Immunodeficiency 36 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

IMD36 MCID: IMM088 MIFTS: 45	Immunodeficiency 36 (IMD36) Categories: Genetic diseases, Immune diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Immunodeficiency 36

MalaCards integrated aliases for Immunodeficiency 36:

Name: Immunodeficiency 36 ⁵⁷ ¹² ⁷³ ²⁹ ⁶ ¹⁵ ⁷¹

Imd36 ⁵⁷ ¹² ⁷³

Activated Phosphoinositide 3-Kinase Delta Syndrome 2 ¹²

Immunodeficiency, Type 36 ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal dominant

Miscellaneous:
onset in early childhood
four patients from 3 families have been reported (last curated september 2014)

HPO:

³¹

immunodeficiency 36:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Immune diseases Respiratory diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111949

OMIM® ⁵⁷ 616005

OMIM Phenotypic Series ⁵⁷ PS300755

MeSH ⁴⁴ D007153

MedGen ⁴¹ C4014934 CN219437

SNOMED-CT via HPO ⁶⁸ 109979007 119250001 12295008 more

UMLS ⁷¹ C4014934

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Summaries for Immunodeficiency 36

OMIM® : ⁵⁷ IMD36 is a primary immunodeficiency with a highly heterogeneous clinical phenotype, characterized primarily by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency. Other features include growth retardation, mild neurodevelopmental delay, and autoimmunity. The major complication is development of B-cell lymphoma (Elkaim et al., 2016). (616005) (Updated 05-Mar-2021)

MalaCards based summary : Immunodeficiency 36, also known as imd36, is related to immunodeficiency 50 and felty syndrome. An important gene associated with Immunodeficiency 36 is PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and TNFR1 Pathway. Affiliated tissues include b cells and t cells, and related phenotypes are autoimmunity and neurodevelopmental delay

Disease Ontology : ¹² A combined T cell and B cell immunodeficiency characterized by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency that has material basis in heterozygous mutation in PIK3R1 on chromosome 5q13.1.

UniProtKB/Swiss-Prot : ⁷³ Immunodeficiency 36: A primary immunodeficiency characterized by impaired B-cell function, hypogammaglobulinemia and recurrent infections.

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Related Diseases for Immunodeficiency 36

Diseases related to Immunodeficiency 36 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 203)

#	Related Disease	Score	Top Affiliating Genes
1	immunodeficiency 50	10.1	CD8A B3GAT1
2	felty syndrome	10.1	CD8A B3GAT1
3	uterine corpus cancer	10.0	PIK3R1 AKT1
4	pericardial tuberculosis	10.0	NELFCD CD4
5	tuberculoid leprosy	10.0	NELFCD CD4
6	hypersplenism	10.0	PIK3R1 CD4
7	cowden syndrome 1	9.9	PIK3R1 PIK3CD AKT1
8	cowden syndrome	9.9	PIK3R1 PIK3CD AKT1
9	cork-handlers' disease	9.9	CD8A CD4
10	necrotic uveal melanoma	9.9	CD8A CD4
11	early yaws	9.9	CD8A CD4
12	ventilation pneumonitis	9.9	CD8A CD4
13	diffuse infiltrative lymphocytosis syndrome	9.9	CD8A CD4
14	latent syphilis	9.9	CD8A CD4
15	syphilis	9.9	CD8A CD4
16	type 1 diabetes mellitus 23	9.9	CD8A CD4
17	autoimmune lymphoproliferative syndrome, type iia	9.9	CD8A CD4
18	parapsoriasis	9.9	CD8A CD4
19	gastroduodenitis	9.9	CD8A CD4
20	duodenitis	9.9	CD8A CD4
21	primary syphilis	9.9	CD8A CD4
22	norwegian scabies	9.9	CD8A CD4
23	bird fancier's lung	9.9	CD8A CD4
24	skin sarcoidosis	9.9	CD8A CD4
25	metal allergy	9.9	CD8A CD4
26	variola major	9.9	CD8A CD4
27	follicular mucinosis	9.9	CD8A CD4
28	tertiary syphilis	9.9	CD8A CD4
29	spongiotic dermatitis	9.9	CD8A CD4
30	acute retinal necrosis syndrome	9.9	CD8A CD4
31	cerebral lymphoma	9.9	CD8A CD4
32	cerebritis	9.9	CD8A CD4
33	invasive malignant thymoma	9.9	CD8A CD4
34	west nile encephalitis	9.9	CD8A CD4
35	granulomatous hepatitis	9.9	CD8A CD4
36	exanthema subitum	9.9	CD8A CD4
37	viral exanthem	9.9	CD8A CD4
38	secondary syphilis	9.9	CD8A CD4
39	oral hairy leukoplakia	9.9	CD8A CD4
40	superficial basal cell carcinoma	9.9	CD8A CD4
41	esophageal candidiasis	9.9	CD8A CD4
42	parotid disease	9.9	CD8A CD4
43	myeloid and lymphoid neoplasms associated with fgfr1 abnormalities	9.9	CD8A CD4
44	ulcerative stomatitis	9.9	CD8A CD4
45	granulomatous dermatitis	9.9	CD8A CD4
46	west nile fever	9.9	CD8A CD4
47	neurosarcoidosis	9.9	CD8A CD4
48	retinitis pigmentosa 46	9.9	CD8A CD4
49	pneumonic tularemia	9.9	CD8A CD4
50	tularemia	9.9	CD8A CD4

