575624-36575624
3 RAG1 NM_000448.2(RAG1):c.2814T>G (p.Tyr938Ter) SNV Pathogenic 13141 rs104894283 GRCh37: 11:36597668-36597668
GRCh38: 11:36576118-36576118
4 JAK3 NM_000215.3(JAK3):c.2125T>A (p.Trp709Arg) SNV Pathogenic 624581 rs748216175 GRCh37: 19:17945735-17945735
GRCh38: 19:17834926-17834926
5 JAK3 NM_000215.3(JAK3):c.1561_1564delinsTGAC (p.Leu521_Glu522delinsTer) Indel Pathogenic 567299 rs1568404443 GRCh37: 19:17949077-17949080
GRCh38: 19:17838268-17838271
6 JAK3 NM_000215.3(JAK3):c.172_174del (p.Ala58del) Deletion Pathogenic 9366 rs137852627 GRCh37: 19:17955053-17955055
GRCh38: 19:17844244-17844246
7 JAK3 NM_000215.3(JAK3):c.1333C>T (p.Arg445Ter) SNV Pathogenic 9364 rs137852626 GRCh37: 19:17950394-17950394
GRCh38: 19:17839585-17839585
8 JAK3 NM_000215.3(JAK3):c.1695C>A (p.Cys565Ter) SNV Pathogenic 9363 rs137852625 GRCh37: 19:17948747-17948747
GRCh38: 19:17837938-17837938
9 JAK3 JAK3, 1-BP INS, 1172G Insertion Pathogenic 9362 GRCh37:
GRCh38:
10 JAK3 JAK3, 151-BP DEL Deletion Pathogenic 9361 GRCh37:
GRCh38:
11 JAK3 NM_000215.3(JAK3):c.299A>G (p.Tyr100Cys) SNV Pathogenic 9360 rs137852624 GRCh37: 19:17954595-17954595
GRCh38: 19:17843786-17843786
12 JAK3 NM_000215.3(JAK3):c.1837C>T (p.Arg613Ter) SNV Pathogenic 644288 rs149316157 GRCh37: 19:17946810-17946810
GRCh38: 19:17836001-17836001
13 JAK3 NM_000215.3(JAK3):c.507C>A (p.Asp169Glu) SNV Pathogenic 9365 rs147181709 GRCh37: 19:17953895-17953895
GRCh38: 19:17843086-17843086
14 JAK3 NM_000215.4(JAK3):c.2933_2934del (p.Lys978fs) Deletion Pathogenic 803541 rs1380154594 GRCh37: 19:17942081-17942082
GRCh38: 19:17831272-17831273
15 JAK3 NM_000215.3(JAK3):c.2989G>T (p.Glu997Ter) SNV Pathogenic 572507 rs1568400897 GRCh37: 19:17941419-17941419
GRCh38: 19:17830610-17830610
16 JAK3 NM_000215.3(JAK3):c.1688_1693delinsTGGAGGTGAGA (p.Lys563fs) Indel Pathogenic 643419 rs1599873591 GRCh37: 19:17948749-17948754
GRCh38: 19:17837940-17837945
17 RAG2 RAG2, 3-BP DEL, NT2018 Deletion Pathogenic 13134 GRCh37:
GRCh38:
18 JAK3 NM_000215.4(JAK3):c.1645C>T (p.Arg549Ter) SNV Pathogenic 803542 rs1011307501 GRCh37: 19:17948797-17948797
GRCh38: 19:17837988-17837988
19 RAG1 RAG1, 1-BP DEL, 631T Deletion Pathogenic 13153 GRCh37:
GRCh38:
20 RAG2 NM_000536.4(RAG2):c.115A>G (p.Arg39Gly) SNV Pathogenic 13136 rs121917897 GRCh37: 11:36615604-36615604
GRCh38: 11:36594054-36594054
21 RAG2 NM_000536.4(RAG2):c.1433G>A (p.Cys478Tyr) SNV Pathogenic 13129 rs121918573 GRCh37: 11:36614286-36614286
GRCh38: 11:36592736-36592736
22 RAG2 NM_000536.4(RAG2):c.1403_1406del (p.His468fs) Deletion Pathogenic 624574 rs786205616 GRCh37: 11:36614313-36614316
GRCh38: 11:36592763-36592766
23 RAG1 NM_000448.2(RAG1):c.1229G>A (p.Arg410Gln) SNV Pathogenic 624576 rs199474684 GRCh37: 11:36596083-36596083
GRCh38: 11:36574533-36574533
24 RAG1 NM_000448.2(RAG1):c.987del (p.Ser330fs) Deletion Pathogenic 624577 rs1564988767 GRCh37: 11:36595839-36595839
GRCh38: 11:36574289-36574289
25 RAG2 NM_000536.4(RAG2):c.686G>A (p.Arg229Gln) SNV Pathogenic 13130 rs121917894 GRCh37: 11:36615033-36615033
GRCh38: 11:36593483-36593483
26 RAG1 NM_000448.2(RAG1):c.2326C>T (p.Arg776Trp) SNV Pathogenic 13161 rs121918572 GRCh37: 11:36597180-36597180
GRCh38: 11:36575630-36575630
27 RAG1 NM_000448.2(RAG1):c.256_257del (p.Lys86fs) Deletion Pathogenic 285045 rs772962160 GRCh37: 11:36595110-36595111
