Combined Immunodeficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CMB007 MIFTS: 58	Combined Immunodeficiency Categories: Blood diseases, Immune diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Combined Immunodeficiency

MalaCards integrated aliases for Combined Immunodeficiency:

Name: Combined Immunodeficiency ¹¹ ¹¹ ²⁸ ⁵ ¹⁴

Combined T Cell and B Cell Immunodeficiency ¹¹ ¹⁴

Combined T-Cell and B-Cell Immunodeficiency ³³

Syndrome with Combined Immunodeficiency ⁵⁸

Combined T and B Cell Immunodeficiency ³³

Congenital Combined Immunodeficiency ¹¹

Combined Immunodeficiency Syndrome ³³

Lymphopenic Agammaglobulinaemia ³³

Combined Immunity Deficiency ³³

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Immune diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³¹

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

Certain disorders involving the immune mechanism

Combined immunodeficiencies

Combined immunodeficiency, unspecified

ICD11: ³³

Diseases of the immune system

Primary immunodeficiencies

Primary immunodeficiencies due to disorders of adaptive immunity

Combined immunodeficiencies

Combined immunodeficiencies, unspecified

Other specified combined immunodeficiencies

Orphanet: ⁵⁸

Rare immunological diseases

External Ids:

Disease Ontology ¹¹ DOID:0111962 DOID:628

ICD9CM ³⁴ 279.2

NCIt ⁴⁹ C27871

SNOMED-CT ⁶⁸ 442459007

ICD10 ³¹ D81 D81.9

Orphanet ⁵⁸ ORPHA331217

ICD11 ³³ 1616506198 1616506198/other 1616506198/unspecified

UMLS ⁷¹ C2711630

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Summaries for Combined Immunodeficiency

Disease Ontology ¹¹ Combined immunodeficiency: A primary immunodeficiency disease that involves multiple components of the immune system.

Combined t cell and b cell immunodeficiency: A primary immunodeficiency disease characterized by impaired T cell-mediated immunity and impaired B cell mediated humoral immunity.

MalaCards based summary: Combined Immunodeficiency, also known as combined t cell and b cell immunodeficiency, 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 Combined Immunodeficiency is ZAP70 (Zeta Chain Of T Cell Receptor Associated Protein Kinase 70), and among its related pathways/superpathways are ERK Signaling and Innate Immune System. The drugs Immunoglobulins, Intravenous and Immunoglobulin G have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and t cells, and related phenotypes are Reduced mammosphere formation and immune system

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Related Diseases for Combined Immunodeficiency

Diseases related to Combined Immunodeficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 720)

#	Related Disease	Score	Top Affiliating Genes
1	severe combined immunodeficiency	34.0	ZAP70 STAT1 RAG2 RAG1 RAC2 NHEJ1
2	severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative	33.9	RAG2 RAG1 JAK3 ADA
3	severe combined immunodeficiency with sensitivity to ionizing radiation	33.9	ZAP70 RAG2 RAG1 NHEJ1 JAK3 IL2RG
4	severe combined immunodeficiency, x-linked	33.9	JAK3 IL7R IL2RG ADA
5	bare lymphocyte syndrome, type ii	33.7	ZAP70 RAG2 RAG1 NHEJ1 JAK3 IL7R
6	adenosine deaminase deficiency	33.7	RAG2 RAG1 JAK3 IL2RG CD3D ADA
7	omenn syndrome	33.7	ZAP70 STAT1 RAG2 RAG1 NHEJ1 JAK3
8	reticular dysgenesis	33.5	RAG1 NHEJ1 JAK3 IL2RG DCLRE1C ADA
9	immunodeficiency 19	33.3	ZAP70 CD3D ADA
10	immunodeficiency 16	33.2	ICOSLG CD27 CARMIL2
11	immunodeficiency 11	32.9	MALT1 CARMIL2
12	immunodeficiency 17	32.9	ZAP70 CD3D
13	immunodeficiency 55	32.9	IL2RG ADA
14	immune deficiency disease	32.9	ZAP70 TFRC STAT1 RAG2 RAG1 RAC2
15	lig4 syndrome	32.7	RAG2 RAG1 NHEJ1 DCLRE1C
16	purine nucleoside phosphorylase deficiency	32.6	ZAP70 RAG2 RAG1 NHEJ1 JAK3 IL2RG
17	cd3zeta deficiency	32.3	RAG1 CD3D ARPC1B
18	immunodeficiency 41 with lymphoproliferation and autoimmunity	32.3	STAT1 IL7R IL2RG
19	recombinase activating gene 1 deficiency	32.3	RAG2 RAG1
20	janus kinase-3 deficiency	32.3	RAG2 JAK3
21	immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia	32.2	CARMIL2 ARPC1B
22	lymphopenia	32.1	RAG1 RAC2 IL7R IL2RG ADA
23	combined t and b cell immunodeficiency	31.6	ZAP70 TFRC STAT1 RAC2 MALT1 ICOSLG
24	agammaglobulinemia	31.6	RAG1 IL2RG ICOSLG
25	t cell deficiency	31.6	ZAP70 RAG2 RAG1 IL7R IL2RG ICOSLG
26	common variable immunodeficiency	31.5	ZAP70 RAG2 RAG1 RAC2 JAK3 ICOSLG
27	leukemia, acute lymphoblastic	31.4	ZAP70 RAG1 JAK3 IL7R ICOSLG ADA
28	t-cell acute lymphoblastic leukemia	31.2	ZAP70 TFRC STAT1 RAG2 RAG1 ICOSLG
29	chickenpox	31.1	STAT1 CD27 ADA
30	anemia, autoimmune hemolytic	31.0	ZAP70 RAG1 ICOSLG CD27
31	b cell deficiency	31.0	STAT1 RAG2 RAG1 ICOSLG CD27
32	immunodeficiency with hyper-igm, type 1	30.9	RAG2 RAG1 ICOSLG CD27
33	leukemia, chronic lymphocytic	30.8	ZAP70 TFRC STAT1 ICOSLG CD27 ADA
34	myeloma, multiple	30.8	TFRC STAT1 IL7R ICOSLG CD27
35	chronic granulomatous disease	30.8	STAT1 RAG1 RAC2 JAK3 IL2RG ADA
36	sarcoidosis 1	30.7	STAT1 ICOSLG CD27 ADA
37	cd40 ligand deficiency	30.7	ZAP70 STAT1 IL2RG ICOSLG DCLRE1C CD27
38	chronic mucocutaneous candidiasis	30.6	STAT1 MALT1 ICOSLG
39	immunoglobulin alpha deficiency	30.6	RAG1 ICOSLG CD27
40	lymphoma, non-hodgkin, familial	30.5	TFRC RAG1 MALT1 ICOSLG CD27
41	hyper ige syndrome	30.5	STAT1 JAK3 ICOSLG
42	skin disease	30.5	ZAP70 STAT1 JAK3 IL7R ICOSLG
43	systemic lupus erythematosus	30.4	ZAP70 TFRC STAT1 RAG2 RAG1 ICOSLG
44	human immunodeficiency virus infectious disease	30.4	STAT1 IL7R IL2RG ICOSLG ADA
45	lymphoma, mucosa-associated lymphoid type	30.2	ZAP70 MALT1 ICOSLG
46	immunodeficiency 104	11.7
47	short-limb skeletal dysplasia with severe combined immunodeficiency	11.7
48	severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency	11.7
49	combined cellular and humoral immune defects with granulomas	11.7
50	severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation	11.6

