Combined Immunodeficiency malady

Wikipedia: Combined immunodeficiencies (or combined immunity deficiency) are immunodeficiency disorders that...⁴⁴ more...

MalaCards: Combined Immunodeficiency, also known as congenital combined immunodeficiency, is related to immunodeficiency and gamma chain deficiency. An important gene associated with Combined Immunodeficiency is IL2RG (interleukin 2 receptor, gamma), and among its related pathways are Jak-STAT signaling pathway and Primary immunodeficiency. The compounds cyclophosphamide and sp 600125 have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and lung, and related mouse phenotypes are respiratory system and endocrine/exocrine gland.

combined immunodeficiency 7 congenital combined immunodeficiency 43

Diseases related to combined immunodeficiency by text searches and GeneDecks gene sharing:

(show top 50)    (show all 990)

id	Related Disease	Score	Top Affiliating Genes
1	immunodeficiency	38.8	CIITA, ZAP70, LCK, CD28, CD4, CD40LG
2	gamma chain deficiency	37.1	KITLG, LMO2, CFP, JAK1, AR, IL13
3	adenosine deaminase deficiency	36.0	BCL2, PNP, AHCY, ADA
4	omenn syndrome	33.0	RAG2, RAG1, LIG4, IL10, IL1RN, IL2RG
5	severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive	32.2	CD3D, CD3E, PTPRC
6	autoimmune thyroiditis	30.7	CIITA, CD40, ITGAL, IL2RA, IL4, IFNG
7	arthritis	30.6	IL17A, IL1B, IL6, TNFRSF1A, TNFSF11, PLAUR
8	rheumatoid arthritis	30.5	CIITA, CD40, IL10, IL1B, IL1RN, IL2
9	mhc class ii deficiency	30.4	RFX1, RFX5, RFXANK, RFXAP, CIITA
10	hepatitis	30.2	SELP, IL2RB, IFNB1, TNFRSF1A, LTF, THPO
11	severe combined immunodeficiency	30.1	LRRC2, RFX1, RFX5, RFXANK, RFXAP, KITLG
12	adult t-cell leukemia	29.8	MYC, BCL2, BCL6, CIITA, ZAP70, LCK
13	artemis deficiency	29.7	RAG2, RAG1, XRCC4, DCLRE1C, PRKDC
14	multiple myeloma	29.7	CD19, ITGA4, IL6, TNFSF11, ABCB1
15	agammaglobulinemia	29.7	CD40LG, CD40, IL2, IL4, CXCL12, CXCR4
16	hodgkin's lymphoma	29.6	SELP, RAG2, RAG1, BCL2, BCL6, ZAP70
17	t-cell leukemia	29.6	LMO2, MYC, RAG2, RAG1, BCL2, ZAP70
18	chronic granulomatous disease	29.2	CD40LG, IL4R, CCR1, IFNG, CORO1A, LTF
19	malaria	29.1	CD40LG, IL10, IL4, IL4R, IFNG, NOS2
20	bare lymphocyte syndrome	29.0	RFX1, RFX5, RFXANK, RFXAP, CIITA
21	subacute thyroiditis	28.9	TPO, TSHR, TG
22	plasmacytoma	28.8	VEGFA, MYC, BCL2, BCL6, CIITA, CD27
23	chronic myeloid leukemia	28.7	KITLG, SELP, MYC, BCL2, CD34, FLT3
24	lymphopenia	28.6	RAG2, RAG1, CIITA, ZAP70, LCK, CD28
25	cerebral malaria	28.5	SELP, IL10, IL1B, IL1R1, IL1RN, IFNG
26	short stature	28.5	RECQL4, FMR1, AR, INS, IL2RG, IGFBP1
27	burkitt's lymphoma	28.4	MYC, RAG1, BCL2, BCL6, ZAP70, LCK
28	childhood leukemia	28.3	BCL2, BAX, XRCC4, CD34, IL2RA, IL3
29	hypercalcemia	28.3	IL1B, IL2, IL2RB, IL3, IL6, IGF1
30	hypothyroidism	28.3	IFNB1, TPO, TSHR, TG, DPP4
31	myelodysplastic syndrome	28.1	KITLG, CD34, FLT3LG, FLT3, FHIT, IL3
32	anaplastic large cell lymphoma	28.1	PCNA, MYC, RAG2, BCL2, BCL6, ZAP70
33	renal cell carcinoma	27.9	PCNA, SELP, VHL, VEGFA, KDR, CIITA
34	breast cancer	27.9	NBN, VEGFA, LIG4, KDR, BCL2, XRCC4
35	b-cell lymphomas	27.5	NBN, MYC, BCL2, BCL6, CIITA, ZAP70
36	alopecia	27.4	KITLG, CIITA, CD4, CD34, CD40, FOXN1
37	non-hodgkin lymphoma	27.1	KITLG, NBN, MYC, RAG1, BCL2, BCL6
38	acute lymphoblastic leukemia	26.8	KITLG, NBN, LMO2, RAG1, BCL2, BCL6
39	lung adenocarcinoma	26.7	VEGFA, KDR, BCL2, MUC16, BAX, MMP14
40	graves' disease	26.4	KITLG, MYC, BCL2, CIITA, BAX, CD28
41	fibrosarcoma	26.4	LRRC2, KITLG, VHL, VEGFA, KDR, BCL2
42	leukemia/lymphoma	26.3	KITLG, NBN, VEGFA, MYC, RAG1, BCL2
43	obesity	25.6	PCNA, SELP, VEGFA, CIITA, MUC16, LCT
44	hematopoiesis	25.5	KITLG, PCNA, VEGFA, LMO2, RAG1, KDR
45	pneumonia	24.4	VEGFA, RAD54L, BCL2, BCL6, MUC16, MUC7
46	prostate carcinoma	24.3	PCNA, SELP, VEGFA, MYC, BCL2, LCK
47	thyroiditis	24.1	KITLG, PCNA, NBN, SELP, VHL, VEGFA
48	thyroid cancer	24.1	PCNA, NBN, VEGFA, MYC, LIG4, KDR
49	prostatitis	23.9	RECQL4, KITLG, PCNA, NBN, SELP, VHL
50	myeloid leukemia	23.9	KITLG, PCNA, NBN, SELP, VEGFA, LMO2