Graphical network of the top 20 diseases related to Immunodeficiency 36:

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Symptoms & Phenotypes for Immunodeficiency 36

Human phenotypes related to Immunodeficiency 36:

³¹ (show all 13)

#	Description	HPO Frequency	HPO Source Accession
1	autoimmunity ³¹	very rare (1%)	HP:0002960
2	neurodevelopmental delay ³¹	very rare (1%)	HP:0012758
3	chronic diarrhea ³¹	very rare (1%)	HP:0002028
4	bronchiectasis ³¹	very rare (1%)	HP:0002110
5	chronic lymphatic leukemia ³¹	very rare (1%)	HP:0005550
6	b-cell lymphoma ³¹	very rare (1%)	HP:0012191
7	splenomegaly ³¹		HP:0001744
8	recurrent respiratory infections ³¹		HP:0002205
9	short stature ³¹		HP:0004322
10	immunodeficiency ³¹		HP:0002721
11	lymphopenia ³¹		HP:0001888
12	recurrent bacterial infections ³¹		HP:0002718
13	decreased circulating antibody level ³¹		HP:0004313

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Abdomen Spleen:
splenomegaly

Growth Height:
short stature

Growth Other:
poor growth

Respiratory Airways:
bronchiectasis (in some patients)

Neoplasia:
classic hodgkin lymphoma (in some patients)
b-cell lymphoma (in some patients)
chronic lymphocytic leukemia (rare)

Respiratory:
recurrent respiratory infections
upper respiratory tract lymphoid hyperplasia

Immunology:
recurrent bacterial infections
hypogammaglobulinemia
primary immunodeficiency
b-cell lymphopenia
decreased memory b cells
more

Abdomen Gastrointestinal:
chronic diarrhea (in some patients)

Neurologic Central Nervous System:
neurodevelopmental delay, mild (in some patients)

Clinical features from OMIM®:

616005 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Immunodeficiency 36 according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00221-A-1	9.28	AKT1 PIK3CD PIK3R1
2	Decreased viability	GR00221-A-2	9.28	AKT1
3	Decreased viability	GR00221-A-3	9.28	AKT1 PIK3CD PIK3R1
4	Decreased viability	GR00221-A-4	9.28	AKT1
5	Decreased viability	GR00249-S	9.28	AKT1

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Drugs & Therapeutics for Immunodeficiency 36

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 36

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Genetic Tests for Immunodeficiency 36

Genetic tests related to Immunodeficiency 36:

#	Genetic test	Affiliating Genes
1	Immunodeficiency 36 ²⁹	PIK3R1

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Anatomical Context for Immunodeficiency 36

MalaCards organs/tissues related to Immunodeficiency 36:

⁴⁰

B Cells, T Cells

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Publications for Immunodeficiency 36

Articles related to Immunodeficiency 36:

#	Title	Authors	PMID	Year
1	Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study. ⁵⁷ ⁶	Elkaim E...Kracker S	27221134	2016
2	Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature. ⁶ ⁵⁷	Petrovski S...Buckley RH	27076228	2016
3	Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype. ⁵⁷ ⁶	Lougaris V...Tommasini A	25939554	2015
4	Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K. ⁶ ⁵⁷	Lucas CL...Lenardo MJ	25488983	2014
5	A human immunodeficiency caused by mutations in the PIK3R1 gene. ⁵⁷	Deau MC...Kracker S	25133428	2014
6	Predominance of sterile immunoglobulin transcripts in a female phenotypically resembling Bruton's agammaglobulinemia. ⁶	de la Morena M...Litman GW	7705412	1995
7	Primary immunodeficiencies : Report of 33 Pediatric Tunisian cases. ⁶¹	Halioui-Louhaichi S...Maherzi A	27704518	2016
8	[Intravenous immunoglobulin (Endobulin) clinical tolerance: prospective therapeutic follow-up of 142 adults and children]. ⁶¹	Pautard B...Chantreuil L	12888171	2003