Graphical network of the top 20 diseases related to Combined Immunodeficiency:

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Symptoms & Phenotypes for Combined Immunodeficiency

GenomeRNAi Phenotypes related to Combined Immunodeficiency according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Reduced mammosphere formation	GR00396-S	9.23	BCL11B CD27 CD3D DCLRE1C JAK3 STAT1

MGI Mouse Phenotypes related to Combined Immunodeficiency:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	immune system	MP:0005387	10.3	ADA ARPC1B BCL11B CARMIL2 CD27 CD3D
2	cellular	MP:0005384	10.21	ADA BCL11B CD27 DCLRE1C IL2RG IL7R
3	endocrine/exocrine gland	MP:0005379	10.18	ADA BCL11B CARMIL2 DCLRE1C IL2RG IL7R
4	normal	MP:0002873	10.03	ADA IL2RG IL7R RAG1 RAG2 STAT1
5	neoplasm	MP:0002006	10	BCL11B IL2RG IL7R NHEJ1 RAG1 RAG2
6	hematopoietic system	MP:0005397	9.93	ADA ARPC1B BCL11B CARMIL2 CD27 CD3D
7	skeleton	MP:0005390	9.81	ADA ARPC1B BCL11B IL2RG RAG1 RAG2
8	respiratory system	MP:0005388	9.8	ADA IL2RG RAG1 RAG2 STAT1 TFRC
9	integument	MP:0010771	9.28	ARPC1B BCL11B CARMIL2 MALT1 RAG1 RAG2

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Drugs & Therapeutics for Combined Immunodeficiency

Drugs for Combined Immunodeficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 77)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Immunoglobulins, Intravenous

Phase 3

Immunoglobulin G

Phase 3

gamma-Globulins

Phase 3

Rho(D) Immune Globulin

Phase 3

Mycophenolic acid

Approved, Investigational

Phase 2

24280-93-1

446541

Levoleucovorin

Approved, Experimental, Investigational

Phase 2

68538-85-2, 58-05-9, 73951-54-9

149436 6006

Methotrexate

Approved

Phase 2

1959-05-2, 59-05-2

4112 126941

Tacrolimus

Approved, Investigational

Phase 2

104987-11-3

6473866 445643

Mechlorethamine

Approved, Investigational

Phase 2

51-75-2

4033

Melphalan

Approved

Phase 2

148-82-3

4053 460612

Thiotepa

Approved, Investigational

Phase 1, Phase 2

52-24-4

5453

Busulfan

Approved, Investigational

Phase 2

55-98-1

2478

Mecasermin

Approved, Investigational

Phase 1, Phase 2

68562-41-4

Alemtuzumab

Approved, Investigational

Phase 1, Phase 2

216503-57-0

Lenograstim

Approved, Investigational

Phase 2

135968-09-1

Fludarabine

Approved

Phase 1, Phase 2

75607-67-9, 21679-14-1

30751 657237

Plerixafor

Approved

Phase 2

110078-46-1

65015

Folic acid

Approved, Nutraceutical, Vet_approved

Phase 2

59-30-3

6037

D-Phenylalanine

Approved, Experimental, Investigational, Nutraceutical

Phase 2

63-91-2, 673-06-3

6140 71567

Calcineurin Inhibitors

Phase 2

Antitubercular Agents

Phase 2

Dermatologic Agents

Phase 2

Folic Acid Antagonists

Phase 2

Folate

Phase 2

Vitamin B9

Phase 2

Vitamin B Complex

Phase 2

Antilymphocyte Serum

Phase 1, Phase 2

Thymoglobulin

Phase 1, Phase 2

Alkylating Agents

Phase 1, Phase 2

Antineoplastic Agents, Alkylating

Phase 1, Phase 2

Cyclosporins

Phase 2

Insulin, Globin Zinc

Phase 1, Phase 2

Insulin

Phase 1, Phase 2

Hormones

Phase 1, Phase 2

Mitogens

Phase 1, Phase 2

Antineoplastic Agents, Immunological

Phase 1, Phase 2

Antiviral Agents

Phase 2

Anti-Retroviral Agents

Phase 2

Anti-HIV Agents

Phase 2

Immunoglobulins

Phase 1, Phase 2

Antibodies

Phase 1, Phase 2

Antibodies, Monoclonal

Phase 1, Phase 2

Adjuvants, Immunologic

Phase 2

Zidovudine

Approved

Phase 1

30516-87-1

35370

Reverse Transcriptase Inhibitors

Phase 1

Elapegademase

Approved

1709806-75-6

Benzocaine

Approved, Investigational

1994-09-7, 94-09-7

2337

Tannic acid

Approved

1401-55-4

16129878 16129778

Cyclophosphamide

Approved, Investigational

50-18-0, 6055-19-2

2907

Vidarabine

Approved, Investigational

24356-66-9

21704

Interventional clinical trials:

(show top 50) (show all 73)

