Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: SVR098 MIFTS: 39	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive Categories: Genetic diseases, Blood diseases, Rare diseases, Immune diseases
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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-Positive:

Name: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive ⁵⁷ ¹² ²⁹ ⁶ ⁴⁰

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 ⁷⁵

Severe Combined Immunodeficiency Autosomal Recessive T Cell-Negative/b Cell-Positive/nk Cell-Positive ⁷⁵

Severe Combined Immunodeficiency Autosomal Recessive T-Cell Negative/b-Cell Positive/nk-Cell Positive ⁷⁵

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 Negative, Nk Cell-Positive Scid ¹²

T-B+ Severe Combined Immunodeficiency Due to Il-7ralpha Deficiency ⁵⁹

T-B+ Severe Combined Immunodeficiency Due to Cd45 Deficiency ⁵⁹

T-B+ Scid Due to Il-7ralpha Deficiency ⁵⁹

T-B+ Scid Due to Cd45 Deficiency ⁵⁹

T B Nk Scid ⁷⁵

Scidbnk ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

Inheritance:
autosomal recessive

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

HPO:

³²

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: ³³ ³⁴

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

Combined immunodeficiencies

Severe combined immunodeficiency [SCID] with low or normal B-cell numbers

Orphanet: ⁵⁹

Rare immunological diseases

External Ids:

OMIM ⁵⁷ 608971

Disease Ontology ¹² DOID:0090014

ICD10 ³³ D81.2

Orphanet ⁵⁹ ORPHA169154 ORPHA169157

UMLS via Orphanet ⁷⁴ C1837028

ICD10 via Orphanet ³⁴ D81.2

MedGen ⁴² C1837028

MeSH ⁴⁴ D016511

SNOMED-CT via HPO ⁶⁹ 258211005 26284000 65363002 more

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

UniProtKB/Swiss-Prot : ⁷⁵ 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, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative and immunodeficiency 18. 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 T cell receptor signaling pathway and ICos-ICosL Pathway in T-Helper Cell. Affiliated tissues include t cells, b cells and nk cells, and related phenotypes are splenomegaly and hepatomegaly

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.

Description from OMIM: 608971

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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-Positive via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative	11.9
2	immunodeficiency 18	9.7	CD3D PTPRC
3	immunodeficiency 17	9.6	CD3D PTPRC
4	t cell deficiency	9.5	IL7R PTPRC
5	demyelinating disease	9.2	IL7R PTPRC
6	combined immunodeficiency, x-linked	9.1	CD3D IL7R PTPRC
7	severe combined immunodeficiency	9.1	CD3D IL7R PTPRC

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...

Symptoms via clinical synopsis from OMIM:

⁵⁷

AbdomenSpleen:
splenomegaly

Abdomen Gastrointestinal:
diarrhea

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

Growth Other:
failure to thrive secondary to recurrent infections

Respiratory Lung:
recurrent acute pneumonia

Abdomen Liver:
hepatomegaly

Head And Neck Ears:
otitis media

Skin Nails Hair Skin:
dermatitis

Head And Neck Mouth:
candida albicans infection
thrush

Clinical features from OMIM:

608971

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

³² (show all 11)

#	Description	HPO Source Accession
1	splenomegaly ³²	HP:0001744
2	hepatomegaly ³²	HP:0002240
3	diarrhea ³²	HP:0002014
4	otitis media ³²	HP:0000388
5	eczema ³²	HP:0000964
6	lymphadenopathy ³²	HP:0002716
7	decrease in t cell count ³²	HP:0005403
8	oral ulcer ³²	HP:0000155
9	severe combined immunodeficiency ³²	HP:0004430
10	recurrent opportunistic infections ³²	HP:0005390
11	failure to thrive secondary to recurrent infections ³²	HP:0008866

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 (show all 12)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-105	9.44	PTPRC
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-121	9.44	PTPRC
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-143	9.44	IL7R
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-149	9.44	PTPRC
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-156	9.44	IL7R
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-189	9.44	IL7R
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-197	9.44	IL7R
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-2	9.44	IL7R PTPRC
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-214	9.44	PTPRC
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-41	9.44	PTPRC
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-43	9.44	IL7R
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-50	9.44	PTPRC

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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-Positive

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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-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...