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Genes for Immunodeficiency 36

Genes related to Immunodeficiency 36 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	1049.16	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	7705412 25488983 25939554
2	NELFCD	Negative Elongation Factor Complex Member C/D	Protein Coding	5.46	DISEASES inferred ¹⁵
3	B3GAT1	Beta-1,3-Glucuronyltransferase 1	Protein Coding	5.43	DISEASES inferred ¹⁵
4	PIK3CD	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta	Protein Coding	4.49	DISEASES inferred ¹⁵
5	CD8A	CD8a Molecule	Protein Coding	4.1	DISEASES inferred ¹⁵
6	CD4	CD4 Molecule	Protein Coding	3.94	DISEASES inferred ¹⁵
7	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	3.64	DISEASES inferred ¹⁵

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Variations for Immunodeficiency 36

ClinVar genetic disease variations for Immunodeficiency 36:

⁶ (show top 50) (show all 87)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	PIK3R1	NM_181523.3(PIK3R1):c.1425+1G>T	SNV	Pathogenic	156008	rs587777709	5:67589663-67589663	5:68293835-68293835
2	PIK3R1	NM_181523.3(PIK3R1):c.1425+1G>C	SNV	Pathogenic	156009	rs587777709	5:67589663-67589663	5:68293835-68293835
3	PIK3R1	NM_181523.3(PIK3R1):c.1425+2T>G	SNV	Pathogenic	446498	rs1554051075	5:67589664-67589664	5:68293836-68293836
4	PIK3R1	NM_181523.3(PIK3R1):c.1425+1G>A	SNV	Pathogenic	372467	rs587777709	5:67589663-67589663	5:68293835-68293835
5	PIK3R1	NM_181523.3(PIK3R1):c.1425+2_1425+3del	Deletion	Pathogenic	446499	rs1554051067	5:67589663-67589664	5:68293835-68293836
6	PIK3R1	NM_181523.3(PIK3R1):c.1425+2T>A	SNV	Pathogenic	446497	rs1554051075	5:67589664-67589664	5:68293836-68293836
7	PIK3R1	NM_181523.3(PIK3R1):c.1300-1G>C	SNV	Pathogenic	446500	rs1554051033	5:67589536-67589536	5:68293708-68293708
8	PIK3R1	NM_181523.3(PIK3R1):c.1710dup (p.Ile571fs)	Duplication	Pathogenic	571336	rs1561299903	5:67591115-67591116	5:68295287-68295288
9	PIK3R1	NM_181523.3(PIK3R1):c.1425+1G>A	SNV	Pathogenic	372467	rs587777709	5:67589663-67589663	5:68293835-68293835
10	PIK3R1	NM_181523.3(PIK3R1):c.1381C>T (p.Arg461Ter)	SNV	Pathogenic	376258	rs1057519838	5:67589618-67589618	5:68293790-68293790
11	PIK3R1	NM_181523.3(PIK3R1):c.1425+1G>C	SNV	Pathogenic	156009	rs587777709	5:67589663-67589663	5:68293835-68293835
12	PIK3R1	NM_181523.3(PIK3R1):c.965del (p.Met322fs)	Deletion	Pathogenic	648899	rs1580260232	5:67588135-67588135	5:68292307-68292307
13	PIK3R1	NM_181523.3(PIK3R1):c.1404_1425+4del	Deletion	Pathogenic	935112		5:67589638-67589663	5:68293810-68293835
14	PIK3R1	NM_181523.3(PIK3R1):c.1425+1G>T	SNV	Pathogenic	156008	rs587777709	5:67589663-67589663	5:68293835-68293835
15	PIK3R1	NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp)	SNV	Pathogenic	60763	rs397515453	5:67592129-67592129	5:68296301-68296301
16	PIK3R1	NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp)	SNV	Likely pathogenic	60763	rs397515453	5:67592129-67592129	5:68296301-68296301
17	PIK3R1	NM_181523.3(PIK3R1):c.1300-2A>G	SNV	Likely pathogenic	827732	rs1403833564	5:67589535-67589535	5:68293707-68293707
18	PIK3R1	NM_181523.3(PIK3R1):c.1462A>G (p.Asn488Asp)	SNV	Uncertain significance	859537		5:67590400-67590400	5:68294572-68294572
19	PIK3R1	NM_181523.3(PIK3R1):c.1921_1931del (p.Lys641fs)	Deletion	Uncertain significance	861979		5:67592103-67592113	5:68296275-68296285
20	PIK3R1	NM_181523.3(PIK3R1):c.747G>C (p.Lys249Asn)	SNV	Uncertain significance	863370		5:67576468-67576468	5:68280640-68280640
21	PIK3R1	NM_181523.3(PIK3R1):c.563G>A (p.Arg188His)	SNV	Uncertain significance	624051	rs148059720	5:67575490-67575490	5:68279662-68279662
22	PIK3R1	NM_181523.3(PIK3R1):c.752C>T (p.Ser251Phe)	SNV	Uncertain significance	834213		5:67576473-67576473	5:68280645-68280645