#	Name	Status	NCT ID	Phase	Drugs
1	Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Selected Non-Malignant Diseases	Unknown status	NCT01019876	Phase 2, Phase 3	Fludarabine;Cyclophosphamide;Cyclophosphamide 40;Cyclophosphamide 30
2	IGIV-C 10% Rapid Infusion Trial in Primary Immune Deficient Patients	Completed	NCT00220766	Phase 3	Immune Globulin Intravenous [Human], 10% Caprylate/Chromatography Purified;Dextrose, 5% in Water
3	A Study of EZN-2279 (Polyethylene Glycol Recombinant Adenosine Deaminase [PEG-rADA]) Administered as a Weekly Intramuscular Injection in Patients With Adenosine Deaminase (ADA)-Deficient Combined Immunodeficiency	Completed	NCT01420627	Phase 3
4	A Single Arm, Open Label Clinical Study to Enable Process Validation of Commercial Grade Ex Vivo Hematopoietic Stem Cell Gene Therapy (OTL-101) in Subjects With Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency (ADA-SCID)	Withdrawn	NCT04140539	Phase 2, Phase 3
5	Lentiviral Gene Transfer for Treatment of Children Older Than 2 Years of Age With X-Linked Severe Combined Immunodeficiency	Unknown status	NCT03315078	Phase 1, Phase 2	Palifermin;Busulfan
6	Gene Transfer for X-linked Severe Combined Immunodeficiency (SCID-X1) Using a Self-inactivating Lentiviral Vector （TYF-IL-2Rg）	Unknown status	NCT03217617	Phase 1, Phase 2
7	Protocol No. 2 of Gene Therapy for X-linked Severe Combined Immunodeficiency (SCID-X1) Using a Self Retroviral Vector - SCID2	Completed	NCT01410019	Phase 1, Phase 2
8	Efficacy and Safety of Cryopreserved Formulation of Autologous CD34+ Hematopoietic Stem Cells Transduced Ex Vivo With Elongation Factor 1 Alpha Shortened (EFS) Lentiviral Vector Encoding for Human ADA Gene in Subjects With Severe Combined Immunodeficiency Due to ADA Deficiency	Completed	NCT02999984	Phase 1, Phase 2	busulfan;PEG-ADA ERT
9	MND-ADA Transduction of CD34+ Cells From the Bone Marrow Of Children With Adenosine Deaminase (ADA)-Deficient Severe Combined Immunodeficiency (SCID): Effect of Discontinuation of PEG-ADA and Marrow Cytoreduction With Busulfan	Completed	NCT00794508	Phase 2
10	Treatment of ADA-SCID by Gene Therapy on Somatic Cells	Completed	NCT00599781	Phase 1, Phase 2
11	Cord Blood Stem Cell Transplantation Study (COBLT)	Completed	NCT00000603	Phase 2
12	Phase I/II Trial of De-Escalation of Busulfan With Fludarabine and Antithymocyte Globulin as Preparative Therapy for Hematopoietic Stem Cell Transplant for the Treatment of Severe Congenital T-Cell Immunodeficiency	Completed	NCT00228852	Phase 1, Phase 2	Busulfan, Fludarabine and ATG
13	A Phase II Trial of Reduced Intensity Allogeneic Stem Cell Transplantation With Fludarabine, Melphalan and Low Dose Total Body Irradiation	Completed	NCT01529827	Phase 2	fludarabine phosphate;melphalan;tacrolimus;mycophenolate mofetil;methotrexate
14	Phase I Gene Therapy Protocol for Adenosine Deaminase Deficiency	Completed	NCT01279720	Phase 1, Phase 2
15	Phase I/II, Historical Controlled, Open-label, Non-randomised, Single-centre Trial to Assess the Safety and Efficacy of EF1αS-ADA Lentiviral Vector Mediated Gene Modification of Autologous CD34+ Cells From ADA-deficient Individuals	Completed	NCT01380990	Phase 1, Phase 2	Busulfan;Peg-Ada
16	Autologous Transplantation of Bone Marrow CD34+ Stem/Progenitor Cells After Addition of a Normal Human ADA Complementary DNA (cDNA) by the EFS-ADA Lentiviral Vector for Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency (ADA-SCID)	Completed	NCT01852071	Phase 1, Phase 2	busulfan;PEG-ADA ERT
17	Phase I/II Trial of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan Conditioning	Recruiting	NCT03311503	Phase 1, Phase 2
18	A Pilot Feasibility Study of Gene Transfer for X-Linked Severe Combined Immunodeficiency in Newly Diagnosed Infants Using a Self-Inactivating Lentiviral Vector to Transduce Autologous CD34+ Hematopoietic Cells	Recruiting	NCT01512888	Phase 1, Phase 2	Busulfan
19	A Phase I/II Study Evaluating the Safety and the Efficacy of Human T Lymphoid Progenitor (HTLP) Injection to Accelerate Immune Reconstitution After Partially HLA Compatible Allogeneic Hematopoietic Stem Cell Transplantation in SCID Patients	Recruiting	NCT03879876	Phase 1, Phase 2	Human T Lymphoid Progenitor (HTLP) injection
20	Haplocompatible Transplant Using TCRα/β Depletion Followed by CD45RA-Depleted Donor Lymphocyte Infusions for Severe Combined Immunodeficiency (SCID)	Recruiting	NCT03597594	Phase 1, Phase 2	Anti-thymocyte globulin (rabbit);Busulfan;Fludarabine;Thiotepa
21	A Phase I/II Feasibility Study of Gene Transfer for Artemis-Deficient Severe Combined Immunodeficiency (ART-SCID) Using a Self-Inactivating Lentiviral Vector (AProArt) to Transduce Autologous CD34 Hematopoietic Cells	Recruiting	NCT03538899	Phase 1, Phase 2	AProArt;Busulfan
22	A Study of Hematopoietic Stem Cell Transplantation (HSCT) in Immune Function Disorders Using a Reduced Intensity Preparatory Regime	Recruiting	NCT01821781	Phase 2	Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
23	A Phase 1/2 Study to Evaluate the Safety, Tolerability, and Efficacy of JSP191 for Hematopoietic Cell Transplantation Conditioning to Achieve Engraftment and Immune Reconstitution in Subjects With SCID	Recruiting	NCT02963064	Phase 1, Phase 2
24	A Randomized Trial of Low Versus Moderate Exposure Busulfan for Infants With Severe Combined Immunodeficiency (SCID) Receiving TCRαβ+/CD19+ Depleted Transplantation: A Phase II Study by the Primary Immune Deficiency Treatment Consortium (PIDTC) and Pediatric Blood and Marrow Transplant Consortium (PBMTC)	Recruiting	NCT03619551	Phase 2	Busulfan
