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

T B NK SCID MCID: SVR098 MIFTS: 48	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 Expand all tables

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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 ⁵⁶ ¹² ²⁹ ⁶ ¹⁵ ³⁹

Severe Combined Immunodeficiency, T Cell-Negative, B-Cell/natural Killer-Cell Positive ⁵⁶ 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 ⁵⁶

Scid, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive ⁵⁶

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:

⁵⁶

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

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: ⁵⁸

Rare immunological diseases

External Ids:

Disease Ontology ¹² DOID:0090014

OMIM ⁵⁶ 608971

MeSH ⁴³ D016511

ICD10 ³² D81.2

ICD10 via Orphanet ³³ D81.2

UMLS via Orphanet ⁷² C1837028

Orphanet ⁵⁸ ORPHA169154 ORPHA169157

MedGen ⁴¹ C1837028

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

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 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative. 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, b cells and nk 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...

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 25)

#	Related Disease	Score	Top Affiliating Genes
1	severe combined immunodeficiency	29.5	PTPRC IL7R CD3D
2	severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative	12.1
3	jak3-deficient severe combined immunodeficiency	11.6
4	t-cell immunodeficiency with thymic aplasia	11.6
5	interleukin-7 receptor alpha deficiency	11.6
6	dyskeratosis congenita, x-linked	10.0
7	immunodeficiency 19	10.0
8	exanthem	10.0
9	dyskeratosis congenita	10.0
10	hoyeraal hreidarsson syndrome	10.0
11	histiocytic and dendritic cell cancer	9.8	PTPRC CLU
12	macular degeneration, age-related, 8	9.8	PTPRC IL7R
13	t cell deficiency	9.8	PTPRC IL7R
14	listeriosis	9.8	PTPRC IL7R
15	autoimmune disease of central nervous system	9.7	PTPRC IL7R
16	anaplastic large cell lymphoma	9.7	PTPRC CLU
17	human immunodeficiency virus infectious disease	9.7	PTPRC IL7R
18	autoimmune lymphoproliferative syndrome	9.7	PTPRC IL7R
19	bare lymphocyte syndrome, type ii	9.6	IL7R CD3D
20	demyelinating disease	9.6	PTPRC IL7R
21	celiac disease 1	9.5	PTPRC IL7R
22	t-cell acute lymphoblastic leukemia	9.4	PTPRC IL7R
23	omenn syndrome	9.2	PTPRC IL7R CD3D
24	combined t cell and b cell immunodeficiency	9.2	PTPRC IL7R CD3D
25	diabetes mellitus, type i	9.2	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...

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

⁵⁸ ³¹ (show all 41)

#	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	lymphadenopathy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002716
13	erythroderma ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001019
14	eosinophilia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001880
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	lymphocytosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0100827
20	recurrent candida infections ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0005401
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	decrease in t cell count ⁵⁸ ³¹		Frequent (79-30%)	HP:0005403
27	splenomegaly ³¹			HP:0001744
28	hepatomegaly ³¹			HP:0002240
29	lymphopenia ⁵⁸		Frequent (79-30%)
30	otitis media ³¹			HP:0000388
31	eczema ³¹			HP:0000964
32	recurrent infections ⁵⁸		Very frequent (99-80%)
33	increased antibody level in blood ⁵⁸		Occasional (29-5%)
34	pneumonia ³¹			HP:0002090
35	diarrhea ³¹			HP:0002014
36	increased circulating total ige level ⁵⁸		Occasional (29-5%)
37	severe combined immunodeficiency ³¹			HP:0004430
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

Symptoms via clinical synopsis from OMIM:

⁵⁶

Abdomen Spleen:
splenomegaly

Head And Neck Ears:
otitis media

Abdomen Gastrointestinal:
diarrhea

Skin Nails Hair Skin:
dermatitis

Respiratory Lung:
recurrent acute pneumonia

Abdomen Liver:
hepatomegaly

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

Head And Neck Mouth:
candida albicans infection
thrush

Clinical features from OMIM:

608971

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

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

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	immune system	MP:0005387	8.92	CD3D CLU IL7R 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:

⁴⁰

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

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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:

(show top 50) (show all 53)

#	Title	Authors	PMID	Year
1	Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency. ⁶¹ ⁶ ⁵⁶	Puel A...Leonard WJ	9843216	1998
2	CD45-deficient severe combined immunodeficiency caused by uniparental disomy. ⁵⁶ ⁶	Roberts JL...Wiest DL	22689986	2012
3	A deletion in the gene encoding the CD45 antigen in a patient with SCID. ⁵⁶ ⁶	Tchilian EZ...Beverley PC	11145714	2001
4	A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency. ⁶ ⁵⁶	Roifman CM...Sharfe N	11023514	2000
5	Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease. ⁶	Kung C...Thomas ML	10700239	2000
6	Severe combined immunodeficiency with abnormalities in expression of the common leucocyte antigen, CD45. ⁵⁶	Cale CM...Morgan G	9068311	1997
7	[Ichtyosiform erythroderma revealing a severe combined immunodeficiency]. ⁶¹	Ghariani Fetoui N...Denguezli M	31973905	2020
8	FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans. ⁶¹	Du Q...van Oers NS	31566583	2019
9	Hematopoietic Stem Cell Transplant for the Treatment of X-MAID. ⁶¹	Henrickson SE...Heimall JR	31139601	2019
10	JAK3 mutations in Italian patients affected by SCID: New molecular aspects of a long-known gene. ⁶¹	Di Matteo G...Cancrini C	30032486	2018
11	Corrigendum: A Novel Homozygous JAK3 Mutation Leading to T-B+NK- SCID in Two Brazilian Patients. ⁶¹	Barreiros LA...Condino-Neto A	30515370	2018
12	A Novel Homozygous JAK3 Mutation Leading to T-B+NK- SCID in Two Brazilian Patients. ⁶¹	Barreiros LA...Condino-Neto A	30177960	2018
13	A novel pathogenic frameshift variant of CD3E gene in two T-B+ NK+ SCID patients from Turkey. ⁶¹	Firtina S...Sayitoglu M	28597365	2017
14	Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing. ⁶¹	Engelhardt KR...Hambleton S	27807805	2017
15	Clinical, Laboratory, and Molecular Findings for 63 Patients With Severe Combined Immunodeficiency: A Decade´s Experience. ⁶¹	Fazlollahi MR...Moin M	28266921	2017
16	SCID pigs: An emerging large animal NK model. ⁶¹	Powell EJ...Tuggle CK	29152615	2017
17	Novel compound heterozygous mutations in a Japanese girl with Janus kinase 3 deficiency. ⁶¹	Sato T...Morio T	27593409	2016
18	Partial loss of interleukin 2 receptor gamma function in pigs provides mechanistic insights for the study of human immunodeficiency syndrome. ⁶¹	Choi YJ...Kim JH	27463006	2016
19	Recombinase Activating Gene 1 Deficiencies Without Omenn Syndrome May Also Present With Eosinophilia and Bone Marrow Fibrosis. ⁶¹	Ulusoy E...Kutukculer N	27081423	2016
20	Deep intronic mis-splicing mutation in JAK3 gene underlies T-B+NK- severe combined immunodeficiency phenotype. ⁶¹	Stepensky P...Barak Y	26769277	2016
21	Not All SCID Pigs Are Created Equally: Two Independent Mutations in the Artemis Gene Cause SCID in Pigs. ⁶¹	Waide EH...Tuggle CK	26320255	2015
22	Cytoreductive conditioning for severe combined immunodeficiency--help or hindrance? ⁶¹	Laberko A...Gennery AR	26099343	2015
23	Severe combined immunodeficiency in Serbia and Montenegro between years 1986 and 2010: a single-center experience. ⁶¹	Pasic S...Abinun M	24481607	2014
24	Rapid Flow cytometric prenatal diagnosis of primary immunodeficiency (PID) disorders. ⁶¹	Mishra A...Madkaikar M	24535004	2014