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to combined immunodeficiency:

²²

MGI Mouse Phenotypes related to combined immunodeficiency:

²⁵ (show all 27)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	respiratory system phenotype	MP:0005388	10.6	SELP, RAG2, RAG1, BCL6, IL2RG, HOXB4
2	endocrine/exocrine gland phenotype	MP:0005379	10.3	NBN, XRCC4, CD40LG, FOXN1, FMR1, INSL3
3	renal/urinary system phenotype	MP:0005367	10.0	SELP, VHL, LMO2, RAG1, BCL2, BAX
4	craniofacial phenotype	MP:0005382	9.9	RECQL4, KITLG, NBN, RAG2, LIG4, XRCC4
5	other phenotype	MP:0005395	9.8	KDR, CD40LG, MMP14, IL13, IL2, TNFRSF1A
6	embryogenesis phenotype	MP:0005380	9.5	RECQL4, NBN, VHL, LMO2, MYC, LCK
7	liver/biliary system phenotype	MP:0005370	9.4	RFX5, VHL, VEGFA, LMO2, RAG2, RAG1
8	hearing/vestibular/ear phenotype	MP:0005377	9.2	KITLG, MYC, RAG1, BCL2, BAX, GRB2
9	no phenotypic analysis	MP:0003012	9.2	PCNA, VEGFA, MYC, CD4, CD5, INS
10	normal phenotype	MP:0002873	9.0	VHL, VEGFA, MYC, RAG2, RAG1, KDR
11	nervous system phenotype	MP:0003631	8.6	KITLG, NBN, SELP, LMO2, MYC, RAG2
12	reproductive system phenotype	MP:0005389	8.5	NBN, VHL, VEGFA, RAG2, LIG4, BCL6
13	adipose tissue phenotype	MP:0005375	8.5	MYC, BCL2, AR, INS, IL1R1, IL6
14	integument phenotype	MP:0010771	8.5	RECQL4, KITLG, SELP, VHL, LMO2, MYC
15	skeleton phenotype	MP:0005390	8.4	KITLG, VHL, VEGFA, MYC, RAG2, KDR
16	growth/size phenotype	MP:0005378	8.1	RECQL4, KITLG, NBN, SELP, VHL, LMO2
17	behavior/neurological phenotype	MP:0005386	8.1	NBN, SELP, RAG2, RAG1, LIG4, KDR
18	digestive/alimentary phenotype	MP:0005381	8.1	RECQL4, KITLG, VHL, VEGFA, MYC, RAG2
19	immune system phenotype	MP:0005387	8.1	RFX5, RECQL4, NBN, SELP, LMO2, RAD54L
20	vision/eye phenotype	MP:0005391	7.9	RECQL4, KITLG, SELP, VEGFA, RAG1, KDR
21	muscle phenotype	MP:0005369	7.4	VHL, VEGFA, MYC, KDR, BCL2, BCL6
22	tumorigenesis	MP:0002006	7.2	RECQL4, KITLG, NBN, VHL, LMO2, MYC
23	mortality/aging	MP:0010768	7.0	RFX1, RECQL4, KITLG, SELP, VHL, VEGFA
24	hematopoietic system phenotype	MP:0005397	6.8	RFX5, RECQL4, PCNA, NBN, VHL, LMO2
25	cardiovascular system phenotype	MP:0005385	6.4	RFX5, KITLG, SELP, VHL, VEGFA, LMO2
26	cellular phenotype	MP:0005384	5.9	RECQL4, KITLG, PCNA, NBN, SELP, VHL
27	homeostasis/metabolism phenotype	MP:0005376	5.1	KITLG, SELP, VHL, VEGFA, MYC, RAG2

Articles related to combined immunodeficiency:

(show top 50)    (show all 281)