23	PIK3R1	NM_181523.3(PIK3R1):c.514G>A (p.Val172Met)	SNV	Uncertain significance	835242		5:67575441-67575441	5:68279613-68279613
24	PIK3R1	NM_181523.3(PIK3R1):c.722A>T (p.Gln241Leu)	SNV	Uncertain significance	841166		5:67576443-67576443	5:68280615-68280615
25	PIK3R1	NM_181523.3(PIK3R1):c.257C>T (p.Thr86Ile)	SNV	Uncertain significance	843492		5:67522760-67522760	5:68226932-68226932
26	PIK3R1	NM_181523.3(PIK3R1):c.251C>G (p.Pro84Arg)	SNV	Uncertain significance	846266		5:67522754-67522754	5:68226926-68226926
27	PIK3R1	NM_181523.3(PIK3R1):c.2168G>A (p.Arg723Lys)	SNV	Uncertain significance	847379		5:67593422-67593422	5:68297594-68297594
28	PIK3R1	NM_181523.3(PIK3R1):c.1508G>T (p.Arg503Leu)	SNV	Uncertain significance	848444		5:67590446-67590446	5:68294618-68294618
29	PIK3R1	NM_181523.3(PIK3R1):c.1844A>T (p.Asp615Val)	SNV	Uncertain significance	849630		5:67592028-67592028	5:68296200-68296200
30	PIK3R1	NM_181523.3(PIK3R1):c.1300-10A>T	SNV	Uncertain significance	849969		5:67589527-67589527	5:68293699-68293699
31	PIK3R1	NM_181523.3(PIK3R1):c.348G>A (p.Pro116=)	SNV	Uncertain significance	851179		5:67569231-67569231	5:68273403-68273403
32	PIK3R1	NM_181523.3(PIK3R1):c.332A>G (p.Gln111Arg)	SNV	Uncertain significance	853571		5:67522835-67522835	5:68227007-68227007
33	PIK3R1	NM_181523.3(PIK3R1):c.347C>T (p.Pro116Leu)	SNV	Uncertain significance	855460		5:67569230-67569230	5:68273402-68273402
34	PIK3R1	NM_181523.3(PIK3R1):c.686C>T (p.Ser229Leu)	SNV	Uncertain significance	855725		5:67576407-67576407	5:68280579-68280579
35	PIK3R1	NM_181523.3(PIK3R1):c.676C>G (p.Leu226Val)	SNV	Uncertain significance	856837		5:67576397-67576397	5:68280569-68280569
36	PIK3R1	NM_181523.3(PIK3R1):c.485G>T (p.Arg162Leu)	SNV	Uncertain significance	857677		5:67569824-67569824	5:68273996-68273996
37	PIK3R1	NM_181523.3(PIK3R1):c.2011_2012del (p.Val671fs)	Microsatellite	Uncertain significance	950410		5:67593262-67593263	5:68297434-68297435
38	PIK3R1	NM_181523.3(PIK3R1):c.200G>A (p.Gly67Glu)	SNV	Uncertain significance	951482		5:67522703-67522703	5:68226875-68226875
39	PIK3R1	NM_181523.3(PIK3R1):c.334+4_334+9del	Deletion	Uncertain significance	961973		5:67522841-67522846	5:68227013-68227018
40	PIK3R1	NM_181523.3(PIK3R1):c.2132A>G (p.Asn711Ser)	SNV	Uncertain significance	964329		5:67593386-67593386	5:68297558-68297558
41	PIK3R1	NM_181523.3(PIK3R1):c.553G>A (p.Ala185Thr)	SNV	Uncertain significance	967011		5:67575480-67575480	5:68279652-68279652
42	PIK3R1	NM_181523.3(PIK3R1):c.1861G>A (p.Glu621Lys)	SNV	Uncertain significance	968750		5:67592045-67592045	5:68296217-68296217
43	PIK3R1	NM_181523.3(PIK3R1):c.399C>G (p.Ile133Met)	SNV	Uncertain significance	969295		5:67569282-67569282	5:68273454-68273454
44	PIK3R1	NM_181523.3(PIK3R1):c.661C>T (p.Gln221Ter)	SNV	Uncertain significance	982699		5:67576382-67576382	5:68280554-68280554
45	PIK3R1	NM_181523.3(PIK3R1):c.967_978del (p.Asn323_Met326del)	Deletion	Uncertain significance	940717		5:67588133-67588144	5:68292305-68292316
46	PIK3R1	NM_181523.3(PIK3R1):c.562C>T (p.Arg188Cys)	SNV	Uncertain significance	943204		5:67575489-67575489	5:68279661-68279661
47	PIK3R1	NM_181523.3(PIK3R1):c.889G>A (p.Glu297Lys)	SNV	Uncertain significance	946102		5:67576807-67576807	5:68280979-68280979
48	PIK3R1	NM_181523.3(PIK3R1):c.917-1513G>T	SNV	Uncertain significance	625995	rs144312303	5:67586574-67586574	5:68290746-68290746
49	PIK3R1	NM_181523.3(PIK3R1):c.427+4A>C	SNV	Uncertain significance	642350	rs1380740486	5:67569314-67569314	5:68273486-68273486
50	PIK3R1	NM_181523.3(PIK3R1):c.554C>T (p.Ala185Val)	SNV	Uncertain significance	645272	rs1264292969	5:67575481-67575481	5:68279653-68279653