GRCh38: 11:36573560-36573561
28 RAG2 NM_000536.4(RAG2):c.595G>T (p.Glu199Ter) SNV Pathogenic 463972 rs748727021 GRCh37: 11:36615124-36615124
GRCh38: 11:36593574-36593574
29 RAG1 NM_000448.2(RAG1):c.2348C>G (p.Ser783Ter) SNV Pathogenic 573434 rs754502950 GRCh37: 11:36597202-36597202
GRCh38: 11:36575652-36575652
30 RAG1 NM_000448.2(RAG1):c.424C>T (p.Arg142Ter) SNV Pathogenic 626157 rs773929270 GRCh37: 11:36595278-36595278
GRCh38: 11:36573728-36573728
31 RAG1 NM_000448.2(RAG1):c.1421G>A (p.Arg474His) SNV Pathogenic 68684 rs199474686 GRCh37: 11:36596275-36596275
GRCh38: 11:36574725-36574725
32 RAG1 NM_000448.2(RAG1):c.994C>T (p.Arg332Ter) SNV Pathogenic 649706 rs568867325 GRCh37: 11:36595848-36595848
GRCh38: 11:36574298-36574298
33 RAG1 NM_000448.2(RAG1):c.1210C>T (p.Arg404Trp) SNV Pathogenic 636824 rs764981110 GRCh37: 11:36596064-36596064
GRCh38: 11:36574514-36574514
34 RAG1 NM_000448.2(RAG1):c.1180C>T (p.Arg394Trp) SNV Pathogenic 660211 rs1590702874 GRCh37: 11:36596034-36596034
GRCh38: 11:36574484-36574484
35 RAG1 NM_000448.2(RAG1):c.983G>A (p.Cys328Tyr) SNV Pathogenic 13160 rs121918571 GRCh37: 11:36595837-36595837
GRCh38: 11:36574287-36574287
36 overlap with 3 genes NC_000011.10:g.(?_36573285)_(36598102_?)del Deletion Pathogenic 831224 GRCh37: 11:36594835-36619652
GRCh38:
37 RAG2 NM_000536.4(RAG2):c.293del (p.Thr98fs) Deletion Pathogenic 839979 GRCh37: 11:36615426-36615426
GRCh38: 11:36593876-36593876
38 RAG2 NM_000536.4(RAG2):c.685C>T (p.Arg229Trp) SNV Pathogenic 496624 rs765298019 GRCh37: 11:36615034-36615034
GRCh38: 11:36593484-36593484
39 RAG2 NM_000536.4(RAG2):c.686G>A (p.Arg229Gln) SNV Pathogenic 13130 rs121917894 GRCh37: 11:36615033-36615033
GRCh38: 11:36593483-36593483
40 RAG1 NM_000448.3(RAG1):c.1181G>A (p.Arg394Gln) SNV Pathogenic 863577 GRCh37: 11:36596035-36596035
GRCh38: 11:36574485-36574485
41 RAG2 NM_000536.4(RAG2):c.243del (p.Gly82fs) Deletion Pathogenic 857371 GRCh37: 11:36615476-36615476
GRCh38: 11:36593926-36593926
42 RAG1 NM_000448.3(RAG1):c.1228C>T (p.Arg410Trp) SNV Pathogenic 859249 GRCh37: 11:36596082-36596082
GRCh38: 11:36574532-36574532
43 RAG2 NM_000536.4(RAG2):c.638dup (p.Asn213fs) Duplication Pathogenic 934699 GRCh37: 11:36615080-36615081
GRCh38: 11:36593530-36593531
44 RAG2 NM_000536.4(RAG2):c.104G>T (p.Gly35Val) SNV Pathogenic 496618 rs148508754 GRCh37: 11:36615615-36615615
GRCh38: 11:36594065-36594065
45 RAG2 NM_000536.4(RAG2):c.955G>T (p.Gly319Ter) SNV Pathogenic 500475 rs879541124 GRCh37: 11:36614764-36614764
GRCh38: 11:36593214-36593214
46 RAG2 NM_000536.4(RAG2):c.385_389del (p.Leu129fs) Deletion Pathogenic 952544 GRCh37: 11:36615330-36615334
GRCh38: 11:36593780-36593784
47 RAG1 NM_000448.2(RAG1):c.1420C>T (p.Arg474Cys) SNV Pathogenic 68683 rs199474678 GRCh37: 11:36596274-36596274
GRCh38: 11:36574724-36574724
48 RAG1 NM_000448.3(RAG1):c.2877G>A (p.Trp959Ter) SNV Pathogenic 967900 GRCh37: 11:36597731-36597731
GRCh38: 11:36576181-36576181
49 RAG2 NM_000536.4(RAG2):c.1050_1060del (p.Cys350_Asp354delinsTer) Deletion Pathogenic 936911 GRCh37: 11:36614659-36614669
GRCh38: 11:36593109-36593119
50 RAG2 NM_000536.4(RAG2):c.283G>A (p.Gly95Arg) SNV Pathogenic 13133 rs36001797 GRCh37: 11:36615436-36615436
GRCh38: 11:36593886-36593886

