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T B NK SCID
MCID: SVR098
MIFTS: 47

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

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Severe Combined Immunodeficiency, Autosomal Recessive, T...

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

Name: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive 57 12 29 6 15 39
Severe Combined Immunodeficiency, T Cell-Negative, B-Cell/natural Killer-Cell Positive 57 13
Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/b-Cell-Positive/nk-Cell-Positive 73
Severe Combined Immunodeficiency Autosomal Recessive T Cell-Negative/b Cell-Positive/nk Cell-Positive 73
Severe Combined Immunodeficiency Autosomal Recessive T-Cell Negative/b-Cell Positive/nk-Cell Positive 73
Severe Combined Immunodeficiency, T-Cell Negative, B-Cell/natural Killer Cell-Positive Type 57
Scid, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive 57
Autosomal Recessive T Cell-Negative, B-Cell Positive, Nk Cell-Positive Scid 12
T-B+ Severe Combined Immunodeficiency Due to Il-7ralpha Deficiency 58
T-B+ Severe Combined Immunodeficiency Due to Cd45 Deficiency 58
T-B+ Scid Due to Il-7ralpha Deficiency 58
T-B+ Scid Due to Cd45 Deficiency 58
T B Nk Scid 73
Scidbnk 73

Characteristics:

Orphanet epidemiological data:

58
t-b+ severe combined immunodeficiency due to cd45 deficiency
Inheritance: Autosomal recessive;

OMIM®:

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

Miscellaneous:
presents at 2 to 3 months of age
death within several months if untreated


HPO:

31
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare immunological diseases


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

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UniProtKB/Swiss-Prot : 73 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/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.

MalaCards based summary : Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive, also known as severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive, is related to severe combined immunodeficiency and combined immunodeficiency. An important gene associated with Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive is IL7R (Interleukin 7 Receptor), and among its related pathways/superpathways are Innate Immune System and ICos-ICosL Pathway in T-Helper Cell. Affiliated tissues include t cells, bone marrow and b cells, and related phenotypes are failure to thrive and decreased lymphocyte proliferation in response to mitogen

Disease Ontology : 12 A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31.

More information from OMIM: 608971
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Related Diseases for Severe Combined Immunodeficiency, Autosomal Recessive, T...

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

(show all 26)
# Related Disease Score Top Affiliating Genes
1 severe combined immunodeficiency 29.9 PTPRC IL7R CD3D
2 combined immunodeficiency 29.7 PTPRC IL7R CD3D
3 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 11.6
4 jak3-deficient severe combined immunodeficiency 11.4
5 t-cell immunodeficiency with thymic aplasia 11.3
6 interleukin-7 receptor alpha deficiency 11.3
7 immune deficiency disease 10.1
8 dyskeratosis congenita, x-linked 10.1
9 immunodeficiency 19 10.1
10 exanthem 10.1
11 dyskeratosis congenita 10.1
12 hoyeraal hreidarsson syndrome 10.1
13 histiocytic and dendritic cell cancer 9.9 PTPRC CLU
14 nodular tenosynovitis 9.9 PTPRC CLU
15 macular degeneration, age-related, 8 9.9 PTPRC IL7R
16 t cell deficiency 9.9 PTPRC IL7R
17 listeriosis 9.9 PTPRC IL7R
18 autoimmune disease of central nervous system 9.8 PTPRC IL7R
19 autoimmune disease of the nervous system 9.8 PTPRC IL7R
20 anaplastic large cell lymphoma 9.8 PTPRC CLU
21 human immunodeficiency virus infectious disease 9.8 PTPRC IL7R
22 demyelinating disease 9.8 PTPRC IL7R
23 autoimmune lymphoproliferative syndrome 9.7 PTPRC IL7R
24 celiac disease 1 9.7 PTPRC IL7R
25 t-cell acute lymphoblastic leukemia 9.6 PTPRC IL7R
26 omenn syndrome 9.5 PTPRC IL7R CD3D

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



Diseases related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
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Symptoms & Phenotypes for Severe Combined Immunodeficiency, Autosomal Recessive, T...