id	Title	Authors	Year	Affiliating Genes
1	Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion. (19097825)	Shiow L.R.... Puck J.M.	2009	CORO1A
2	Intensification therapy with anti-parathyroid hormone-related protein antibody plus zoledronic acid for bone metastases of small cell lung cancer cells in severe combined immunodeficient mice. (19139120)	Yamada T.... Sone S.	2009	PTHLH
3	Inhibition of CD26 in human cord blood CD34+ cells enhances their engraftment of nonobese diabetic/severe combined immunodeficiency mice. (17610364)	Campbell T.B.... Broxmeyer H.E.	2007	DPP4
4	Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiency. (17369490)	Chinen J.... Puck J.M.	2007	IL2, IL2RG
5	Carrier frequency of a nonsense mutation in the adenosine deaminase (ADA) gene implies a high incidence of ADA-deficient severe combined immunodeficiency (SCID) in Somalia and a single, common haplotype indicates common ancestry. (17181544)	Sanchez J.J.... Gaspar H.B.	2007	ADA
6	A severe form of human combined immunodeficiency due to mutations in DNA ligase IV. (16585603)	Enders A.... Ehl S.	2006	LIG4
7	Disseminated cutaneous bacille Calmette-GuAcrin infection identified by polymerase chain reaction in a patient with X-linked severe combined immunodeficiency. (17155998)	Huang L.H.... Tzen C.Y.	2006	IL2RG
8	Hypomorphic RAG1 mutations and CMV infection: a new phenotype of severe combined immunodeficiency (16527199)	Le Deist F.... Fischer A.	2006	RAG1
9	Successful umbilical cord blood stem cell transplantation in a patient with Rothmund-Thomson syndrome and combined immunodeficiency. (16630167)	Broom M.A.... Shah M.	2006	RECQL4
10	Novel RAG1 mutation in a case of severe combined immunodeficiency. (16061569)	Zhang J.... Roifman C.M.	2005	RAG1, RAG2
11	Antitumor vascular strategy for controlling experimental metastatic spread of human small-cell lung cancer cells with ZD6474 in natural killer cell-depleted severe combined immunodeficient mice. (16361567)	Yano S.... Sone S.	2005	KDR, HGS
12	Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome. (15025726)	Tabori U.... Dalal I.	2004	RAG2
13	Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review. (14726805)	Kalman L.... Buckley R.	2004	PTPRC, AR, ADA
14	Transplantation of X-linked severe combined immunodeficient dogs with CD34+ bone marrow cells. (12014808)	Hartnett B.J.... Felsburg P.J.	2002	IL2, IL4, IL15
15	Cognitive and behavioral abnormalities in adenosine deaminase deficient severe combined immunodeficiency. (11445793)	Rogers M.H.... Gaspar H.B.	2001	ADA
16	Reduced memory B-cell populations in boys with B-cell dysfunction after bone marrow transplantation for X-linked severe combined immunodeficiency. (11298599)	Ting S.S.... Ziegler J.B.	2001	CD27
17	Adoptive immunotherapy using specific cytotoxic T lymphocytes against human lung-cancer-engrafted severe combined immunodeficiency mice. (10793495)	Imahayashi S.... Yasumoto K.	2000	IL2
18	Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease. (10700239)	Kung C.... Thomas M.L.	2000	PTPRC
19	B-cell function in canine X-linked severe combined immunodeficiency. (10889304)	Hartnett B.J.... Felsburg P.J.	2000	IL2, IL4, IL9
20	Role of interleukin 10 and transforming growth factor beta1 in the angiogenesis and metastasis of human prostate primary tumor lines from orthotopic implants in severe combined immunodeficiency mice. (10100726)	Stearns M.E.... Wang M.	1999	TGFB1, TIMP1, IL10
21	Interleukin-13 and human immunoglobulin E production in severe combined immunodeficiency mice transplanted with human peripheral blood lymphocytes. (10023859)	Steinsvik T.E.... Lovik M.	1999	IL13
22	Characterization of an MDR1 retroviral bicistronic vector for correction of X-linked severe combined immunodeficiency. (9797872)	Kleiman S.E.... Gottesman M.M.	1998	IL2RG
23	Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. (10200056)	Arrendondo-Vega F.X.... Hershfield M.S.	1998	ADA
24	Over-expression of urokinase receptor in human epidermoid-carcinoma cell line (HEp3) increases tumorigenicity on chorio-allantoic membrane and in severe-combined-immunodeficient mice. (9650562)	Lyu M.A.... Kook Y.H.	1998	PLAUR
25	Adenosine deaminase-deficient mice generated using a two-stage genetic engineering strategy exhibit a combined immunodeficiency. (9478961)	Blackburn M.R.... Kellems R.E.	1998	ADA, AHCY
26	Epstein-Barr virus-infected marmoset cells transfected with c-myc do not form lymphomas in mice with severe combined immunodeficiency. (9719630)	Salimi B.... Katz B.Z.	1998	MYC
27	Mutations in the gene for the common gamma chain (gammac) in X-linked severe combined immunodeficiency. (9921912)	Fugmann S.D.... Schwarz K.	1998	IL2, IL4, IL2RG
28	Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment. (9753072)	Bozzi F.... Candotti F.	1998	JAK3, INSL3
29	Epithelial glycoprotein-2 expression is subject to regulatory processes in epithelial-mesenchymal transitions during metastases: an investigation of human cancers transplanted into severe combined immunodeficient mice. (9873999)	JojoviA8 M.... Schumacher U.	1998	EPCAM
30	Direct evidence of autosomal recessive inheritance of Arg24 to termination codon in purine nucleoside phosphorylase gene in a family with a severe combined immunodeficiency patient. (9737781)	Sasaki Y.... Yamashita R.	1998	PNP
31	Interleukin-4 signaling in B lymphocytes from patients with X-linked severe combined immunodeficiency. (9054429)	Taylor N.... Johnston J.A.	1997	JAK3, JAK1, IL4
32	Cellular radiosensitivity in human severe-combined-immunodeficiency (SCID) syndromes. (9132827)	Sproston A.R.... Hendry J.H.	1997	ADA
33	The signal transduction mechanism of IL-4 in X-linke d severe combined immunodeficiency patients (9095654)	Izuhara K.	1997	IL4
34	Differential effects of human interferon alpha and interferon gamma on xenografted human thyroid tissue in severe combined immunodeficient mice and nude mice. (9069581)	Kawai K.... VolpAc R.	1997	ICAM1, IFNG
35	In vitro correction of JAK3-deficient severe combined immunodeficiency by retroviral-mediated gene transduction. (8676091)	Candotti F.... Blaese R.M.	1996	JAK3, IL2, IL4
36	Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells. (8900089)	Stephan V.... de Saint Basile G.	1996	IL2RG
37	Interleukin-4 enhances the survival of severe combined immunodeficient mice engrafted with human B-cell precursor leukemia. (8639851)	Mitchell P.L.... Millar J.L.	1996	IL4
38	Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency. (7668284)	Pepper A.E.... Puck J.M.	1995	IL2, IL2RG
39	Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency. (7883965)	Schmalstieg F.C.... Goldman A.S.	1995	IL2RG, IL18R1
40	Characterization of B-cell lines established from two X-linked severe combined immunodeficiency patients: interleukin-15 binds to the B cells but is not internalized efficiently. (7632950)	Kumaki S.... Cosman D.	1995	IL2, IL2RB, IL15
41	Inability of interferon-gamma and aminoguanidine to a lter Cryptosporidium parvum infection in mice with severe combined immunodefici ency. (7515109)	Kuhls T.L.... Greenfield R.A.	1994	IFNG
42	The molecular basis of X-linked agammaglobulinemia, hyper-IgM syndrome, and severe combined immunodeficiency in humans. (9371254)	Aruffo A.... Ochs H.D.	1994	IL2RA, CD40LG
43	Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID). (8299233)	Yang D.R.... Hirschhorn R.	1994	ADA
44	T lymphocyte development and function in dogs with X-linked severe combined immunodeficiency. (7930609)	Somberg R.L.... Felsburg P.J.	1994	IL2
45	Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase. (8202712)	Elder M.E.... Parslow T.G.	1994	ZAP70
46	ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency. (8202713)	Chan A.C.... Weiss A.	1994	ZAP70
47	Transfer of type 1 (insulin-dependent) diabetes mellitus associated autoimmunity to mice with severe combined immunodeficiency (SCID). (8335172)	Petersen J.S.... Dyrberg T.	1993	INS
48	Characterization of clonality of Epstein-Barr virus-induced human B lymphoproliferative disease in mice with severe combined immunodeficiency. (8380952)	Nakamine H.... Sanger W.G.	1993	BCL2
49	Control of human B cell tumor growth in severe combined immunodeficiency mice by monoclonal anti-B cell antibodies. (1326002)	Durandy A.... Fischer A.	1992	FCER2
50	Successful bone marrow transplantation and treatment of BCG infection in two patients with severe combined immunodeficiency. (1915499)	Heyderman R.S.... Strobel S.	1991	ADA