25	Efficacy and Safety of a Cryopreserved Formulation of Autologous CD34+ Haematopoietic Stem Cells Transduced ex Vivo With Elongation Factor 1α Short Form (EFS) Lentiviral Vector Encoding for Human ADA Gene in Subjects With Severe Combined Immunodeficiency (SCID) Due to Adenosine Deaminase Deficiency	Active, not recruiting	NCT03765632	Phase 1, Phase 2	Busulfan;Peg-Ada
26	PEDS024, Phase I/II Feasibility Study of Busulfan Fludarabine and Thiotepa Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation (HSCT) for Children With Non-Malignant Disorders	Active, not recruiting	NCT03513328	Phase 1, Phase 2	Thiotepa--single daily dose;Thiotepa--escalated dose
27	Multi-site Phase I/II Trial Evaluating the Treatment of SCID-X1 Patients With Retrovirus-mediated Gene Transfer	Active, not recruiting	NCT01129544	Phase 1, Phase 2
28	Bilateral Orthotopic Lung Transplant in Tandem With CD3+ and CD19+ Cell Depleted Bone Marrow Transplant From Partially HLA-Matched Cadaveric Donors	Enrolling by invitation	NCT01852370	Phase 1, Phase 2
29	Matched Related and Unrelated Donor Stem Cell Transplantation for Severe Combined Immune Deficiency (SCID): Busulfan-based Conditioning With h-ATG, Radiation, and Sirolimus	Enrolling by invitation	NCT04370795	Phase 1, Phase 2	Sirolimus;Busulfan;Horse -Anti-thymocyte;G-CSF
30	A Phase 1/2 Open Label Non Randomized Study, Multicentric, Single Arm Evaluating the Safety and Efficacy of Gene Therapy of the Severe Combined Immunodeficiency (SCID) Caused by Mutations in the Human DCLRE1C Gene (Artemis) by Transplantation of a Single Dose of Autologous CD34+ Cells Transduced ex Vivo With the G2ARTE Lentiviral Vector Expressing the DCLRE1C cDNA	Not yet recruiting	NCT05071222	Phase 1, Phase 2
31	Efficacy and Safety of Cryopreserved Autologous Mobilized Peripheral Blood CD34+ Hematopoietic Stem and Progenitor Cells Transduced Ex Vivo With the EFS-ADA Lentiviral Vector in Patients With Severe Combined Immune Deficiency Due To Adenosine Deaminase Deficiency	Not yet recruiting	NCT05432310	Phase 1, Phase 2
32	Lentiviral Gene Transfer for Treatment of Children Older Than 2 Years of Age With X-Linked Severe Combined Immunodeficiency	Suspended	NCT01306019	Phase 1, Phase 2	Palifermin;Busulfan
33	Treatment for Growth Failure in Patients With X-Linked Severe Combined Immunodeficiency (XSCID): A Phase 2 Study Assessing Safety and Clinical Response to Treatment With Insulin-like Growth Factor-1 (IGF-1)	Terminated	NCT00490100	Phase 1, Phase 2	Increlex
34	Phase I/II Trial of Hematopoietic Stem Cell Transplant (HSCT) for Children With Severe Combined Immune Deficiency (SCID) and Without an HLA-Matched Sibling Donor	Terminated	NCT02127892	Phase 1, Phase 2
35	CD45 and Alemtuzumab Monoclonal Antibody Conditioning Regimen For Allogeneic Donor Stem Cell Transplantation Of Patients With Severe Combined Immunodeficiency Disease (SCID) And Other Primary Immunodeficiency Disorders	Terminated	NCT00579137	Phase 1, Phase 2	Fludarabine
36	Hematopoietic Stem Cell Transplantation for Children With Severe Combined Immunodeficiency Disease Utilizing Alemtuzumab and Mobilization With Plerixafor & Filgrastim	Terminated	NCT01182675	Phase 2	Transplant Conditioning with Mobilization Only;Transplant Conditioning with Mobilization and Alemtuzumab
37	Hematopoietic Stem Cells Transplantation in Children With Combined Immunodeficiency (CID): Selective Depletion of Naive Cells From the Graft	Terminated	NCT02737384	Phase 2
38	Sirolimus in Prevention of aGVHD in Maternally Engrafted (TME) Severe Combined Immunodeficiency (SCID) Infants Receiving Unconditioned Hematopoietic Stem Cell Transplant (HSCT)	Withdrawn	NCT02177760	Phase 2	Sirolimus
39	Induction of Mixed Hematopoietic Chimerism in Patients With Severe Combined Immunodeficiency Disorders Using Allogeneic Bone Marrow and Post-Transplant Immunosuppression With Cyclosporine and Mycophenolate Mofetil	Completed	NCT00008450	Phase 1	Cyclosporine;Mycophenolate Mofetil
40	Ex Vivo Retroviral Gene Transfer For Treatment of X-Linked Severe Combined Immunodeficiency (XSCID)	Completed	NCT00028236	Phase 1	Gene-Transduced Autologous CD34+ Stem Cells
41	Transplantation of Highly Purified Haploidentical CD133 Hematopoietic Cells in Children With Severe Combined Immunodeficiency Syndrome	Completed	NCT00152100	Phase 1	Filgrastim, Alemtuzumab
42	Treatment of SCID Due to ADA Deficiency With Autologous Cord Blood or Bone Marrow CD34+ Cells Transduced With a Human ADA Gene	Completed	NCT00018018	Phase 1	CD34+ cells transduced with ADA retrovir
43	Phase I/II Study of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan	Recruiting	NCT03601286	Phase 1	Lentiviral vector transduced CD34+ cells
44	Safety and Early Efficacy Study of TBX-1400 in Patients With Severe Combined Immunodeficiency	Not yet recruiting	NCT02860559	Phase 1
45	Gene Therapy for SCID-X1 Using a Self-inactivating (SIN) Gammaretroviral Vector	Unknown status	NCT01175239
46	Gene Transfer for Adenosine Deaminase-severe Combined Immunodeficiency (ADA-SCID) Using an Improved Self-inactivating Lentiviral Vector (TYF-ADA)	Unknown status	NCT03645460
47	Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China	Unknown status	NCT02231983
48	Newborn Screening for SCID in a High-Risk Population	Completed	NCT00845416
49	Study Through Imaging of Mediastinal and Abdominopelvic Secondary Lymphoid Organs (Lymph Nodes) in Patients With Severe Combined Immunodeficiencies (SCID) Who Have Recieved Bone Narrow Allograft	Completed	NCT04246840
50	Evaluation of the Clinical Utility and Cost Effectiveness Ratio of Generalized Neonatal Screening for Severe Combined Immunodeficiencies (SCID) by Quantification of TRECs on Guthrie Cards	Completed	NCT02244450