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Expression for Immunodeficiency 36

Search GEO for disease gene expression data for Immunodeficiency 36.

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Pathways for Immunodeficiency 36

Pathways related to Immunodeficiency 36 according to GeneCards Suite gene sharing:

(show top 50) (show all 108)

#	Super pathways	Score	Top Affiliating Genes
1	Class I MHC mediated antigen processing and presentation ⁶⁵ Show member pathways Adaptive Immune System ⁶⁵ Antigen processing- Ubiquitination and Proteasome degradation ⁶⁵	13.3	PIK3R1 PIK3CD CD8A CD4 AKT1
2	TNFR1 Pathway ⁶³ Show member pathways Apoptosis and survival TNFR1 signaling pathway ²³ Apoptosis through Death Receptors ⁶³ Apoptotic Pathways Triggered By HIV1 ⁶³ Death Receptor Signaling ⁶⁶ DR3 Signaling ⁶³ Fas Signaling ⁶³ GITR Pathway ⁶³ HIV-1 Nef- Negative effector of Fas and TNF-alpha ¹ Stimulation of the cell death response by PAK-2p34 ⁶⁵ TNF alpha Signaling Pathway ¹ TNF related weak inducer of apoptosis (TWEAK) Signaling Pathway ¹ TNF Signaling ⁶³ TNF Signaling ⁶⁶ TRAIL Pathway ⁶³ TWEAK Pathway ⁶³	12.95	PIK3R1 PIK3CD CD4 AKT1
3	Human cytomegalovirus infection ³⁶ Show member pathways Human immunodeficiency virus 1 infection ³⁶ Kaposi sarcoma-associated herpesvirus infection ³⁶	12.82	PIK3R1 PIK3CD CD4 AKT1
4	TCR Signaling (Qiagen) ⁶³ Show member pathways Fc-EpsilonRI Pathway ⁶³ PDGF Pathway ⁶³ PKC-Theta Pathway ⁶³ TCR Signaling ⁶³	12.8	PIK3R1 CD8A CD4 AKT1
5	CCR5 Pathway in Macrophages ⁶³ Show member pathways Androgen Signaling ⁶³ Chemokine Signaling ⁶³ Chemokine signaling pathway ³⁶	12.75	PIK3R1 PIK3CD CD4 AKT1
6	Development Endothelin-1/EDNRA signaling ²³ Show member pathways Cytoskeleton remodeling FAK signaling ²³ Development Endothelin-1/EDNRA transactivation of EGFR ²³ GnRH signaling pathway ³⁶ Inflammatory mediator regulation of TRP channels ³⁶	12.54	PIK3R1 PIK3CD AKT1
7	Immune response Fc epsilon RI pathway ²³ Show member pathways Fc epsilon RI signaling pathway ³⁶ Fc-epsilon receptor I signaling in mast cells ¹ Immune response BCR pathway ²³ VEGF signaling pathway ³⁶	12.49	PIK3R1 PIK3CD AKT1
8	Development Dopamine D2 receptor transactivation of EGFR ²³ Show member pathways Apoptosis and survival BAD phosphorylation ²³ BAD Phosphorylation ⁶³ Chemotaxis CXCR4 signaling pathway ²³ Development Alpha-2 adrenergic receptor activation of ERK ²³	12.48	PIK3R1 PIK3CD AKT1
9	Notch Signaling Pathway (WikiPathways) ³⁶ Show member pathways Notch signaling pathway ¹ Notch Signaling Pathway ¹ Notch Signaling Pathway ¹ Notch Signaling Pathways ⁶⁴	12.46	PIK3R1 PIK3CD AKT1
10	Immune response NFAT in immune response ²³ Show member pathways Immune response CD28 signaling ²³ Immune response ICOS pathway in T-helper cell ²³ Immune response T cell receptor signaling pathway ²³	12.46	PIK3R1 PIK3CD CD4 AKT1
11	Angiopoietin Like Protein 8 Regulatory Pathway ¹ Show member pathways Insulin Signaling ¹ Liver X Receptor Pathway ¹	12.43	PIK3R1 PIK3CD AKT1