Genes related to combined immunodeficiency according to GeneCards:

(show top 50)    (show all 172)

id	Symbol	Description	Score	GeneCards Section Context
1	IL2RG	interleukin 2 receptor, gamma	11.1	Publications, Aliases & Descriptions, Summaries
2	DCLRE1C	DNA cross-link repair 1C	11.1	Publications, Aliases & Descriptions, Summaries
3	IL7R	interleukin 7 receptor	11.1	Summaries, Publications
4	CD3D	CD3d molecule, delta (CD3-TCR complex)	11.1	Publications, Summaries
5	ADA	adenosine deaminase	11.1	Publications, Orthologs, Summaries
6	RAG2	recombination activating gene 2	11.1	Summaries, Publications
7	NHEJ1	nonhomologous end-joining factor 1	11.1	Summaries
8	ZAP70	zeta-chain (TCR) associated protein kinase 70kDa	11.1	Publications, Summaries
9	CIITA	class II, major histocompatibility complex, transactivator	11.1	Publications, Summaries
10	IL2	interleukin 2	11.0	Publications
11	PTPRC	protein tyrosine phosphatase, receptor type, C	11.0	Publications
12	IL9	interleukin 9	11.0	Publications
13	RAG1	recombination activating gene 1	11.0	Publications
14	IL7	interleukin 7	11.0	Publications
15	CD3E	CD3e molecule, epsilon (CD3-TCR complex)	11.0	Publications
16	LMO2	LIM domain only 2 (rhombotin-like 1)	11.0	Publications
17	IL21	interleukin 21	11.0	Publications
18	IL2RB	interleukin 2 receptor, beta	11.0	Publications
19	IL15	interleukin 15	11.0	Publications
20	IL18R1	interleukin 18 receptor 1	11.0	Publications
21	IL4	interleukin 4	11.0	Publications
22	KITLG	KIT ligand	11.0	Publications
23	RFXAP	regulatory factor X-associated protein	11.0
24	RFXANK	regulatory factor X-associated ankyrin-containing protein	11.0	Publications
25	LIG4	ligase IV, DNA, ATP-dependent	11.0	Publications
26	RFX5	regulatory factor X, 5 (influences HLA class II expression)	11.0
27	CFP	complement factor properdin	11.0
28	TSLP	thymic stromal lymphopoietin	11.0
29	AHCY	adenosylhomocysteinase	11.0	Publications
30	PNP	purine nucleoside phosphorylase	11.0	Publications
31	STAT5B	signal transducer and activator of transcription 5B	11.0
32	STAT6	signal transducer and activator of transcription 6, interleukin-4 induced	11.0	Publications
33	TNFRSF8	tumor necrosis factor receptor superfamily, member 8	11.0
34	TYK2	tyrosine kinase 2	11.0
35	IL13	interleukin 13	11.0	Publications
36	LCK	lymphocyte-specific protein tyrosine kinase	11.0	Publications
37	IL4R	interleukin 4 receptor	11.0	Publications
38	DPP4	dipeptidyl-peptidase 4	11.0	Publications
39	ITGA4	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	11.0
40	IFNB1	interferon, beta 1, fibroblast	11.0
41	JAK1	Janus kinase 1	11.0	Publications
42	FLT3	fms-related tyrosine kinase 3	11.0	Publications
43	IL2RA	interleukin 2 receptor, alpha	11.0	Publications
44	IL3	interleukin 3 (colony-stimulating factor, multiple)	11.0	Publications
45	GRB2	growth factor receptor-bound protein 2	11.0
46	IL5	interleukin 5 (colony-stimulating factor, eosinophil)	11.0	Publications
47	PRKDC	protein kinase, DNA-activated, catalytic polypeptide	11.0	Publications
48	CSF1	colony stimulating factor 1 (macrophage)	11.0	Publications
49	CD40	CD40 molecule, TNF receptor superfamily member 5	11.0	Publications
50	AR	androgen receptor	11.0	Publications