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

58 31 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
2 decreased lymphocyte proliferation in response to mitogen 58 31 frequent (33%) Frequent (79-30%) HP:0031381
3 decreased proportion of cd8-positive t cells 58 31 frequent (33%) Frequent (79-30%) HP:0005415
4 decreased proportion of cd3-positive t cells 58 31 frequent (33%) Frequent (79-30%) HP:0045080
5 recurrent viral infections 31 frequent (33%) HP:0004429
6 decreased proportion of cd4-positive helper t cells 31 frequent (33%) HP:0005407
7 fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0001945
8 recurrent upper respiratory tract infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002788
9 alopecia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001596
10 neutropenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001875
11 chronic diarrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002028
12 erythroderma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001019
13 eosinophilia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001880
14 lymphadenopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002716
15 hepatosplenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001433
16 oral ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0000155
17 increased circulating iga level 58 31 occasional (7.5%) Occasional (29-5%) HP:0003261
18 autoimmune thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001973
19 recurrent candida infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0005401
20 lymphocytosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100827
21 recurrent lower respiratory tract infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002783
22 increased circulating igg level 58 31 occasional (7.5%) Occasional (29-5%) HP:0003237
23 neonatal sepsis 58 31 occasional (7.5%) Occasional (29-5%) HP:0040187
24 psoriasiform lesion 58 31 occasional (7.5%) Occasional (29-5%) HP:0025526
25 increased circulating ige level 31 occasional (7.5%) HP:0003212
26 splenomegaly 31 HP:0001744
27 hepatomegaly 31 HP:0002240
28 lymphopenia 58 Frequent (79-30%)
29 otitis media 31 HP:0000388
30 eczema 31 HP:0000964
31 recurrent infections 58 Very frequent (99-80%)
32 increased antibody level in blood 58 Occasional (29-5%)
33 pneumonia 31 HP:0002090
34 diarrhea 31 HP:0002014
35 increased circulating total ige level 58 Occasional (29-5%)
36 severe combined immunodeficiency 31 HP:0004430
37 decrease in t cell count 58 Frequent (79-30%)
38 severe viral infections 58 Frequent (79-30%)
39 decreased proportion of cd4-positive t cells 58 Frequent (79-30%)
40 recurrent opportunistic infections 31 HP:0005390
41 failure to thrive secondary to recurrent infections 31 HP:0008866
42 t lymphocytopenia 31 HP:0005403

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Abdomen Spleen:
splenomegaly

Head And Neck Ears:
otitis media

Immunology:
lymphadenopathy
frequent opportunistic infections
normal or elevated numbers of functional natural killer cells (nk)
normal or elevated number of peripheral blood b cells
absent peripheral blood t cells
more
Skin Nails Hair Skin:
dermatitis

Respiratory Lung:
recurrent acute pneumonia

Abdomen Liver:
hepatomegaly

Abdomen Gastrointestinal:
diarrhea

Growth Other:
failure to thrive secondary to recurrent infections

Head And Neck Mouth:
candida albicans infection
thrush

Clinical features from OMIM®:

608971 (Updated 05-Mar-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.32 PTPRC
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.32 PTPRC
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-189 9.32 IL7R
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 9.32 IL7R
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.32 IL7R
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-41 9.32 PTPRC
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 9.32 IL7R
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.32 IL7R
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.32 PTPRC
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.32 IL7R
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Drugs & Therapeutics for Severe Combined Immunodeficiency, Autosomal Recessive, T...

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

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

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

# Genetic test Affiliating Genes
1 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive 29 IL7R PTPRC
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Anatomical Context for Severe Combined Immunodeficiency, Autosomal Recessive, T...

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

40
T Cells, Bone Marrow, B Cells
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Publications for Severe Combined Immunodeficiency, Autosomal Recessive, T...