12	mTOR signaling pathway (KEGG) ³⁶ Show member pathways mTOR Signaling Pathway ⁶⁴	12.41	PIK3R1 PIK3CD AKT1
13	AMP-activated Protein Kinase (AMPK) Signaling ¹ Show member pathways AMPK signaling pathway ³⁶ AMPK Signaling Pathway ⁶⁶	12.4	PIK3R1 PIK3CD AKT1
14	Prolactin Signaling Pathway ¹ ³⁶ Show member pathways Development Prolactin receptor signaling ²³ Leptin signaling pathway ¹	12.39	PIK3R1 PIK3CD AKT1
15	B Cell Receptor Signaling Pathway (sino) ⁶⁶ Show member pathways B Cell Receptor Signaling Pathway ⁶⁶	12.37	PIK3R1 CD4 AKT1
16	Apoptosis Pathway ⁷⁰ Show member pathways Akt Pathway ⁷⁰ NF-kappaB Pathway ⁷⁰	12.36	PIK3R1 PIK3CD AKT1
17	Immune response IL-23 signaling pathway ²³ Show member pathways Angiopoietin receptor Tie2-mediated signaling ¹ Angiopoietin-TIE2 Signaling ⁶³ Development Angiopoietin - Tie2 signaling ²³ Development PDGF signaling via STATs and NF-kB ²³ IL23-mediated signaling events ¹ Immune response IL-10 signaling pathway ²³ Rac1/Pak1/p38/MMP-2 pathway ¹	12.36	PIK3R1 PIK3CD CD4 AKT1
18	JAK-STAT signaling pathway ³⁶ Show member pathways B-Cell Development ⁶³ IL-7 Signaling Pathways and their Primary Biological Effects in Different Immune Cell Types ⁶⁴ Interleukin-19, 20, 22, 24 ⁶⁵ Jak/STAT Signaling Pathway ⁶⁴ Type III interferon signaling ¹	12.33	PIK3R1 PIK3CD AKT1
19	VEGF Pathway (Qiagen) ⁶³ Show member pathways CCKBR-Gastrin Stimulated Signaling ⁶³ Development VEGF-family signaling ²³ Neurophilin interactions with VEGF and VEGFR ⁶⁵ VEGF Pathway ⁶³	12.32	PIK3R1 PIK3CD AKT1
20	B cell receptor signaling pathway (KEGG) ³⁶ Show member pathways B Cell Receptor Signaling Pathway ¹ BCR signaling pathway ¹	12.32	PIK3R1 PIK3CD AKT1
21	Shigellosis ³⁶	12.32	PIK3R1 PIK3CD AKT1
22	Phospholipase D signaling pathway ³⁶ Show member pathways Choline metabolism in cancer ³⁶	12.32	PIK3R1 PIK3CD AKT1
23	Development VEGF signaling via VEGFR2 - generic cascades ²³ Show member pathways Development VEGF signaling and activation ²³ VEGF - VEGF R2 Signaling Pathways ⁶⁴	12.31	PIK3R1 PIK3CD AKT1
24	Development IGF-1 receptor signaling ²³ Show member pathways IL-4 Signaling Pathway ¹ Immune response IL-4 signaling pathway ²³ Signal transduction AKT signaling ²³	12.31	PIK3R1 PIK3CD AKT1
25	Development FGFR signaling pathway ²³ Show member pathways Development FGF-family signaling ²³ Development Flt3 signaling ²³ FGF Pathway ⁶³	12.31	PIK3R1 PIK3CD AKT1
26	ICos-ICosL Pathway in T-Helper Cell ⁶³ Show member pathways Calcium Mediated T-Cell Apoptosis ⁶³ CD28 Signaling in T-Helper Cell ⁶³	12.3	PIK3R1 CD4 AKT1
27	Oocyte meiosis ³⁶ Show member pathways Progesterone-mediated oocyte maturation ³⁶	12.27	PIK3R1 PIK3CD AKT1
28	Development ERBB-family signaling ²³ Show member pathways Development EGFR signaling pathway ²³ EGF Pathway ⁶³ ErbB receptor signaling network ¹ GRB7 events in ERBB2 signaling ⁶⁵ PLCG1 events in ERBB2 signaling ⁶⁵	12.25	PIK3R1 PIK3CD AKT1
29	cAMP signaling pathway ³⁶	12.24	PIK3R1 PIK3CD AKT1