Pathways related to combined immunodeficiency according to GeneDecks:

(show top 50)    (show all 194)

id	Pathway	Score	Top Affiliating Genes
1	Jak-STAT signaling pathway20	11.3	MYC, JAK1, IL10, IL13, IL15, IL2
2	Primary immunodeficiency20	11.1	RFX5, RFXANK, RFXAP, RAG2, CIITA, CD3D
3	RAR-Gamma-RXR-Alpha Degradation36	10.8	IL15, IL2, IL21, IL3, IL7, IL9
4	Regulation of eIF4 and p70S6K36	10.8	BAX, CD4, ITGA4, ITGAL, GRB2, IL13
5	Immune response_IL-22 signaling pathway41	10.7	MYC, BCL2, JAK1, CD28, CD4, IL2
6	IL-15 Signaling and its Primary Biological Effects in Different Immune Cell Types37	10.7	BCL2, CD3D, IL15, IL2, IL2RA, IL2RB
7	PGC1Alpha Pathway36	10.6	BCL2, BAX, CD4, IL13, IL15, IL1B
8	Measles20	10.6	JAK1, CD28, CD3D, CD3G, CD3E, IL13
9	Immune System38	10.6	CIITA, JAK1, CD34, CD40, IL1R1, IL2RG
10	Immune response IL-22 signaling pathway10	10.6	MYC, BCL2, JAK1, CD28, CD4, IL2
11	Cytokine Network36	10.5	IL10, IL13, IL15, IL1B, IL2, IL3
12	ICos-ICosL Pathway in T-Helper Cell36	10.5	ZAP70, LCK, CD28, CD3D, CD3G, CD4
13	NFAT Signaling and Lymphocyte Interactions36	10.5	BCL2, BAX, CD3D, CD3G, CD4, CD3E
14	Intestinal immune network for IgA production20	10.5	CD28, CD40LG, CD40, ITGA4, IL10, IL15
15	Akt Signaling36	10.5	CD28, CD4, ITGAL, FLT3, IL10, IL15
16	Endothelin-1 Signaling Pathway36	10.4	MYC, FLT3, GRB2, IL10, IL13, IL1B
17	T cell receptor signaling pathway20	10.4	ZAP70, LCK, CD28, CD3D, CD3G, CD4
18	IL-9 Signaling and its Primary Biological Effects in Different Immune Cell Types37	10.3	IL13, IL1B, IL2RG, IL4, IL4R, IL5
19	IL-6 Pathway36	10.3	BAX, GRB2, IL10, IL3, IL4, IL5
20	Lymphocyte Signaling3	10.2	KITLG, RAG1, BCL6, CIITA, ZAP70, LCK
21	JNK Pathway36	10.2	KITLG, KDR, BCL2, BAX, CD4, FLT3
22	Glucocorticoid Receptor Signaling36	10.1	BCL2, BAX, CD4, IL10, IL13, IL15
23	Th17 Differentiation37	10.1	JAK1, CD28, CD4, CD3E, IL17A, IL1B
24	all-trans-Retinoic Acid Signaling in Brain36	10.1	BCL2, BAX, IL10, IL13, IL15, IL1B
25	MIF Mediated Glucocorticoid Regulation36	10.1	BCL2, BAX, IL10, IL13, IL15, IL1B
26	PEDF Induced Signaling36	10.1	BCL2, BAX, IL10, IL13, IL15, IL1B
27	SOCS Pathway36	10.0	BCL2, BAX, JAK1, CD4, INS, IL10
28	MIF Regulation of Innate Immune Cells36	9.9	BCL2, BAX, IL10, IL13, IL15, IL1B
29	NFAT in Immune Response36	9.9	KITLG, KDR, ZAP70, LCK, CD28, CD3D
30	ERK Signaling36	9.9	KITLG, MYC, ZAP70, CD3D, CD3G, CD3E
31	Molecular Mechanisms of Cancer36	9.9	KITLG, MYC, KDR, BCL2, BAX, JAK1
32	Tuberculosis20	9.8	RFX5, RFXANK, RFXAP, BCL2, CIITA, BAX
33	JAK-STAT Pathway36	9.8	KITLG, MYC, KDR, BCL2, BAX, JAK1
34	STAT3 Pathway36	9.8	MYC, BCL2, BAX, CD28, CD4, IL10
35	Pancreatic Adenocarcinoma36	9.8	KITLG, KDR, BCL2, JAK1, MMP2, MMP7
36	TGF-Beta Pathway36	9.7	KITLG, KDR, BCL2, BAX, CD4, AREG
37	MAPK Family Pathway36	9.7	KITLG, KDR, BCL2, BAX, CD4, AREG
38	Cytokine-cytokine receptor interaction20	9.6	KITLG, VEGFA, KDR, CD27, CD40LG, CD40
39	Rheumatoid arthritis20	9.6	VEGFA, CD28, ITGAL, IL15, IL17A, IL1B
40	Rho Family GTPases36	9.6	KITLG, KDR, BCL2, BAX, ITGA4, ITGAL
41	Tec Kinases Signaling36	9.5	KITLG, BCL2, BAX, JAK1, CD28, CD3D
42	p53 Mediated Apoptosis36	9.5	KITLG, KDR, BCL2, BAX, AREG, IL2
43	Pathways in cancer20	9.5	VEGFA, MYC, BCL2, BAX, JAK1, MMP2
44	Telomerase Components in Cell Signaling36	9.5	KITLG, MYC, KDR, AREG, IL2, IL3
45	PAK Pathway36	9.4	KITLG, KDR, BCL2, BAX, AREG, IL10
46	Antioxidant Action of Vitamin-C36	9.3	KITLG, KDR, BCL2, BAX, CD28, CD4
47	Malaria20	9.3	SELP, CD40LG, CD40, ITGAL, IL10, IL1B
48	MAPK Signaling36	9.1	KITLG, MYC, KDR, BCL2, ITGA4, ITGAL
49	Hematopoietic cell lineage20	9.0	KITLG, CD3D, CD3G, CD4, CD34, CD3E
50	p38 Signaling36	8.9	KITLG, KDR, BCL2, ZAP70, LCK, BAX