Search NIH Clinical Center for Combined Immunodeficiency

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Genetic Tests for Combined Immunodeficiency

Genetic tests related to Combined Immunodeficiency:

#	Genetic test	Affiliating Genes
1	Combined Immunodeficiency ²⁸

Sources

Anatomical Context for Combined Immunodeficiency

Organs/tissues related to Combined Immunodeficiency:

MalaCards : Bone Marrow, Bone, T Cells, B Cells, Lung, Myeloid, Liver

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Publications for Combined Immunodeficiency

Articles related to Combined Immunodeficiency:

(show top 50) (show all 6211)

#	Title	Authors	PMID	Year
1	Loss of human ICOSL results in combined immunodeficiency. ⁶² ⁵	Roussel L...Vinh DC	30498080	2018
2	Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B. ⁶² ⁵	Punwani D...Puck JM	27959755	2016
3	Newborn tandem mass spectroscopy screening for adenosine deaminase deficiency. ⁶²	Hartog N...Secord E	35914665	2022
4	JAK: Not Just Another Kinase. ⁶²	Agashe RP...Kurzrock R	36252553	2022
5	IL-7: Comprehensive review. ⁶²	Winer H...Durum SK	36201890	2022
6	Navigating diagnostic options for inborn errors of immunity in children: a case-based illustration. ⁶²	Khan YW...Lawrence MG	36081368	2022
7	CARMIL2 Immunodeficiency with Epstein Barr Virus Associated Smooth Muscle Tumor (EBV-SMT). Report of a Case with Comprehensive Review of Literature. ⁶²	Vij M...Scott J	34738861	2022
8	SLP76 Mutation Associated with Combined Immunodeficiency and EBV-Related Lymphoma. ⁶²	Lev A...Somech R	36474126	2022
9	Novel Loss of Function (G15D) Mutation on RAC2 in a Family with Combined Immunodeficiency and Increased Levels of Immunoglobulin G, A, and E. ⁶²	Duan X...Yang Y	36459342	2022
10	Transplantation of human cells into Interleukin-2 receptor gamma gene knockout pigs under several conditions. ⁶²	Hasegawa K...Nagashima H	35765545	2022
11	Transplantation to save the life, TSH screening to save the brain: A report and brief literature review of autoimmune thyroid disease after HSCT for severe combined immunodeficiency. ⁶²	Baccelli F...Pession A	36182049	2022
12	A novel frameshift variant in TNFRSF13B in a Chinese patient with late-onset combined immunodeficiency. ⁶²	Miao J...Shen M	36469306	2022
13	Natural history of infants with non-SCID T cell lymphopenia identified on newborn screen. ⁶²	Kubala SA...Lawrence MG	36368643	2022
14	Building connections between biomedical sciences and ethics for medical students. ⁶²	Olaiya O...Zhao Y	36456922	2022
15	Chronic reduction of store operated Ca2+ entry is viable therapeutically but is associated with cardiovascular complications. ⁶²	Yu F...Machaca K	36181482	2022
16	Investigation of murine host sex as a biological variable in epithelial barrier function and muscle contractility in human intestinal organoids. ⁶²	Beanland BT...Speer AL	36250916	2022
17	Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study. ⁶²	Al-Tamemi S...Dennison D	36324046	2022
18	Neutralization and receptor use of infectious culture-derived rat hepacivirus as a model for HCV. ⁶²	Wolfisberg R...Scheel TKH	35445423	2022
19	Individualized therapy based on the combination of mini-PDX and NGS for a patient with metastatic AFP-producing and HER-2 amplified gastric cancer. ⁶²	Zhu X...Jin C	36245818	2022
20	Extra-hematopoietic immunomodulatory role of the guanine-exchange factor DOCK2. ⁶²	Scharler C...Strunk D	36380073	2022
21	NFκB pathway dysregulation due to reduced RelB expression leads to severe autoimmune disorders and declining immunity. ⁶²	Sharfe N...Roifman CM	36402602	2022
22	A Heterozygous Gain-of-Function Variant in IKBKB Associated with Autoimmunity and Autoinflammation. ⁶²	Sacco K...Keller MD	36378426	2022
23	The use of animal models in rheumatoid arthritis research. ⁶²	Kong JS...Yoo SA	36411592	2022
24	Inborn Errors of Immunity in Patients with Adverse Events Following BCG Vaccination in Brazil. ⁶²	Lyra PT...Oliveira JB	35907101	2022
25	Kinetics of immune responses elicited after three mRNA COVID-19 vaccine doses in predominantly antibody-deficient individuals. ⁶²	Ainsua-Enrich E...Carrillo J	36320330	2022
26	The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions. ⁶²	Dvorak CC...Puck JM	36456360	2022
27	Clinical and Genetic Characterization of Patients with Artemis Deficiency in Japan. ⁶²	Inoue K...Kanegane H	36385359	2022
28	The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions. ⁶²	Dvorak CC...Puck JM	36456361	2022
29	Hematopoietic stem cell transplantation in serine/threonine kinase 4 (STK4) deficiency: Report of two cases and literature review. ⁶²	Uygun V...Yesilipek A	36394186	2022
30	TREC/KREC Newborn Screening followed by Next-Generation Sequencing for Severe Combined Immunodeficiency in Japan. ⁶²	Wakamatsu M...Takahashi Y	35902420	2022
31	Congenital adrenal calcifications as the first clinical indication of sphingosine lyase insufficiency syndrome: A case report and review of the literature. ⁶²	Ron HA...Ganetzky R	35972040	2022
32	Gene therapy for inborn errors of immunity: past, present and future. ⁶²	Fischer A	36434109	2022
33	Knockout of SLy1 decreases double-negative thymocyte proliferation and protects mice from p53-induced tumor formation. ⁶²	Gruber LC...Beer-Hammer S	36401605	2022
34	DNA replication-associated inborn errors of immunity. ⁶²	Willemsen M...Liston A	36395985	2022
35	Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients. ⁶²	Geier CB...Walter JE	35947323	2022
36	The role of the CBM complex in allergic inflammation and disease. ⁶²	DeVore SB...Khurana Hershey GK	35981904	2022
37	The role of bronchoscopy in eosinophilia and pulmonary involvement. ⁶²	Hizal M...Kiper N	36413116	2022
38	Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant. ⁶²	Vansenne F...Verbeek DS	36410285	2022
39	EPG5-Related Disorder ⁶²	Dafsari HS...Jungbluth H	36228046	2022
40	A Novel RAC2 Mutation Causing Combined Immunodeficiency. ⁶²	Zhang L...Zhao X	36190591	2022
41	Extending the PAX1 spectrum: a dominantly inherited variant causes oculo-auriculo-vertebral syndrome. ⁶²	Carter S...Bicknell LS	35879406	2022
42	Haploidentical CD3+ TCR αβ/CD19+ depleted HSCT for MHC Class II deficiency and persistent SARS-CoV-2 pneumonitis. ⁶²	Ramanathan S...Nademi Z	36210925	2022
43	Physiologically-based pharmacokinetic modeling of immunoglobulin and antibody coadministration in patients with primary human immunodeficiency. ⁶²	Salerno SN...Kakkar T	35860862	2022
44	Eczema herpeticum vs dermatitis herpetiformis as a clue of dedicator of cytokinesis 8 deficiency diagnosis: A case report. ⁶²	Alshengeti A	36312485	2022
45	Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency. ⁶²	David O...Nahum A	36258138	2022
46	Uncommon histopathological features of cytomegalovirus encephalitis and measles inclusion body encephalitis on autopsy in two patients with primary immunodeficiency. ⁶²	Jindal A...Radotra BD	36278299	2022
47	Hematopoietic Stem Cell Transplantation in ARPC1B Deficiency. ⁶²	Giardino S...Faraci M	35767111	2022
48	Clinical features of very early-onset inflammatory bowel disease in Japan: a retrospective single-center study. ⁶²	Usami M...Arai K	35686293	2022
49	Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT. ⁶²	Schuetz C...Neven B	36279417	2022
50	Parental coping with uncertainties along the severe combined immunodeficiency journey. ⁶²	Kutsa O...Biesecker BB	36303152	2022