UniProtKB/Swiss-Prot genetic disease variations for Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative:

72 (show all 13)
# Symbol AA change Variation ID SNP ID
1 JAK3 p.Tyr100Cys VAR_006284 rs137852624
2 JAK3 p.Glu481Gly VAR_010493
3 JAK3 p.Arg582Trp VAR_010494 rs193922361
4 JAK3 p.Cys759Arg VAR_010497
5 JAK3 p.Leu910Ser VAR_010498
6 JAK3 p.Asp169Glu VAR_019338 rs147181709
7 JAK3 p.Gly589Ser VAR_019339 rs886039394
8 RAG1 p.Arg624His VAR_007803 rs199474680
9 RAG1 p.Glu722Lys VAR_007804 rs28933392
10 RAG1 p.Val433Met VAR_025975 rs199474679
11 RAG1 p.Arg559Ser VAR_025981 rs199474681
12 RAG2 p.Arg229Gln VAR_005570 rs121917894
13 RAG2 p.Cys478Tyr VAR_005571 rs121918573

Expression for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Search GEO for disease gene expression data for Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative.

Pathways for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Pathways related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.46 RAG2 RAG1
2 11.15 RAG2 ADA
3
Show member pathways
11 ESR1 ADA
4 10.58 RAG2 RAG1 JAK3
5 10.5 RAG2 RAG1 JAK3 ADA

GO Terms for Severe Combined Immunodeficiency, Autosomal Recessive, T...

Cellular components related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA recombinase complex GO:0097519 8.62 RAG2 RAG1

Biological processes related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA recombination GO:0006310 9.46 RAG2 RAG1
2 T cell differentiation in thymus GO:0033077 9.43 RAG2 RAG1
3 T cell homeostasis GO:0043029 9.4 RAG1 JAK3
4 positive regulation of T cell differentiation GO:0045582 9.37 RAG1 ADA
5 B cell differentiation GO:0030183 9.33 RAG2 RAG1 JAK3
6 regulation of T cell differentiation GO:0045580 9.32 RAG1 ADA
7 V(D)J recombination GO:0033151 9.26 RAG2 RAG1
8 pre-B cell allelic exclusion GO:0002331 8.96 RAG2 RAG1
9 negative regulation of thymocyte apoptotic process GO:0070244 8.8 RAG1 JAK3 ADA

Molecular functions related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.13 RAG2 RAG1 ESR1
2 zinc ion binding GO:0008270 8.92 RAG2 RAG1 ESR1 ADA

Sources for Severe Combined Immunodeficiency, Autosomal Recessive, T...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
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44 MeSH
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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