25	Severe combined immunodeficiency caused by a new homozygous RAG1 mutation with progressive encephalopathy. ⁶¹	Dhingra N...Sachdeva A	24333136	2014
26	SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID. ⁶¹	Schuetz C...Cowan MJ	24144642	2014
27	Atypical combined immunodeficiency due to Artemis defect: a case presenting as hyperimmunoglobulin M syndrome and with LGLL. ⁶¹	Bajin IY...Sanal O	23911390	2013
28	Variable presentation of primary immune deficiency: two cases with CD3 gamma deficiency presenting with only autoimmunity. ⁶¹	Tokgoz H...Morgan NV	23590417	2013
29	Two SCID cases with Cernunnos-XLF deficiency successfully treated by hematopoietic stem cell transplantation. ⁶¹	Cagdas D...Tezcan I	21535335	2012
30	Transcription factor zinc finger and BTB domain 1 is essential for lymphocyte development. ⁶¹	Punwani D...Puck JM	22753936	2012
31	Novel mutatıons and diverse clinical phenotypes in recombinase-activating gene 1 deficiency. ⁶¹	Kutukculer N...Berdeli A	22424479	2012
32	Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID. ⁶¹	Yu GP...Cowan MJ	21883749	2011
33	Hyperbilirubinemia and rapid fatal hepatic failure in severe combined immunodeficiency caused by adenosine deaminase deficiency (ADA-SCID). ⁶¹	Kuhl JS...von Bernuth H	21271505	2011
34	Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID. ⁶¹	Karaca NE...Kutukculer N	19458910	2009
35	Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia. ⁶¹	Alsmadi O...Al-Mousa H	19912631	2009
36	Disseminated bacille Calmette-Guérin in Iranian children with severe combined immunodeficiency. ⁶¹	Sadeghi-Shabestari M...Rezaei N	19403320	2009
37	Recombinase-activating gene 1 immunodeficiency: different immunological phenotypes in three siblings. ⁶¹	Pasic S...Slavkovic B	19243569	2009
38	Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion. ⁶¹	Shiow LR...Puck JM	19097825	2009
39	A novel missense RAG-1 mutation results in T-B-NK+ SCID in Athabascan-speaking Dine Indians from the Canadian Northwest Territories. ⁶¹	Xiao Z...Cowan MJ	18701881	2009
40	Novel RAG2 mutation in a patient with T- B- severe combined immunodeficiency and disseminated BCG disease. ⁶¹	Sadeghi-Shabestari M...Rezaei N	20128425	2009
41	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	Gennery AR...Johnson D	18505430	2008
42	Defective Artemis nuclease is characterized by coding joints with microhomology in long palindromic-nucleotide stretches. ⁶¹	van der Burg M...van Gent DC	18034425	2007
43	GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes. ⁶¹	Haq IJ...Gennery AR	17572155	2007
44	Severe combined immune deficiency in an adenosine deaminase-deficient patient. ⁶¹	Ozdemir O	16724639	2006
45	A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation. ⁶¹	van der Burg M...van Gent DC	16357942	2006
46	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	Noordzij JG...van Dongen JJ	12406895	2003
47	A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome. ⁶¹	Cossu F...Dokal I	12437656	2002
48	A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans. ⁶¹	Li L...Cowan MJ	12055248	2002
49	B cell function after haploidentical in utero bone marrow transplantation in a patient with severe combined immunodeficiency. ⁶¹	Bartolome J...Gil J	11979315	2002
50	Bone marrow transplantation for T-B- severe combined immunodeficiency disease in Athabascan-speaking native Americans. ⁶¹	O'Marcaigh AS...Cowan MJ	11360109	2001