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

(show top 50) (show all 54)
# Title Authors PMID Year
1
Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency. 61 6 57
9843216 1998
2
CD45-deficient severe combined immunodeficiency caused by uniparental disomy. 57 6
22689986 2012
3
A deletion in the gene encoding the CD45 antigen in a patient with SCID. 57 6
11145714 2001
4
A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency. 57 6
11023514 2000
5
Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease. 6
10700239 2000
6
Severe combined immunodeficiency with abnormalities in expression of the common leucocyte antigen, CD45. 57
9068311 1997
7
Atypical immune phenotype in severe combined immunodeficiency patients with novel mutations in IL2RG and JAK3. 61
32921793 2020
8
[Ichtyosiform erythroderma revealing a severe combined immunodeficiency]. 61
31973905 2020
9
FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans. 61
31566583 2019
10
Hematopoietic Stem Cell Transplant for the Treatment of X-MAID. 61
31139601 2019
11
JAK3 mutations in Italian patients affected by SCID: New molecular aspects of a long-known gene. 61
30032486 2018
12
Corrigendum: A Novel Homozygous JAK3 Mutation Leading to T-B+NK- SCID in Two Brazilian Patients. 61
30515370 2018
13
A Novel Homozygous JAK3 Mutation Leading to T-B+NK- SCID in Two Brazilian Patients. 61
30177960 2018
14
A novel pathogenic frameshift variant of CD3E gene in two T-B+ NK+ SCID patients from Turkey. 61
28597365 2017
15
Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing. 61
27807805 2017
16
SCID pigs: An emerging large animal NK model. 61
29152615 2017
17
Clinical, Laboratory, and Molecular Findings for 63 Patients With Severe Combined Immunodeficiency: A Decade´s Experience. 61
28266921 2017
18
Novel compound heterozygous mutations in a Japanese girl with Janus kinase 3 deficiency. 61
27593409 2016
19
Partial loss of interleukin 2 receptor gamma function in pigs provides mechanistic insights for the study of human immunodeficiency syndrome. 61
27463006 2016
20
Recombinase Activating Gene 1 Deficiencies Without Omenn Syndrome May Also Present With Eosinophilia and Bone Marrow Fibrosis. 61
27081423 2016
21
Deep intronic mis-splicing mutation in JAK3 gene underlies T-B+NK- severe combined immunodeficiency phenotype. 61
26769277 2016
22
Not All SCID Pigs Are Created Equally: Two Independent Mutations in the Artemis Gene Cause SCID in Pigs. 61
26320255 2015
23
Cytoreductive conditioning for severe combined immunodeficiency--help or hindrance? 61
26099343 2015
24
Rapid Flow cytometric prenatal diagnosis of primary immunodeficiency (PID) disorders. 61
24535004 2014
25
Severe combined immunodeficiency in Serbia and Montenegro between years 1986 and 2010: a single-center experience. 61
24481607 2014
26
Severe combined immunodeficiency caused by a new homozygous RAG1 mutation with progressive encephalopathy. 61
24333136 2014
27
SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID. 61
24144642 2014
28
Atypical combined immunodeficiency due to Artemis defect: a case presenting as hyperimmunoglobulin M syndrome and with LGLL. 61
23911390 2013
29
Variable presentation of primary immune deficiency: two cases with CD3 gamma deficiency presenting with only autoimmunity. 61
23590417 2013
30
Two SCID cases with Cernunnos-XLF deficiency successfully treated by hematopoietic stem cell transplantation. 61
21535335 2012
31
Transcription factor zinc finger and BTB domain 1 is essential for lymphocyte development. 61
22753936 2012
32
Novel mutatıons and diverse clinical phenotypes in recombinase-activating gene 1 deficiency. 61
22424479 2012
33
Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID. 61
21883749 2011
34
Hyperbilirubinemia and rapid fatal hepatic failure in severe combined immunodeficiency caused by adenosine deaminase deficiency (ADA-SCID). 61
21271505 2011
35
Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID. 61
19458910 2009
36
Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia. 61
19912631 2009
37
Disseminated bacille Calmette-Guérin in Iranian children with severe combined immunodeficiency. 61
19403320 2009
38
Recombinase-activating gene 1 immunodeficiency: different immunological phenotypes in three siblings. 61
19243569 2009
39
Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion. 61
19097825 2009
40
A novel missense RAG-1 mutation results in T-B-NK+ SCID in Athabascan-speaking Dine Indians from the Canadian Northwest Territories. 61
18701881 2009
41
Novel RAG2 mutation in a patient with T- B- severe combined immunodeficiency and disseminated BCG disease. 61
20128425 2009
42
Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome. 61
18505430 2008
43
Defective Artemis nuclease is characterized by coding joints with microhomology in long palindromic-nucleotide stretches. 61
18034425 2007
44
GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes. 61
17572155 2007
45
Severe combined immune deficiency in an adenosine deaminase-deficient patient. 61
16724639 2006
46
A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation. 61
16357942 2006
47
Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow. 61
12406895 2003
48
A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome. 61
12437656 2002
49
A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans. 61
12055248 2002
50
B cell function after haploidentical in utero bone marrow transplantation in a patient with severe combined immunodeficiency. 61
11979315 2002
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Variations for Severe Combined Immunodeficiency, Autosomal Recessive, T...