Compounds related to combined immunodeficiency according to GeneDecks:

(show top 50)    (show all 439)

id	Compound	Score	Top Affiliating Genes
1	cyclophosphamide32 34 9 9	13.8	BCL6, ITGA4, ITGAL, FLT3LG, TRB@, LTF
2	sp 60012532 42	11.6	CD40, IL13, IL17A, CASP3, TP53
3	ivig32	10.6	IL18R1, IL3, CCR5, IFNB1, TG, CSF1
4	methylcellulose32	10.6	KITLG, CD34, FLT3LG, FLT3, IL15, IL3
5	dmso32	10.6	KITLG, SELP, RAG2, MMP7, CCR1, TNFRSF1A
6	endotoxin32	10.5	CIITA, CD40, ITGAL, IL18R1, IL1R1, IL2RB
7	hyaluronic acid32 18	11.4	MYC, MUC16, ITGAL, IL13, ENG, PNP
8	h2o232	10.4	RECQL4, KITLG, ZAP70, MUC16, LCK, JAK1
9	okt332	10.4	ZAP70, LCK, CD40LG, FCER2, IL10, IL15
10	polyinosinic-polycytidylic acid32	10.3	CIITA, CD40, IL10, IL15, IL1B, IL2
11	bromodeoxyuridine32	10.3	KITLG, PCNA, MYC, BCL6, CIITA, MMP14
12	pixy32132	10.2	KITLG, FLT3LG, FLT3, IL3, IL6, TIMP1
13	heparin32 9 18 9	13.2	KITLG, ZAP70, LCT, CFP, CD4, ITGA4
14	imatinib32 34 9 9	13.1	KITLG, VEGFA, MYC, KDR, BCL2, BCL6
15	proline32	10.0	VHL, CIITA, MUC7, LCK, JAK1, CD28
16	rapamycin32 42	11.0	KITLG, NBN, VHL, VEGFA, KDR, FMR1
17	bleomycin32 9 9	12.0	IL13, IL2RA, IL4, IL5, CCL2, IGF1
18	fmlp32	9.9	SELP, ITGA4, ITGAL, FCER2, IL13, IL1B
19	p00232	9.9	MMP14, MMP7, MLH1, MKI67, IL15, IL17A
20	progesterone32 42 9 18 9	13.9	PCNA, BCL2, MUC16, CD34, MMP14, MMP7
21	ribavirin32 34 9 9	12.9	CD40LG, MMP2, IL10, IL2, IL3, IL4
22	rituximab32 34 9 9	12.8	BCL2, BCL6, ZAP70, CD40LG, CD40, CD38
23	il 1032	9.7	CD40, IL10, IL13, IL15, IL1B, IL1R1
24	gm-csf32	9.6	KITLG, VEGFA, IL10, IL13, IL15, IL1B
25	simvastatin32 34 42 9 18 9	14.6	KITLG, SELP, VEGFA, KDR, CIITA, CD40
26	mip 1alpha32	9.6	IL10, IL13, IL1B, IL3, IL4, IL6
27	etanercept32 9 9	11.5	IL10, IL15, IL17A, IL18R1, IL1B, IL1R1
28	il-1232	9.5	CD40LG, IL10, IL13, IL15, IL1B, IL1R1
29	aspirin32 34 18	11.5	KITLG, PCNA, SELP, CD40LG, ITGAL, MMP2
30	herbimycin a32 42	10.4	KITLG, MYC, LCK, CD28, CD4, CD40LG
31	pdtc32	9.4	BCL2, CD40, MMP2, FCER2, IL1B, IL4
32	etoposide32 42 9 9	12.3	PCNA, MYC, BCL2, BAX, ITGAL, MMP2
33	rantes32	9.3	KITLG, SELP, CIITA, CD4, CD40LG, CD40
34	ly29400232	9.3	VHL, VEGFA, MMP14, MMP2, GRB2, IL10
35	tarc32	9.3	CD4, ITGA4, IL10, IL13, IL4, IL4R
36	cholesterol32 9 18 9	12.1	KITLG, SELP, CIITA, CD4, CD40, ITGAL
37	epinephrine32 9 18 9	12.1	KITLG, SELP, MMP2, AREG, INS, IL1RN
38	cysteine32	9.1	PCNA, SELP, RAG1, KDR, MUC7, LCK
39	ribonucleic acid32	9.0	KITLG, MYC, CIITA, CD40, MMP14, MMP2
40	n acetylcysteine32	8.9	PCNA, SELP, KDR, JAK1, CD40, MMP2
41	polysaccharide32	8.8	KITLG, SELP, KDR, CFP, CD4, CD40LG
42	tgf beta132	8.6	KITLG, KDR, CD38, MMP14, MMP2, MKI67
43	glutamate32	8.5	PCNA, LIG4, KDR, LCK, CD4, CD40
44	thymidine32 18	9.5	KITLG, PCNA, MYC, KDR, CIITA, ZAP70
45	creatinine32	8.3	KITLG, PCNA, SELP, MUC16, CD40LG, CD40
46	alanine32	8.0	KITLG, PCNA, MYC, RAG1, LIG4, CIITA
47	testosterone32 9 18 9	10.8	KITLG, PCNA, MUC16, CD40LG, MMP2, FMR1
48	phosphatidylinositol32	7.7	KITLG, NBN, VHL, MYC, LIG4, KDR
49	vegf32	7.1	KITLG, PCNA, SELP, VHL, MYC, KDR
50	tyrosine32	6.7	KITLG, SELP, VHL, VEGFA, LMO2, MYC