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

⁴¹

T Cells, B Cells, Nk Cells, Bone, Bone Marrow

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

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

#	Title	Authors	Year
1	A novel pathogenic frameshift variant of CD3E gene in two T-B+ NK+ SCID patients from Turkey. ( 28597365 )	Firtina S....Sayitoglu M.	2017
2	Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID. ( 21883749 )	Yu G.P....Cowan M.J.	2011
3	A novel missense RAG-1 mutation results in T-B-NK+ SCID in Athabascan-speaking Dine Indians from the Canadian Northwest Territories. ( 18701881 )	Xiao Z....Cowan M.J.	2009
4	A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK-SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome. ( 12437656 )	Cossu F....Dokal I.	2002

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

Genes related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	IL7R	Interleukin 7 Receptor	Protein Coding	1681.61	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	9843216 11023514
2	PTPRC	Protein Tyrosine Phosphatase, Receptor Type C	Protein Coding	1381.61	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	10700239 11145714 22689986
3	CD3D	CD3d Molecule	Protein Coding	19.39	GeneCards inferred via : Summaries (show sections)
4	LOC105374724	Uncharacterized LOC105374724	RNA Gene	9.67	GeneCards inferred via : Variants (show sections)

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

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

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	IL7R	p.Thr66Ile	VAR_021286	rs1494558
2	IL7R	p.Ile138Val	VAR_021288	rs1494555
3	IL7R	p.Pro132Ser	VAR_034870