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

6 (show top 50) (show all 374)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PTPRC NM_002838.5(PTPRC):c.1450+1G>A SNV Pathogenic 14457 rs1571865049 1:198685970-198685970 1:198716841-198716841
2 PTPRC PTPRC, 6-BP DEL, NT1168 Deletion Pathogenic 14458
3 PTPRC NM_002838.5(PTPRC):c.1624A>T (p.Lys542Ter) SNV Pathogenic 60723 rs398122383 1:198687396-198687396 1:198718267-198718267
4 IL7R NM_002185.5(IL7R):c.361dup (p.Ile121fs) Duplication Pathogenic 224841 rs869312857 5:35867540-35867541 5:35867438-35867439
5 IL7R Deletion Pathogenic 224842 5:35862009-35867620
6 IL7R NM_002185.5(IL7R):c.394C>T (p.Pro132Ser) SNV Pathogenic 14843 rs104893894 5:35871172-35871172 5:35871070-35871070
7 IL7R NM_002185.5(IL7R):c.651G>A (p.Trp217Ter) SNV Pathogenic 14842 rs104893893 5:35873695-35873695 5:35873593-35873593
8 IL7R NM_002185.5(IL7R):c.538-1G>A SNV Pathogenic 14841 rs1315265916 5:35873581-35873581 5:35873479-35873479
9 IL7R NM_002185.5(IL7R):c.333T>A (p.Val111=) SNV Pathogenic 208851 rs199641706 5:35867519-35867519 5:35867417-35867417
10 IL7R NM_002185.5(IL7R):c.753dup (p.Ser252fs) Duplication Pathogenic 464438 rs1554067182 5:35874596-35874597 5:35874494-35874495
11 IL7R NM_002185.5(IL7R):c.291_294del (p.Lys97fs) Deletion Pathogenic 533056 rs1554066684 5:35867474-35867477 5:35867372-35867375
12 IL7R NC_000005.10:g.(?_35867286)_(35867483_?)del Deletion Pathogenic 533085 5:35867388-35867585 5:35867286-35867483
13 IL7R NM_002185.5(IL7R):c.437_438del (p.Phe146fs) Deletion Pathogenic 565662 rs1561423197 5:35871214-35871215 5:35871112-35871113
14 IL7R NM_002185.5(IL7R):c.704C>G (p.Ser235Ter) SNV Pathogenic 578174 rs766555082 5:35873748-35873748 5:35873646-35873646
15 IL7R NM_002185.5(IL7R):c.221+2T>G SNV Pathogenic 265195 rs200044623 5:35861094-35861094 5:35860992-35860992
16 IL7R NM_002185.5(IL7R):c.134A>C (p.Gln45Pro) SNV Pathogenic 624585 rs1561418803 5:35861005-35861005 5:35860903-35860903
17 IL7R NM_002185.5(IL7R):c.355A>T (p.Lys119Ter) SNV Pathogenic 642787 rs1448018291 5:35867541-35867541 5:35867439-35867439
18 IL7R NC_000005.10:g.(?_35860832)_(35871233_?)del Deletion Pathogenic 650715 5:35860934-35871335 5:35860832-35871233
19 PTPRC NM_002838.5(PTPRC):c.2295C>G (p.Tyr765Ter) SNV Pathogenic 635760 rs1571880832 1:198704273-198704273 1:198735144-198735144
20 PTPRC NM_002838.5(PTPRC):c.2362_2363delinsT (p.Arg788fs) Indel Pathogenic 662609 rs1571880941 1:198704340-198704341 1:198735211-198735212
21 IL7R NM_002185.5(IL7R):c.353G>A (p.Cys118Tyr) SNV Pathogenic 36392 rs193922641 5:35867539-35867539 5:35867437-35867437
22 IL7R NM_002185.5(IL7R):c.675C>A (p.Tyr225Ter) SNV Pathogenic 664754 rs1390410878 5:35873719-35873719 5:35873617-35873617
23 IL7R NM_002185.5(IL7R):c.221+1G>A SNV Pathogenic 830061 rs1580851910 5:35861093-35861093 5:35860991-35860991
24 IL7R GRCh37/hg19 5p13.2(chr5:35867357-35867581) copy number loss Pathogenic 915995 5:35867357-35867581
25 IL7R NM_002185.5(IL7R):c.537+1G>A SNV Pathogenic 624613 rs777878144 5:35871316-35871316 5:35871214-35871214
26 PTPRC NM_002838.5(PTPRC):c.2940T>A (p.Tyr980Ter) SNV Pathogenic 962354 1:198718546-198718546 1:198749417-198749417
27 IL7R NM_002185.5(IL7R):c.160T>C (p.Ser54Pro) SNV Likely pathogenic 624586 rs1002396899 5:35861031-35861031 5:35860929-35860929