30	Toll Comparative Pathway ⁶³ Show member pathways IL-1 Pathway ⁶³ Immune response MIF in innate immunity response ²³ iNOS Signaling ⁶³ TLR-TRIF Pathway ⁶³	12.23	PIK3R1 PIK3CD AKT1
31	Development Ligand-independent activation of ESR1 and ESR2 ²³ Show member pathways Transcription CREB pathway ²³ Transcription PPAR Pathway ²³	12.23	PIK3R1 PIK3CD AKT1
32	Proteoglycans in cancer ³⁶	12.21	PIK3R1 PIK3CD AKT1
33	G-protein signaling Ras family GTPases in kinase cascades (scheme) ²³ Show member pathways Activation of the AP-1 family of transcription factors ⁶⁵ Immune response Oncostatin M signaling via MAPK in human cells ²³ MAPK Cascade ¹ Nanoparticle-mediated activation of receptor signaling ¹ Oncostatin M Signaling Pathway ¹	12.21	PIK3R1 PIK3CD AKT1
34	MAPK Signaling: Mitogen Stimulation Pathway ⁶⁴ Show member pathways Akt Signaling Pathway ⁶⁴	12.14	PIK3R1 PIK3CD AKT1
35	C-type lectin receptor signaling pathway ³⁶ Show member pathways Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways ⁶⁴	12.12	PIK3R1 PIK3CD AKT1
36	CD28 co-stimulation ⁶⁵ Show member pathways Activation of AKT2 ⁶⁵ CD28 dependent PI3K/Akt signaling ⁶⁵ CD28 dependent Vav1 pathway ⁶⁵ Costimulation by the CD28 family ⁶⁵ VEGFR2 mediated vascular permeability ⁶⁵	12.12	PIK3R1 CD4 AKT1
37	GDNF-Family Ligands and Receptor Interactions ⁶³ Show member pathways BDNF Pathway ⁶³ Development GDNF family signaling ²³	12.11	PIK3R1 PIK3CD AKT1
38	T cell receptor signaling pathway ³⁶ Show member pathways PD-L1 expression and PD-1 checkpoint pathway in cancer ³⁶ T-Cell antigen Receptor (TCR) Signaling Pathway ¹ T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection ¹	12.1	PIK3R1 PIK3CD CD8A CD4 AKT1
39	mTOR Pathway ⁷⁰ Show member pathways Insulin Pathway ⁷⁰ TGF-beta Pathway ⁷⁰	12.08	PIK3R1 PIK3CD AKT1
40	Kit receptor signaling pathway ¹ Show member pathways IL-3 Signaling Pathway ¹ Signaling events mediated by Stem cell factor receptor (c-Kit) ¹	12.08	PIK3R1 PIK3CD AKT1
41	MicroRNAs in cardiomyocyte hypertrophy ¹ Show member pathways Cardiac Hypertrophic Response ¹	12.07	PIK3R1 PIK3CD AKT1
42	Cellular senescence (KEGG) ³⁶	12.06	PIK3R1 PIK3CD AKT1
43	G beta-gamma signalling through PI3Kgamma ⁶⁵ Show member pathways G-protein beta-gamma signalling ⁶⁵ GPVI-mediated activation cascade ⁶⁵	12.05	PIK3R1 PIK3CD AKT1
44	Longevity regulating pathway ³⁶ Show member pathways Longevity regulating pathway - multiple species ³⁶	12.04	PIK3R1 PIK3CD AKT1
45	Development EGFR signaling via small GTPases ²³ Show member pathways Development EGFR signaling via PIP3 ²³ Development PDGF signaling via MAPK cascades ²³ PDGF Pathway ¹	12.03	PIK3R1 PIK3CD AKT1
46	Spinocerebellar ataxia ³⁶	12.01	PIK3R1 PIK3CD AKT1
47	Signaling pathways regulating pluripotency of stem cells ³⁶	12	PIK3R1 PIK3CD AKT1
48	Fluid shear stress and atherosclerosis ³⁶	11.99	PIK3R1 PIK3CD AKT1
49	FoxO signaling pathway ³⁶ Show member pathways PLK2 and PLK4 events ¹ Polo-like kinase signaling events in the cell cycle ¹	11.98	PIK3R1 PIK3CD AKT1
50	Autophagy - animal ³⁶	11.98	PIK3R1 PIK3CD AKT1