Sources

Genes for Combined Immunodeficiency

Genes related to Combined Immunodeficiency (9 elite genes):

(show top 50) (show all 167)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ZAP70	Zeta Chain Of T Cell Receptor Associated Protein Kinase 70	Protein Coding	430.83	Pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications Summaries (show sections)
2	BCL11B	BCL11 Transcription Factor B	Protein Coding	421.25	Pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	27959755
3	CD27	CD27 Molecule	Protein Coding	420.84	Pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)
4	STAT1	Signal Transducer And Activator Of Transcription 1	Protein Coding	419.99	Pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)
5	MALT1	MALT1 Paracaspase	Protein Coding	417.71	Pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)
6	ARPC1B	Actin Related Protein 2/3 Complex Subunit 1B	Protein Coding	417.45	Pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)
7	TFRC	Transferrin Receptor	Protein Coding	416.73	Pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)
8	CARMIL2	Capping Protein Regulator And Myosin 1 Linker 2	Protein Coding	411.51	Pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴
9	CD27-AS1	CD27 Antisense RNA 1	RNA Gene	400	Pathogenic ⁵
10	IL2RG	Interleukin 2 Receptor Subunit Gamma	Protein Coding	54.37	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)
11	DCLRE1C	DNA Cross-Link Repair 1C	Protein Coding	52.73	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)
12	ICOSLG	Inducible T Cell Costimulator Ligand	Protein Coding	50.22	Likely pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴ ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)	30498080
13	RAC2	Rac Family Small GTPase 2	Protein Coding	44.98	Likely pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)
14	ADA	Adenosine Deaminase	Protein Coding	42.53	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
15	JAK3	Janus Kinase 3	Protein Coding	41.96	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
16	RAG2	Recombination Activating 2	Protein Coding	41.7	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
17	IL7R	Interleukin 7 Receptor	Protein Coding	40.39	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
18	NHEJ1	Non-Homologous End Joining Factor 1	Protein Coding	40.3	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
19	CD3D	CD3 Delta Subunit Of T-Cell Receptor Complex	Protein Coding	37.02	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
20	RAG1	Recombination Activating 1	Protein Coding	32.83	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
21	LIG4	DNA Ligase 4	Protein Coding	32.33	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
22	PIK3CD	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta	Protein Coding	30.23	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
23	PRKDC	Protein Kinase, DNA-Activated, Catalytic Subunit	Protein Coding	30.22	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
24	PTPRC	Protein Tyrosine Phosphatase Receptor Type C	Protein Coding	29.78	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
25	AK2	Adenylate Kinase 2	Protein Coding	28.92	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
26	TTC7A	Tetratricopeptide Repeat Domain 7A	Protein Coding	28.52	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
27	RFXANK	Regulatory Factor X Associated Ankyrin Containing Protein	Protein Coding	28.48	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
28	CIITA	Class II Major Histocompatibility Complex Transactivator	Protein Coding	27.07	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders Summaries (show sections)
29	BCL10	BCL10 Immune Signaling Adaptor	Protein Coding	25.75	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
30	LAT	Linker For Activation Of T Cells	Protein Coding	25.37	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
31	CD3E	CD3 Epsilon Subunit Of T-Cell Receptor Complex	Protein Coding	25.08	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
32	MYH7	Myosin Heavy Chain 7	Protein Coding	25	Likely pathogenic ⁵
33	MYOC	Myocilin	Protein Coding	25	Likely pathogenic ⁵
34	PLAA	Phospholipase A2 Activating Protein	Protein Coding	25	Likely pathogenic ⁵
35	MTHFD1	Methylenetetrahydrofolate Dehydrogenase, Cyclohydrolase And Formyltetrahydrofolate Synthetase 1	Protein Coding	24.09	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
36	DOCK8	Dedicator Of Cytokinesis 8	Protein Coding	22.58	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)
37	KNSTRN	Kinetochore Localized Astrin (SPAG5) Binding Protein	Protein Coding	22.35	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
38	IL2	Interleukin 2	Protein Coding	22.29	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)
39	PNP	Purine Nucleoside Phosphorylase	Protein Coding	22	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)
40	DOCK2	Dedicator Of Cytokinesis 2	Protein Coding	21.75	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders (show sections)
41	XRCC4	X-Ray Repair Cross Complementing 4	Protein Coding	21.28	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)
42	IL7	Interleukin 7	Protein Coding	21.1	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)
43	IL4	Interleukin 4	Protein Coding	21.01	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)
44	LRBA	LPS Responsive Beige-Like Anchor Protein	Protein Coding	20.9	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)
45	IL15	Interleukin 15	Protein Coding	20.64	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)
46	CORO1A	Coronin 1A	Protein Coding	20.5	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)
47	POLE2	DNA Polymerase Epsilon 2, Accessory Subunit	Protein Coding	20.31	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)
48	IL10	Interleukin 10	Protein Coding	19.97	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)
49	IL9	Interleukin 9	Protein Coding	19.91	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)
50	LMO2	LIM Domain Only 2	Protein Coding	19.88	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)