28 PTPRC NM_002838.5(PTPRC):c.2403+1G>A SNV Likely pathogenic 533063 rs1553243550 1:198704382-198704382 1:198735253-198735253
29 IL7R NM_002185.5(IL7R):c.83-1G>A SNV Likely pathogenic 569326 rs200803157 5:35860953-35860953 5:35860851-35860851
30 PTPRC NM_002838.5(PTPRC):c.3073-6A>G SNV Conflicting interpretations of pathogenicity 533069 rs191867796 1:198719615-198719615 1:198750486-198750486
31 PTPRC NM_002838.5(PTPRC):c.782G>T (p.Gly261Val) SNV Conflicting interpretations of pathogenicity 379207 rs142941257 1:198675959-198675959 1:198706830-198706830
32 PTPRC NM_002838.5(PTPRC):c.2142+7A>G SNV Conflicting interpretations of pathogenicity 626155 rs764731559 1:198701692-198701692 1:198732563-198732563
33 IL7R NM_002185.5(IL7R):c.778G>A (p.Ala260Thr) SNV Conflicting interpretations of pathogenicity 418258 rs147153824 5:35874622-35874622 5:35874520-35874520
34 IL7R NM_002185.5(IL7R):c.602A>G (p.Tyr201Cys) SNV Conflicting interpretations of pathogenicity 353266 rs145810271 5:35873646-35873646 5:35873544-35873544
35 IL7R NM_002185.5(IL7R):c.707G>A (p.Gly236Glu) SNV Conflicting interpretations of pathogenicity 353268 rs201084372 5:35874551-35874551 5:35874449-35874449
36 PTPRC NM_002838.5(PTPRC):c.1568A>T (p.Glu523Val) SNV Conflicting interpretations of pathogenicity 506974 rs116464756 1:198687340-198687340 1:198718211-198718211
37 IL7R NM_002185.5(IL7R):c.1316C>G (p.Thr439Ser) SNV Conflicting interpretations of pathogenicity 715277 rs148931962 5:35876524-35876524 5:35876422-35876422
38 IL7R NM_002185.5(IL7R):c.1165G>C (p.Asp389His) SNV Conflicting interpretations of pathogenicity 353270 rs143596606 5:35876373-35876373 5:35876271-35876271
39 IL7R NM_002185.5(IL7R):c.1096T>C (p.Ser366Pro) SNV Conflicting interpretations of pathogenicity 134539 rs201671392 5:35876304-35876304 5:35876202-35876202
40 IL7R NM_002185.5(IL7R):c.152C>T (p.Ser51Leu) SNV Conflicting interpretations of pathogenicity 134523 rs138482569 5:35861023-35861023 5:35860921-35860921
41 IL7R NM_002185.5(IL7R):c.*3112A>G SNV Uncertain significance 907331 5:35879700-35879700 5:35879598-35879598
42 IL7R NM_002185.5(IL7R):c.82+3del Deletion Uncertain significance 963341 5:35857164-35857164 5:35857062-35857062
43 PTPRC NM_002838.5(PTPRC):c.2837C>G (p.Ala946Gly) SNV Uncertain significance 966312 1:198713322-198713322 1:198744193-198744193
44 PTPRC NM_002838.5(PTPRC):c.2519C>T (p.Ala840Val) SNV Uncertain significance 967317 1:198711113-198711113 1:198741984-198741984
45 PTPRC NM_002838.5(PTPRC):c.3509+4C>T SNV Uncertain significance 508838 rs574020110 1:198721905-198721905 1:198752776-198752776
46 IL7R NM_002185.5(IL7R):c.1022G>A (p.Gly341Glu) SNV Uncertain significance 972480 5:35876230-35876230 5:35876128-35876128
47 IL7R NM_002185.5(IL7R):c.1007A>G (p.Glu336Gly) SNV Uncertain significance 464436 rs770237630 5:35876215-35876215 5:35876113-35876113
48 PTPRC NM_002838.5(PTPRC):c.667C>A (p.Pro223Thr) SNV Uncertain significance 960200 1:198673609-198673609 1:198704480-198704480
49 IL7R NM_002185.5(IL7R):c.32T>C (p.Val11Ala) SNV Uncertain significance 961385 5:35857111-35857111 5:35857009-35857009
50 IL7R NM_002185.5(IL7R):c.*3050G>T SNV Uncertain significance 907329 5:35879638-35879638 5:35879536-35879536

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

73
# Symbol AA change Variation ID SNP ID
1 IL7R p.Pro132Ser VAR_034870 rs104893894

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

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

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

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 65
Show member pathways
 13.39 PTPRC IL7R CLU CD3D
2
ICos-ICosL Pathway in T-Helper Cell 63
Show member pathways
 11.89 PTPRC CD3D
3
TCR signaling (REACTOME) 65
Show member pathways
 11.83 PTPRC CD3D
4
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.52 PTPRC IL7R
5
Translocation of ZAP-70 to Immunological synapse 65
Show member pathways
 11.47 PTPRC CD3D
6
TCR signaling in naive CD4+ T cells 1
Show member pathways
 11.44 PTPRC CD3D
7
Hematopoietic cell lineage 36
11.36 IL7R CD3D
8
Innate Lymphoid Cell Differentiation Pathways 64
11.22 PTPRC IL7R
9
CXCR4-mediated signaling events 1
11.14 PTPRC CD3D
10
Dendritic Cells Developmental Lineage Pathway 64
11.02 PTPRC IL7R
11
Commom Cytokine Receptor G Chain Siganaling Pathway 66
10.81 PTPRC IL7R
12
Primary immunodeficiency 36
10.38 PTPRC IL7R CD3D
Sources

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

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

# Name GO ID Score Top Affiliating Genes
1 cell periphery GO:0071944 9.16 PTPRC CLU
2 clathrin-coated vesicle membrane GO:0030665 8.96 IL7R CD3D
3 external side of plasma membrane GO:0009897 8.8 PTPRC IL7R CD3D

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

# Name GO ID Score Top Affiliating Genes
1 T cell receptor signaling pathway GO:0050852 9.46 PTPRC CD3D
2 membrane organization GO:0061024 9.43 IL7R CD3D
3 cell morphogenesis GO:0000902 9.4 IL7R CLU
4 positive regulation of tumor necrosis factor production GO:0032760 9.37 PTPRC CLU
5 cell surface receptor signaling pathway GO:0007166 9.33 PTPRC IL7R CD3D
6 T cell differentiation GO:0030217 9.32 PTPRC IL7R
7 B cell proliferation GO:0042100 9.26 PTPRC IL7R
8 positive thymic T cell selection GO:0045059 8.96 PTPRC CD3D
9 negative regulation of T cell mediated cytotoxicity GO:0001915 8.62 PTPRC IL7R
Sources

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

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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
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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