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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	1672.97	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	9843216 11023514
2	PTPRC	Protein Tyrosine Phosphatase Receptor Type C	Protein Coding	1372.82	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	11145714 22689986 10700239
3	CD3D	CD3d Molecule	Protein Coding	19.41	GeneCards inferred via : Summaries Variants (show sections)
4	CLU	Clusterin	Protein Coding	6.31	DISEASES inferred ¹⁵

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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-Positive:

⁶ (show top 50) (show all 321) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	IL7R	NM_002185.5(IL7R):c.753dup (p.Ser252fs)	duplication	Pathogenic	464438	rs1554067182	5:35874596-35874597	5:35874494-35874495
2	IL7R	NC_000005.10:g.(?_35867286)_(35867483_?)del	deletion	Pathogenic	533085		5:35867388-35867585	5:35867286-35867483
3	IL7R	NM_002185.5(IL7R):c.291_294del (p.Lys97fs)	deletion	Pathogenic	533056	rs1554066684	5:35867474-35867477	5:35867372-35867375
4	IL7R	NM_002185.5(IL7R):c.704C>G (p.Ser235Ter)	SNV	Pathogenic	578174	rs766555082	5:35873748-35873748	5:35873646-35873646
5	IL7R	NM_002185.5(IL7R):c.437_438del (p.Phe146fs)	deletion	Pathogenic	565662	rs1561423197	5:35871214-35871215	5:35871112-35871113
6	PTPRC	NM_002838.5(PTPRC):c.2295C>G (p.Tyr765Ter)	SNV	Pathogenic	635760		1:198704273-198704273	1:198735144-198735144
7	PTPRC	NM_002838.5(PTPRC):c.2362_2363delinsT (p.Arg788fs)	indel	Pathogenic	662609		1:198704340-198704341	1:198735211-198735212
8	IL7R	NM_002185.5(IL7R):c.675C>A (p.Tyr225Ter)	SNV	Pathogenic	664754		5:35873719-35873719	5:35873617-35873617
9	IL7R	NC_000005.10:g.(?_35860832)_(35871233_?)del	deletion	Pathogenic	650715		5:35860934-35871335	5:35860832-35871233
10	IL7R	NM_002185.5(IL7R):c.355A>T (p.Lys119Ter)	SNV	Pathogenic	642787		5:35867541-35867541	5:35867439-35867439
11	IL7R	NM_002185.5(IL7R):c.221+1G>A	SNV	Pathogenic	830061		5:35861093-35861093	5:35860991-35860991
12	PTPRC	NM_002838.5(PTPRC):c.1450+1G>A	SNV	Pathogenic	14457		1:198685970-198685970	1:198716841-198716841
13	PTPRC	PTPRC, 6-BP DEL, NT1168	deletion	Pathogenic	14458
14	IL7R	NM_002185.5(IL7R):c.538-1G>A	SNV	Pathogenic	14841	rs1315265916	5:35873581-35873581	5:35873479-35873479
15	IL7R	NM_002185.5(IL7R):c.651G>A (p.Trp217Ter)	SNV	Pathogenic	14842	rs104893893	5:35873695-35873695	5:35873593-35873593
16	IL7R	NM_002185.5(IL7R):c.394C>T (p.Pro132Ser)	SNV	Pathogenic	14843	rs104893894	5:35871172-35871172	5:35871070-35871070
17	IL7R	NM_002185.5(IL7R):c.353G>A (p.Cys118Tyr)	SNV	Pathogenic	36392	rs193922641	5:35867539-35867539	5:35867437-35867437
18	PTPRC	NM_002838.5(PTPRC):c.1624A>T (p.Lys542Ter)	SNV	Pathogenic	60723	rs398122383	1:198687396-198687396	1:198718267-198718267
19	IL7R	NM_002185.5(IL7R):c.333T>A (p.Val111=)	SNV	Pathogenic	208851	rs199641706	5:35867519-35867519	5:35867417-35867417
20	IL7R	NM_002185.5(IL7R):c.361dup (p.Ile121fs)	duplication	Pathogenic	224841	rs869312857	5:35867540-35867541	5:35867438-35867439
21	IL7R		deletion	Pathogenic	224842		5:35862009-35867620
22	IL7R	NM_002185.5(IL7R):c.221+2T>G	SNV	Pathogenic	265195	rs200044623	5:35861094-35861094	5:35860992-35860992
23	PTPRC	NM_002838.5(PTPRC):c.2403+1G>A	SNV	Likely pathogenic	533063	rs1553243550	1:198704382-198704382	1:198735253-198735253
24	IL7R	NM_002185.5(IL7R):c.83-1G>A	SNV	Likely pathogenic	569326	rs200803157	5:35860953-35860953	5:35860851-35860851
25	PTPRC	NM_002838.5(PTPRC):c.2142+7A>G	SNV	Conflicting interpretations of pathogenicity	626155	rs764731559	1:198701692-198701692	1:198732563-198732563