Sources

GO Terms for Immunodeficiency 36

Cellular components related to Immunodeficiency 36 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	phosphatidylinositol 3-kinase complex	GO:0005942	8.62	PIK3R1 PIK3CD

Biological processes related to Immunodeficiency 36 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	T cell receptor signaling pathway	GO:0050852	9.54	PIK3R1 PIK3CD CD4
2	epidermal growth factor receptor signaling pathway	GO:0007173	9.46	PIK3R1 AKT1
3	cytokine-mediated signaling pathway	GO:0019221	9.46	PIK3R1 PIK3CD CD4 AKT1
4	T cell differentiation	GO:0030217	9.43	PIK3CD CD4
5	positive regulation of glucose import	GO:0046326	9.4	PIK3R1 AKT1
6	insulin-like growth factor receptor signaling pathway	GO:0048009	9.32	PIK3R1 AKT1
7	cellular response to granulocyte macrophage colony-stimulating factor stimulus	GO:0097011	9.26	CD4 AKT1
8	T cell activation	GO:0042110	9.13	PIK3CD CD8A CD4
9	phosphatidylinositol 3-kinase signaling	GO:0014065	8.8	PIK3R1 PIK3CD AKT1

Molecular functions related to Immunodeficiency 36 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	coreceptor activity	GO:0015026	8.62	CD8A CD4

Sources

Sources for Immunodeficiency 36

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Immunodeficiency 36 (IMD36)

Aliases & Classifications for Immunodeficiency 36

MalaCards integrated aliases for Immunodeficiency 36:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Immunodeficiency 36

Related Diseases for Immunodeficiency 36

Diseases related to Immunodeficiency 36 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Immunodeficiency 36:

Symptoms & Phenotypes for Immunodeficiency 36

Human phenotypes related to Immunodeficiency 36:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

GenomeRNAi Phenotypes related to Immunodeficiency 36 according to GeneCards Suite gene sharing:

Drugs & Therapeutics for Immunodeficiency 36

Genetic Tests for Immunodeficiency 36

Genetic tests related to Immunodeficiency 36:

Anatomical Context for Immunodeficiency 36

MalaCards organs/tissues related to Immunodeficiency 36:

Publications for Immunodeficiency 36

Articles related to Immunodeficiency 36:

Genes for Immunodeficiency 36

Genes related to Immunodeficiency 36 (1 elite genes):

Variations for Immunodeficiency 36

ClinVar genetic disease variations for Immunodeficiency 36:

Expression for Immunodeficiency 36

Pathways for Immunodeficiency 36

Pathways related to Immunodeficiency 36 according to GeneCards Suite gene sharing:

GO Terms for Immunodeficiency 36

Cellular components related to Immunodeficiency 36 according to GeneCards Suite gene sharing:

Biological processes related to Immunodeficiency 36 according to GeneCards Suite gene sharing:

Molecular functions related to Immunodeficiency 36 according to GeneCards Suite gene sharing:

Sources for Immunodeficiency 36