Sources

Variations for Combined Immunodeficiency

ClinVar genetic disease variations for Combined Immunodeficiency:

⁵ (show all 23)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	ARPC1B	NM_005720.4(ARPC1B):c.739_743del (p.Leu247fs)	DEL	Pathogenic	827687	rs760191638	GRCh37: 7:98988832-98988836 GRCh38: 7:99391209-99391213
2	overlap with 2 genes	NC_000007.14:g.99369754_99378887del	DEL	Pathogenic	827686		GRCh37: 7:98967376-98976509 GRCh38: 7:99369753-99378886
3	CARMIL2	NM_001013838.3(CARMIL2):c.1590C>A (p.Asn530Lys)	SNV	Pathogenic	562177	rs1567629968	GRCh37: 16:67682876-67682876 GRCh38: 16:67648973-67648973
4	CARMIL2	NM_001013838.3(CARMIL2):c.871+1G>T	SNV	Pathogenic	266036	rs886041044	GRCh37: 16:67681506-67681506 GRCh38: 16:67647603-67647603
5	CARMIL2	NM_001013838.3(CARMIL2):c.490dup (p.Ala164fs)	DUP	Pathogenic	266035	rs886041043	GRCh37: 16:67680638-67680639 GRCh38: 16:67646735-67646736
6	BCL11B	NM_138576.4(BCL11B):c.1323T>G (p.Asn441Lys)	SNV	Pathogenic	254673	rs750610248	GRCh37: 14:99641850-99641850 GRCh38: 14:99175513-99175513
7	MALT1	NM_006785.4(MALT1):c.1060del (p.Arg354fs)	DEL	Pathogenic	242616	rs786200954	GRCh37: 18:56390320-56390320 GRCh38: 18:58723088-58723088
8	CD27-AS1, CD27	NM_001242.5(CD27):c.250dup (p.Cys84fs)	DUP	Pathogenic	827694	rs1592117677	GRCh37: 12:6554702-6554703 GRCh38: 12:6445536-6445537
9	ZAP70	NM_001079.4(ZAP70):c.283C>T (p.Pro95Ser)	SNV	Pathogenic	827753	rs1573262398	GRCh37: 2:98340782-98340782 GRCh38: 2:97724319-97724319
10	CD27-AS1, CD27	NM_001242.5(CD27):c.319C>T (p.Arg107Cys)	SNV	Pathogenic	827695	rs371761387	GRCh37: 12:6559389-6559389 GRCh38: 12:6450223-6450223
11	TFRC	NM_001128148.3(TFRC):c.58T>C (p.Tyr20His)	SNV	Pathogenic	218163	rs863225436	GRCh37: 3:195802210-195802210 GRCh38: 3:196075339-196075339
12	STAT1	NM_007315.4(STAT1):c.1154C>T (p.Thr385Met)	SNV	Pathogenic	144006	rs587777630	GRCh37: 2:191851647-191851647 GRCh38: 2:190986921-190986921
13	ZAP70	NM_001079.4(ZAP70):c.574C>T (p.Arg192Trp)	SNV	Pathogenic	222951	rs199840952	GRCh37: 2:98349356-98349356 GRCh38: 2:97732893-97732893
14	ZAP70	NM_001079.4(ZAP70):c.1079G>C (p.Arg360Pro)	SNV	Pathogenic	222950	rs869025224	GRCh37: 2:98351172-98351172 GRCh38: 2:97734709-97734709
15	RAC2	NM_002872.5(RAC2):c.184G>A (p.Glu62Lys)	SNV	Likely Pathogenic	464885	rs1555908409	GRCh37: 22:37628882-37628882 GRCh38: 22:37232842-37232842
16	ICOSLG	NM_015259.6(ICOSLG):c.499C>T (p.Pro167Ser)	SNV	Likely Pathogenic	1339546		GRCh37: 21:45655353-45655353 GRCh38: 21:44235470-44235470
17	PLAA	NM_001031689.3(PLAA):c.1487-1G>A	SNV	Likely Pathogenic	598964	rs1426488816	GRCh37: 9:26913946-26913946 GRCh38: 9:26913948-26913948
18	MYH7	NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)	SNV	Likely Pathogenic	42901	rs3218716	GRCh37: 14:23894525-23894525 GRCh38: 14:23425316-23425316
19	MYOC	NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter)	SNV	Likely Pathogenic	7949	rs74315329	GRCh37: 1:171605478-171605478 GRCh38: 1:171636338-171636338
20	ADAR	NM_001111.5(ADAR):c.1646C>A (p.Ala549Asp)	SNV	Uncertain Significance	598987	rs1557882064	GRCh37: 1:154571017-154571017 GRCh38: 1:154598541-154598541
21	COL6A2	NM_001849.4(COL6A2):c.2008A>G (p.Thr670Ala)	SNV	Uncertain Significance	598977	rs753298014	GRCh37: 21:47545737-47545737 GRCh38: 21:46125823-46125823
22	SCNN1A	NM_001038.6(SCNN1A):c.1427G>A (p.Arg476Gln)	SNV	Uncertain Significance	598965	rs72657556	GRCh37: 12:6458505-6458505 GRCh38: 12:6349339-6349339
23	CACNA1A	NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met)	SNV	Uncertain Significance	386521	rs563345694	GRCh37: 19:13323262-13323262 GRCh38: 19:13212448-13212448

Sources

Expression for Combined Immunodeficiency

Search GEO for disease gene expression data for Combined Immunodeficiency.