26	PTPRC	NM_002838.5(PTPRC):c.3073-6A>G	SNV	Conflicting interpretations of pathogenicity	533069	rs191867796	1:198719615-198719615	1:198750486-198750486
27	PTPRC	NM_002838.5(PTPRC):c.566T>A (p.Ile189Asn)	SNV	Conflicting interpretations of pathogenicity	516554	rs201715157	1:198671642-198671642	1:198702513-198702513
28	PTPRC	NM_002838.5(PTPRC):c.1568A>T (p.Glu523Val)	SNV	Conflicting interpretations of pathogenicity	506974	rs116464756	1:198687340-198687340	1:198718211-198718211
29	IL7R	NM_002185.5(IL7R):c.778G>A (p.Ala260Thr)	SNV	Conflicting interpretations of pathogenicity	418258	rs147153824	5:35874622-35874622	5:35874520-35874520
30	PTPRC	NM_002838.5(PTPRC):c.3670G>A (p.Val1224Ile)	SNV	Conflicting interpretations of pathogenicity	440224	rs150672767	1:198725059-198725059	1:198755930-198755930
31	IL7R	NM_002185.5(IL7R):c.1316C>G (p.Thr439Ser)	SNV	Conflicting interpretations of pathogenicity	715277		5:35876524-35876524	5:35876422-35876422
32	IL7R	NM_002185.5(IL7R):c.662G>T (p.Ser221Ile)	SNV	Conflicting interpretations of pathogenicity	134528	rs587778405	5:35873706-35873706	5:35873604-35873604
33	IL7R	NM_002185.5(IL7R):c.83-2A>T	SNV	Conflicting interpretations of pathogenicity	353259	rs886060531	5:35860952-35860952	5:35860850-35860850
34	IL7R	NM_002185.5(IL7R):c.707G>A (p.Gly236Glu)	SNV	Conflicting interpretations of pathogenicity	353268	rs201084372	5:35874551-35874551	5:35874449-35874449
35	IL7R	NM_002185.5(IL7R):c.602A>G (p.Tyr201Cys)	SNV	Conflicting interpretations of pathogenicity	353266	rs145810271	5:35873646-35873646	5:35873544-35873544
36	PTPRC	NM_002838.5(PTPRC):c.2526C>T (p.Ser842=)	SNV	Conflicting interpretations of pathogenicity	380963	rs373509702	1:198711120-198711120	1:198741991-198741991
37	PTPRC	NM_002838.5(PTPRC):c.782G>T (p.Gly261Val)	SNV	Conflicting interpretations of pathogenicity	379207	rs142941257	1:198675959-198675959	1:198706830-198706830
38	PTPRC	NM_002838.5(PTPRC):c.3545T>C (p.Leu1182Ser)	SNV	Uncertain significance	190992	rs114970039	1:198723433-198723433	1:198754304-198754304
39	IL7R	NM_002185.5(IL7R):c.376A>C (p.Ile126Leu)	SNV	Uncertain significance	353263	rs201207454	5:35867562-35867562	5:35867460-35867460
40	IL7R	NM_002185.5(IL7R):c.*2275C>T	SNV	Uncertain significance	353303	rs886060541	5:35878863-35878863	5:35878761-35878761
41	IL7R	NM_002185.5(IL7R):c.990G>A (p.Gln330=)	SNV	Uncertain significance	353269	rs201093124	5:35876198-35876198	5:35876096-35876096
42	IL7R	NM_002185.5(IL7R):c.*539C>T	SNV	Uncertain significance	353275	rs886060532	5:35877127-35877127	5:35877025-35877025
43	IL7R	NM_002185.5(IL7R):c.419G>A (p.Arg140Gln)	SNV	Uncertain significance	353264	rs200373233	5:35871197-35871197	5:35871095-35871095
44	IL7R	NM_002185.5(IL7R):c.*574G>T	SNV	Uncertain significance	353277	rs886060534	5:35877162-35877162	5:35877060-35877060
45	IL7R	NM_002185.5(IL7R):c.*663T>A	SNV	Uncertain significance	353278	rs763740085	5:35877251-35877251	5:35877149-35877149
46	IL7R	NM_002185.5(IL7R):c.*1702A>C	SNV	Uncertain significance	353298	rs147528974	5:35878290-35878290	5:35878188-35878188
47	IL7R	NM_002185.5(IL7R):c.760G>A (p.Ala254Thr)	SNV	Uncertain significance	134531	rs137868226	5:35874604-35874604	5:35874502-35874502
48	IL7R	NM_002185.5(IL7R):c.1096T>C (p.Ser366Pro)	SNV	Uncertain significance	134539	rs201671392	5:35876304-35876304	5:35876202-35876202
49	IL7R	NM_002185.5(IL7R):c.1357T>C (p.Ser453Pro)	SNV	Uncertain significance	134540	rs141919625	5:35876565-35876565	5:35876463-35876463
50	IL7R	NM_002185.5(IL7R):c.1165G>C (p.Asp389His)	SNV	Uncertain significance	353270	rs143596606	5:35876373-35876373	5:35876271-35876271