Cellular components related to combined immunodeficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	nonhomologous end joining complex	GO:070419	10.5	LIG4, XRCC4, PRKDC, NHEJ1
2	immunological synapse	GO:001772	10.4	CORO1A, ICAM1, ITGAL, CD3E, LCK, ZAP70
3	T cell receptor complex	GO:042101	10.2	CD247, CD3E, CD4, CD3G, CD3D, ZAP70
4	external side of plasma membrane	GO:009897	9.9	IL13, IL17A, IL2RB, IL2RG, IL4, ENG
5	alpha-beta T cell receptor complex	GO:042105	9.9	CD247, CD3E, CD3G, CD3D
6	cell surface	GO:009986	9.6	PLAU, PLAUR, ABCB1, TGFB1, DPP4, CXCR4
7	integral to plasma membrane	GO:005887	9.2	GHR, ICAM1, CCR3, CCR1, CCR5, IL9R
8	extracellular region	GO:005576	8.6	FCER2, IFNB1, IFNG, GHR, TNFRSF11B, TNFRSF1A
9	extracellular space	GO:005615	8.3	KITLG, IL2, IL21, IL3, IL4, IL5
10	plasma membrane	GO:005886	7.9	HSPB1, CASP3, GHR, TRAC, TPO, TNFRSF1A

Biological processes related to combined immunodeficiency according to GeneDecks:

(show top 50)    (show all 76)