Sources

Pathways for Combined Immunodeficiency

Pathways related to Combined Immunodeficiency according to GeneCards Suite gene sharing:

(show all 20)

#	Super pathways	Score	Top Affiliating Genes
1	ERK Signaling ⁶⁴ Show member pathways ILK Signaling ⁶⁴ MAPK Signaling ⁶⁴ Molecular Mechanisms of Cancer ⁶⁴ Rho Family GTPases ⁶⁴	13.66	ZAP70 STAT1 RAC2 JAK3 IL7R IL2RG
2	Innate Immune System ⁶⁶ Show member pathways Immune System ⁶⁶ Neutrophil degranulation ⁶⁶	13.62	ARPC1B CD27 CD3D ICOSLG IL2RG IL7R
3	Signal Transduction ⁶⁶	13.6	ARPC1B IL2RG JAK3 RAC2 RAG1 RAG2
4	Akt Signaling ⁶⁴ Show member pathways p38 Signaling ⁶⁴ Tec Kinases Signaling ⁶⁴	13.15	ZAP70 STAT1 RAC2 JAK3 IL7R IL2RG
5	Cytokine Signaling in Immune system ⁶⁶ Show member pathways Signaling by Interleukins ⁶⁶	13.1	STAT1 RAG2 RAG1 JAK3 IL7R IL2RG
6	TCR Signaling (Qiagen) ⁶⁴ Show member pathways Fc-EpsilonRI Pathway ⁶⁴ ITK and TCR Signaling ⁶⁴ PDGF Pathway ⁶⁴ PKC-Theta Pathway ⁶⁴	12.69	CD3D JAK3 MALT1 RAC2 STAT1 ZAP70
7	B Cell Receptor Signaling Pathway ⁶⁷ Show member pathways T Cell Receptor Signaling Pathway ⁶⁷	12.11	ZAP70 RAC2 MALT1 CD3D
8	NF-kappaB Signaling ³	12.01	ZAP70 STAT1 RAG1 MALT1 JAK3 DCLRE1C
9	CD28 Signaling in T-Helper Cell ⁶⁴ Show member pathways ICos-ICosL Pathway in T-Helper Cell ⁶⁴	11.91	ZAP70 RAC2 MALT1 IL2RG ICOSLG CD3D
10	Immune response Antigen presentation by MHC class II ²² Show member pathways G-protein signaling N-RAS regulation pathway ²² IL-22 Pathway ⁶⁴ Immune response IL-22 signaling pathway ²²	11.86	STAT1 JAK3 IL2RG CD3D
11	IL2 signaling events mediated by STAT5 ⁶¹ Show member pathways IL2 signaling events mediated by PI3K ⁶¹ IL2-mediated signaling events ⁶¹ Interleukin-2 signaling ⁶⁶	11.84	STAT1 JAK3 IL2RG
12	IL12-mediated signaling events ⁶¹ Show member pathways Immune response IL-12-induced IFN-gamma production ²²	11.8	STAT1 IL2RG CD3D
13	Interleukin-4 and Interleukin-13 signaling ⁶⁶	11.78	STAT1 JAK3 IL2RG
14	Th17 Differentiation ⁶⁵ Show member pathways IL-21 Signaling and its Primary Biological Effects in Different Immune Cell Types ⁶⁵	11.68	STAT1 JAK3 IL2RG
15	Th17 cell differentiation pathway ⁷⁴	11.54	ZAP70 STAT1 CD3D
16	SHP2 signaling ⁶¹	11.37	STAT1 JAK3 IL2RG
17	THC Differentiation Pathway ⁶⁴	11.27	ZAP70 MALT1 CD3D ARPC1B
18	DNA-PK pathway in nonhomologous end joining ⁶¹	10.67	NHEJ1 DCLRE1C
19	Interleukin-7 signaling ⁶⁶	10.58	RAG2 RAG1 JAK3 IL7R IL2RG
20	IL-7 Signaling and its Primary Biological Effects in Different Immune Cell Types ⁶⁵ Show member pathways B-Cell Development ⁶⁴	10.41	IL7R IL2RG

Sources

GO Terms for Combined Immunodeficiency

Cellular components related to Combined Immunodeficiency according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	clathrin-coated endocytic vesicle membrane	GO:0030669	9.73	CD3D IL7R TFRC
2	external side of plasma membrane	GO:0009897	9.47	TFRC IL7R IL2RG ICOSLG CD3D CD27
3	nonhomologous end joining complex	GO:0070419	9.46	DCLRE1C NHEJ1
4	DNA recombinase complex	GO:0097519	9.26	RAG2 RAG1

Biological processes related to Combined Immunodeficiency according to GeneCards Suite gene sharing:

(show all 23)

#	Name	GO ID	Score	Top Affiliating Genes
1	adaptive immune response	GO:0002250	10.34	RAG1 JAK3 ICOSLG DCLRE1C CD3D ZAP70
2	cytokine-mediated signaling pathway	GO:0019221	10.19	STAT1 JAK3 IL7R IL2RG
3	T cell receptor signaling pathway	GO:0050852	10.13	ZAP70 MALT1 ICOSLG CD3D ADA
4	T cell activation	GO:0042110	10.07	ZAP70 ICOSLG ADA
5	immune system process	GO:0002376	10.04	CD3D DCLRE1C ICOSLG JAK3 MALT1 ZAP70
6	B cell activation	GO:0042113	10.02	ICOSLG MALT1 ZAP70
7	T cell homeostasis	GO:0043029	10	RAG1 JAK3 IL7R
8	B cell differentiation	GO:0030183	10	DCLRE1C IL2RG JAK3 NHEJ1 RAG1 RAG2
9	positive regulation of T cell differentiation in thymus	GO:0033089	9.95	IL7R IL2RG ADA
10	V(D)J recombination	GO:0033151	9.93	RAG2 RAG1 DCLRE1C
11	thymocyte apoptotic process	GO:0070242	9.91	BCL11B ADA
12	positive thymic T cell selection	GO:0045059	9.91	ZAP70 CD3D
13	positive regulation of T cell differentiation	GO:0045582	9.91	ZAP70 RAG1 CD27 ADA
14	positive regulation of alpha-beta T cell differentiation	GO:0046638	9.9	ZAP70 ADA
15	interleukin-2-mediated signaling pathway	GO:0038110	9.88	JAK3 IL2RG
16	T cell differentiation	GO:0030217	9.87	ZAP70 RAG2 NHEJ1 IL7R ADA
17	interleukin-4-mediated signaling pathway	GO:0035771	9.84	IL2RG JAK3
18	pre-B cell allelic exclusion	GO:0002331	9.81	RAG2 RAG1
19	interleukin-7-mediated signaling pathway	GO:0038111	9.8	IL7R IL2RG
20	alpha-beta T cell differentiation	GO:0046632	9.8	ADA ZAP70 BCL11B
21	negative regulation of T cell apoptotic process	GO:0070233	9.63	BCL11B CD27 IL7R RAG1
22	negative regulation of thymocyte apoptotic process	GO:0070244	9.56	ADA BCL11B JAK3 RAG1
23	T cell differentiation in thymus	GO:0033077	9.4	RAG1 IL7R IL2RG BCL11B ADA RAG2