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

Sources

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 12)

#	Super pathways	Score	Top Affiliating Genes
1	Innate Immune System ⁶⁵ Show member pathways Immune System ⁶⁵ Neutrophil degranulation ⁶⁵	13.39	PTPRC IL7R CLU CD3D
2	ICos-ICosL Pathway in T-Helper Cell ⁶³ Show member pathways Calcium Mediated T-Cell Apoptosis ⁶³ CD28 Signaling in T-Helper Cell ⁶³	11.89	PTPRC CD3D
3	TCR signaling (REACTOME) ⁶⁵ Show member pathways TCR signaling ⁶⁵	11.83	PTPRC CD3D
4	Hematopoietic Stem Cells and Lineage-specific Markers ⁶⁴	11.52	PTPRC IL7R
5	Translocation of ZAP-70 to Immunological synapse ⁶⁵ Show member pathways Generation of second messenger molecules ⁶⁵ PD-1 signaling ⁶⁵ Phosphorylation of CD3 and TCR zeta chains ⁶⁵	11.47	PTPRC CD3D
6	TCR signaling in naive CD4+ T cells ¹ Show member pathways TCR signaling in naive CD8+ T cells ¹	11.44	PTPRC CD3D
7	Hematopoietic cell lineage ³⁶	11.36	IL7R CD3D
8	Innate Lymphoid Cells Differentiation ⁶⁴	11.22	PTPRC IL7R
9	Jak Stat Signaling Pathway ⁶⁶ Show member pathways Commom Cytokine Receptor G Chain Siganaling Pathway ⁶⁶	11.18	PTPRC IL7R
10	CXCR4-mediated signaling events ¹	11.14	PTPRC CD3D
11	Dendritic Cells Developmental Lineage Pathway ⁶⁴	11.02	PTPRC IL7R
12	Primary immunodeficiency ³⁶	10.38	PTPRC IL7R CD3D

Sources

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	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 surface receptor signaling pathway	GO:0007166	9.43	PTPRC IL7R CD3D
4	cell morphogenesis	GO:0000902	9.4	IL7R CLU
5	positive regulation of tumor necrosis factor production	GO:0032760	9.37	PTPRC CLU
6	B cell proliferation	GO:0042100	9.32	PTPRC IL7R
7	positive thymic T cell selection	GO:0045059	9.16	PTPRC CD3D
8	negative regulation of T cell mediated cytotoxicity	GO:0001915	8.96	PTPRC IL7R
9	T cell differentiation	GO:0030217	8.8	PTPRC IL7R CD3D

Sources

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

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

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

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:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

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

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:

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

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-Positive:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

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

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

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:

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:

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:

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):

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-Positive:

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

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

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:

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:

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

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