id	Name	GO ID	Score	Top Affiliating Genes
1	T cell differentiation	GO:030217	11.0	NHEJ1, LCK, PTPRC, IL2, CD4, CD3D
2	positive regulation of isotype switching to IgG isotypes	GO:048304	11.0	IL2, CD40, IFNG, PTPRC, IL4
3	B cell differentiation	GO:030183	10.9	NHEJ1, DCLRE1C, TSHR, PTPRC, FLT3, RAG2
4	pro-B cell differentiation	GO:002328	10.8	FLT3, PRKDC, XRCC4, LIG4
5	embryonic hemopoiesis	GO:035162	10.8	LMO2, IL3, KITLG, FLT3LG, KDR, TPO
6	positive regulation of T cell proliferation	GO:042102	10.8	IL6, IFNG, PTPRC, CORO1A, PNP, IL4
7	positive regulation of MHC class II biosynthetic process	GO:045348	10.7	IL4, CIITA, IL10, CD40LG, IFNG
8	T cell differentiation in thymus	GO:033077	10.7	LIG4, BCL2, RAG1, XRCC4, TP53, STAT5B
9	positive regulation of calcium-mediated signaling	GO:050850	10.7	CD4, ZAP70, CD3E, ITGAL, ADA
10	B cell proliferation	GO:042100	10.7	CD40LG, IL10, IFNB1, PTPRC, CD40, BCL2
11	positive regulation of osteoclast differentiation	GO:045672	10.6	TNFSF11, IL17A, CCR1, IFNG, CSF1
12	leukocyte cell-cell adhesion	GO:007159	10.6	PTPRC, ICAM1, ITGAL, ITGA4, CD40LG, SELP
13	positive regulation of activated T cell proliferation	GO:042104	10.6	IL2, IL4, IGFBP2, STAT5B, IGF1
14	positive regulation of tyrosine phosphorylation of Stat5 protein	GO:042523	10.6	IL2, IL3, IL4, IGF1, GHR, CSF2
15	response to ethanol	GO:045471	10.6	TNFRSF1A, CCL2, IL4, IL13, LCT, BCL2
16	T cell receptor signaling pathway	GO:050852	10.6	CD3D, LCK, PTPRC, ZAP70, CD3G, CD4
17	positive regulation of interleukin-2 biosynthetic process	GO:045086	10.6	CD4, CD3E, IL1B, STAT5B, CD28
18	T cell costimulation	GO:031295	10.6	CD247, CD4, DPP4, CD3G, CD28, LCK
19	B cell lineage commitment	GO:002326	10.5	PRKDC, TP53, BCL2, RAG2
20	positive regulation of B cell proliferation	GO:030890	10.5	ADA, PTPRC, IL7, IL5, IL4, IL2
21	humoral immune response	GO:006959	10.4	IFNB1, IFNG, LTF, CCL2, IL7, BCL2
22	T cell homeostasis	GO:043029	10.4	STAT5B, TGFB1, BCL2, CASP3, CORO1A
23	homeostasis of number of cells within a tissue	GO:048873	10.4	BCL2, BAX, CORO1A, CD7, CSF1
24	cytokine-mediated signaling pathway	GO:019221	10.4	IFNB1, ICAM1, TNFRSF1A, TNFSF11, TYK2, CSF3
25	cell-cell signaling	GO:007267	10.3	IL3, TSHR, PTHLH, CCR1, CCR5, IL7
26	T cell activation	GO:042110	10.3	ADA, CD7, DPP4, ZAP70, CD3E, CD3G
27	defense response to Gram-negative bacterium	GO:050829	10.2	NOS2, IL6, MMP7, CD4, SELP
28	response to gamma radiation	GO:010332	10.1	BCL2, LIG4, BAX, IL1B, CCL2, MYC
29	regulation of immune response	GO:050776	10.1	ITGA4, CD34, CD40LG, CD3G, ICAM1, IL4
30	positive regulation of MAP kinase activity	GO:043406	10.1	CD40, FLT3, TNFSF11, TGFB1, VEGFA, KITLG
31	organ regeneration	GO:031100	10.1	CXCL12, AFP, TGFB1, NOTCH1, PPARG, CCL2
32	positive regulation of MAPK cascade	GO:043410	10.1	KDR, FLT3, IL6, IGF1, AR, INS
33	virus-host interaction	GO:019048	10.0	LCK, KDR, TNFRSF1A, TOP1, CXCR4, IL2RG
34	response to hypoxia	GO:001666	10.0	VEGFA, TNFRSF1A, ADA, CXCR4, CXCL12, NOS2
35	cell surface receptor signaling pathway	GO:007166	10.0	CD3E, CD19, CD4, CD28, CD27, CD3D
36	positive regulation of peptidyl-tyrosine phosphorylation	GO:050731	10.0	GHR, IL5, IGF1, TP53, IL6, IL3
37	positive regulation of NF-kappaB transcription factor activity	GO:051092	9.9	TNFSF11, CD40, AR, IL1B, TNFRSF8, INS
38	inflammatory response	GO:006954	9.9	TNFRSF1A, IL10, CD40, CCR5, CCR1, CCR3
39	aging	GO:007568	9.8	IGFBP2, ADA, TIMP1, IL1B, IL15, CCL2
40	cell adhesion	GO:007155	9.8	SELP, ADA, MUC16, CD4, ENG, CCL2
41	cell proliferation	GO:008283	9.7	KITLG, PCNA, NBN, LIG4, CD34, CD5
42	platelet activation	GO:030168	9.6	THPO, TIMP1, IL6, IGF1, TGFB1, CD40
43	positive regulation of transcription from RNA polymerase II promoter	GO:045944	9.5	TGFB1, NOTCH1, PPARG, TNFRSF1A, TP53, IFNG
44	immune response	GO:006955	9.4	RAG1, IL2, IL21, IL2RA, IL2RG, IL3
45	signal transduction	GO:007165	9.4	AR, FLT3LG, ITGAL, CD38, IL2RB, CD4
46	positive regulation of cell proliferation	GO:008284	8.9	IL15, INS, AR, FLT3, FLT3LG, KDR
47	negative regulation of apoptotic process	GO:043066	8.9	BCL2, KDR, MYC, CD38, TP53, PLAUR
48	positive regulation of transcription, DNA-dependent	GO:045893	8.7	TGFB1, NOTCH1, IL5, VHL, PPARG, TP53
49	blood coagulation	GO:007596	8.7	PLAU, PLAUR, NOS2, ABL1, TIMP1, THPO
50	response to drug	GO:042493	8.7	IGFBP2, IFNG, ICAM1, TNFRSF11B, PPARG, PNP

Molecular functions related to combined immunodeficiency according to GeneDecks:

(show all 8)

id	Name	GO ID	Score	Top Affiliating Genes
1	interleukin-2 receptor activity	GO:004911	10.3	IL2RG, IL2RB, IL2RA
2	receptor activity	GO:004872	10.2	PLAUR, TNFRSF9, TNFRSF11B, ICAM1, IL18R1, CD7
3	transmembrane signaling receptor activity	GO:004888	10.0	TNFRSF8, ICAM1, ENG, IL1R1, CD5, CD247
4	protease binding	GO:002020	9.9	DPP4, TNFRSF1A, TP53, IL1R1, INSL3, INS
5	cytokine activity	GO:005125	9.8	KITLG, VEGFA, CD40LG, FLT3LG, IL10, IL13
6	growth factor activity	GO:008083	9.5	IL10, IL1B, IL2, IL3, IL4, IL5
7	enzyme binding	GO:019899	9.5	CSF3, PRKDC, TGFB1, NOTCH1, PLAUR, PPARG
8	protein binding	GO:005515	6.1	NOTCH1, CSF2, NHEJ1, ADA, HGS, EPCAM