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 122)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	PTPRC	PTPRC, IVS13DS, G-A, +1	single nucleotide variant	Pathogenic
2	PTPRC	PTPRC, 6-BP DEL, NT1168	deletion	Pathogenic
3	IL7R	IL7R, IVS4, G-A, -1	single nucleotide variant	Pathogenic
4	IL7R	NM_002185.4(IL7R): c.651G> A (p.Trp217Ter)	single nucleotide variant	Pathogenic	rs104893893	GRCh37	Chromosome 5, 35873695: 35873695
5	IL7R	NM_002185.4(IL7R): c.651G> A (p.Trp217Ter)	single nucleotide variant	Pathogenic	rs104893893	GRCh38	Chromosome 5, 35873593: 35873593
6	IL7R	NM_002185.4(IL7R): c.394C> T (p.Pro132Ser)	single nucleotide variant	Pathogenic	rs104893894	GRCh37	Chromosome 5, 35871172: 35871172
7	IL7R	NM_002185.4(IL7R): c.394C> T (p.Pro132Ser)	single nucleotide variant	Pathogenic	rs104893894	GRCh38	Chromosome 5, 35871070: 35871070
8	PTPRC	NM_002838.4(PTPRC): c.1624A> T (p.Lys542Ter)	single nucleotide variant	Pathogenic	rs398122383	GRCh37	Chromosome 1, 198687396: 198687396
9	PTPRC	NM_002838.4(PTPRC): c.1624A> T (p.Lys542Ter)	single nucleotide variant	Pathogenic	rs398122383	GRCh38	Chromosome 1, 198718267: 198718267
10	IL7R	NM_002185.4(IL7R): c.333T> A (p.Val111=)	single nucleotide variant	Pathogenic	rs199641706	GRCh37	Chromosome 5, 35867519: 35867519
11	IL7R	NM_002185.4(IL7R): c.333T> A (p.Val111=)	single nucleotide variant	Pathogenic	rs199641706	GRCh38	Chromosome 5, 35867417: 35867417
12	IL7R	NM_002185.4(IL7R): c.361dup (p.Ile121Asnfs)	duplication	Pathogenic	rs869312857	GRCh38	Chromosome 5, 35867445: 35867445
13	IL7R	NM_002185.4(IL7R): c.361dup (p.Ile121Asnfs)	duplication	Pathogenic	rs869312857	GRCh37	Chromosome 5, 35867547: 35867547
14	IL7R	NC_000005.9	deletion	Pathogenic		GRCh37	Chromosome 5, 35862009: 35867620
15	IL7R	NM_002185.4(IL7R): c.153G> A (p.Ser51=)	single nucleotide variant	Benign/Likely benign	rs149235072	GRCh37	Chromosome 5, 35861024: 35861024
16	IL7R	NM_002185.4(IL7R): c.153G> A (p.Ser51=)	single nucleotide variant	Benign/Likely benign	rs149235072	GRCh38	Chromosome 5, 35860922: 35860922
17	IL7R	NM_002185.4(IL7R): c.1165G> C (p.Asp389His)	single nucleotide variant	Uncertain significance	rs143596606	GRCh37	Chromosome 5, 35876373: 35876373
18	IL7R	NM_002185.4(IL7R): c.1165G> C (p.Asp389His)	single nucleotide variant	Uncertain significance	rs143596606	GRCh38	Chromosome 5, 35876271: 35876271
19	PTPRC	NM_002838.4(PTPRC): c.1268C> T (p.Thr423Ile)	single nucleotide variant	Benign/Likely benign	rs6696162	GRCh37	Chromosome 1, 198682178: 198682178
20	PTPRC	NM_002838.4(PTPRC): c.1268C> T (p.Thr423Ile)	single nucleotide variant	Benign/Likely benign	rs6696162	GRCh38	Chromosome 1, 198713049: 198713049
21	PTPRC	NM_002838.4(PTPRC): c.177C> G (p.Pro59=)	single nucleotide variant	Benign/Likely benign	rs17612648	GRCh37	Chromosome 1, 198665917: 198665917
22	PTPRC	NM_002838.4(PTPRC): c.177C> G (p.Pro59=)	single nucleotide variant	Benign/Likely benign	rs17612648	GRCh38	Chromosome 1, 198696788: 198696788
23	PTPRC	NM_002838.4(PTPRC): c.3780T> C (p.Asn1260=)	single nucleotide variant	Benign	rs1058191	GRCh37	Chromosome 1, 198725169: 198725169
24	PTPRC	NM_002838.4(PTPRC): c.3780T> C (p.Asn1260=)	single nucleotide variant	Benign	rs1058191	GRCh38	Chromosome 1, 198756040: 198756040
25	PTPRC	NM_002838.4(PTPRC): c.132A> G (p.Pro44=)	single nucleotide variant	Benign/Likely benign	rs115797104	GRCh37	Chromosome 1, 198665872: 198665872
26	PTPRC	NM_002838.4(PTPRC): c.132A> G (p.Pro44=)	single nucleotide variant	Benign/Likely benign	rs115797104	GRCh38	Chromosome 1, 198696743: 198696743
27	PTPRC	NM_002838.4(PTPRC): c.1052A> G (p.Asn351Ser)	single nucleotide variant	Benign	rs79141749	GRCh37	Chromosome 1, 198678834: 198678834
28	PTPRC	NM_002838.4(PTPRC): c.1052A> G (p.Asn351Ser)	single nucleotide variant	Benign	rs79141749	GRCh38	Chromosome 1, 198709705: 198709705
29	PTPRC	NM_002838.4(PTPRC): c.3510-3T> C	single nucleotide variant	Likely benign	rs142096878	GRCh37	Chromosome 1, 198723395: 198723395
30	PTPRC	NM_002838.4(PTPRC): c.3510-3T> C	single nucleotide variant	Likely benign	rs142096878	GRCh38	Chromosome 1, 198754266: 198754266
31	IL7R	NM_002185.4(IL7R): c.132C> T (p.Ser44=)	single nucleotide variant	Benign	rs11567704	GRCh38	Chromosome 5, 35860901: 35860901
32	IL7R	NM_002185.4(IL7R): c.132C> T (p.Ser44=)	single nucleotide variant	Benign	rs11567704	GRCh37	Chromosome 5, 35861003: 35861003
33	IL7R	NM_002185.4(IL7R): c.339A> C (p.Glu113Asp)	single nucleotide variant	Likely benign	rs11567735	GRCh37	Chromosome 5, 35867525: 35867525
34	IL7R	NM_002185.4(IL7R): c.339A> C (p.Glu113Asp)	single nucleotide variant	Likely benign	rs11567735	GRCh38	Chromosome 5, 35867423: 35867423
35	IL7R	NM_002185.4(IL7R): c.778G> A (p.Ala260Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs147153824	GRCh38	Chromosome 5, 35874520: 35874520
36	IL7R	NM_002185.4(IL7R): c.778G> A (p.Ala260Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs147153824	GRCh37	Chromosome 5, 35874622: 35874622
37	PTPRC	NM_002838.4(PTPRC): c.3670G> A (p.Val1224Ile)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs150672767	GRCh37	Chromosome 1, 198725059: 198725059
38	PTPRC	NM_002838.4(PTPRC): c.3670G> A (p.Val1224Ile)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs150672767	GRCh38	Chromosome 1, 198755930: 198755930
39	PTPRC	NM_002838.4(PTPRC): c.982A> G (p.Ile328Val)	single nucleotide variant	Uncertain significance	rs41314039	GRCh37	Chromosome 1, 198677339: 198677339
40	PTPRC	NM_002838.4(PTPRC): c.982A> G (p.Ile328Val)	single nucleotide variant	Uncertain significance	rs41314039	GRCh38	Chromosome 1, 198708210: 198708210
41	PTPRC	NM_002838.4(PTPRC): c.1297G> A (p.Asp433Asn)	single nucleotide variant	Uncertain significance	rs140403368	GRCh37	Chromosome 1, 198685816: 198685816
42	PTPRC	NM_002838.4(PTPRC): c.1297G> A (p.Asp433Asn)	single nucleotide variant	Uncertain significance	rs140403368	GRCh38	Chromosome 1, 198716687: 198716687
43	PTPRC	NM_002838.4(PTPRC): c.1737G> T (p.Leu579=)	single nucleotide variant	Likely benign	rs112713919	GRCh37	Chromosome 1, 198697485: 198697485
44	PTPRC	NM_002838.4(PTPRC): c.1737G> T (p.Leu579=)	single nucleotide variant	Likely benign	rs112713919	GRCh38	Chromosome 1, 198728356: 198728356
45	PTPRC	NM_002838.4(PTPRC): c.2395A> T (p.Ile799Phe)	single nucleotide variant	Uncertain significance	rs185420520	GRCh37	Chromosome 1, 198704373: 198704373
46	PTPRC	NM_002838.4(PTPRC): c.2395A> T (p.Ile799Phe)	single nucleotide variant	Uncertain significance	rs185420520	GRCh38	Chromosome 1, 198735244: 198735244
47	PTPRC	NM_002838.4(PTPRC): c.577A> G (p.Thr193Ala)	single nucleotide variant	Benign	rs4915154	GRCh37	Chromosome 1, 198671653: 198671653
48	PTPRC	NM_002838.4(PTPRC): c.577A> G (p.Thr193Ala)	single nucleotide variant	Benign	rs4915154	GRCh38	Chromosome 1, 198702524: 198702524
49	PTPRC	NM_002838.4(PTPRC): c.1456A> G (p.Ser486Gly)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 1, 198687228: 198687228
50	PTPRC	NM_002838.4(PTPRC): c.1456A> G (p.Ser486Gly)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 1, 198718099: 198718099

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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-Positive.

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

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 14)

#	Super pathways	Score	Top Affiliating Genes
1	T cell receptor signaling pathway ³⁷ Show member pathways T-Cell antigen Receptor (TCR) Signaling Pathway ¹ T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection ¹	11.94	CD3D PTPRC
2	ICos-ICosL Pathway in T-Helper Cell ⁶⁴ Show member pathways Calcium Mediated T-Cell Apoptosis ⁶⁴ CD28 Signaling in T-Helper Cell ⁶⁴	11.9	CD3D PTPRC
3	TCR signaling (REACTOME) ⁶⁶ Show member pathways TCR signaling ⁶⁶	11.86	CD3D PTPRC
4	B Cell Receptor Signaling Pathway (sino) ⁶⁷ Show member pathways B Cell Receptor Signaling Pathway ⁶⁷	11.83	CD3D PTPRC
5	Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁵	11.52	IL7R PTPRC
6	Translocation of ZAP-70 to Immunological synapse ⁶⁶ Show member pathways Generation of second messenger molecules ⁶⁶ PD-1 signaling ⁶⁶ Phosphorylation of CD3 and TCR zeta chains ⁶⁶	11.47	CD3D PTPRC
7	TCR signaling in naive CD4+ T cells ¹ Show member pathways TCR signaling in naive CD8+ T cells ¹	11.44	CD3D PTPRC
8	Jak-Stat Signaling Pathway ⁶⁷	11.42	IL7R PTPRC
9	Hematopoietic cell lineage ³⁷	11.35	CD3D IL7R
10	Innate Lymphoid Cell Differentiation Pathways ⁶⁵	11.22	IL7R PTPRC
11	CXCR4-mediated signaling events ¹	11.14	CD3D PTPRC
12	Dendritic Cells Developmental Lineage Pathway ⁶⁵	11.02	IL7R PTPRC
13	B Cell Development Pathways ⁶⁵	10.68	IL7R PTPRC
14	Primary immunodeficiency ³⁷	10.37	CD3D IL7R PTPRC

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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-Positive according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	external side of plasma membrane	GO:0009897	8.96	IL7R PTPRC
2	clathrin-coated vesicle membrane	GO:0030665	8.62	CD3D IL7R

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	9.37	CD3D PTPRC
2	cell surface receptor signaling pathway	GO:0007166	9.33	CD3D IL7R PTPRC
3	membrane organization	GO:0061024	9.32	CD3D IL7R
4	B cell proliferation	GO:0042100	9.26	IL7R PTPRC
5	negative regulation of T cell mediated cytotoxicity	GO:0001915	8.96	IL7R PTPRC
6	T cell differentiation	GO:0030217	8.8	CD3D IL7R PTPRC

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

¹ BioSystems

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³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia