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

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Aliases & Classifications for Immunodeficiency 36

MalaCards integrated aliases for Immunodeficiency 36:

Name: Immunodeficiency 36 ⁵⁶ ⁷³ ²⁹ ⁶ ⁷¹

Imd36 ⁵⁶ ⁷³

Immunodeficiency, Type 36 ³⁹

Characteristics:

OMIM:

⁵⁶

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 616005

OMIM Phenotypic Series ⁵⁶ PS300755

MeSH ⁴³ 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 : ⁵⁶ 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)

MalaCards based summary : Immunodeficiency 36, is also known as imd36. An important gene associated with Immunodeficiency 36 is PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1). Affiliated tissues include b cells and t cells, and related phenotypes are autoimmunity and neurodevelopmental delay

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

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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	decreased antibody level in blood ³¹		HP:0004313
12	lymphopenia ³¹		HP:0001888
13	recurrent bacterial infections ³¹		HP:0002718

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

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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	Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature. ⁵⁶ ⁶	Petrovski S...Buckley RH	27076228	2016
2	Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study. ⁵⁶ ⁶	Elkaim E...Kracker S	27221134	2016
3	Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype. ⁵⁶ ⁶	Lougaris V...Tommasini A	25939554	2015
4	Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K. ⁵⁶ ⁶	Lucas CL...Lenardo MJ	25488983	2014
5	A human immunodeficiency caused by mutations in the PIK3R1 gene. ⁵⁶	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	PubmedIds
1	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	1018.27	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	7705412 25488983 25939554 (more) 27221134 27076228

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Variations for Immunodeficiency 36

ClinVar genetic disease variations for Immunodeficiency 36:

⁶ (show all 37) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	PIK3R1	NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp)	SNV	Pathogenic	60763	rs397515453	5:67592129-67592129	5:68296301-68296301
2	PIK3R1	NM_181523.3(PIK3R1):c.1425+1G>T	SNV	Pathogenic	156008	rs587777709	5:67589663-67589663	5:68293835-68293835
3	PIK3R1	NM_181523.3(PIK3R1):c.1425+1G>C	SNV	Pathogenic	156009	rs587777709	5:67589663-67589663	5:68293835-68293835
4	PIK3R1	NM_181523.3(PIK3R1):c.1425+2T>A	SNV	Pathogenic	446497	rs1554051075	5:67589664-67589664	5:68293836-68293836
5	PIK3R1	NM_181523.3(PIK3R1):c.1425+2T>G	SNV	Pathogenic	446498	rs1554051075	5:67589664-67589664	5:68293836-68293836
6	PIK3R1	NM_181523.3(PIK3R1):c.1425+2_1425+3del	deletion	Pathogenic	446499	rs1554051067	5:67589664-67589665	5:68293836-68293837
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.1425+1G>A	SNV	Pathogenic	372467	rs587777709	5:67589663-67589663	5:68293835-68293835
9	PIK3R1	NM_181523.3(PIK3R1):c.1381C>T (p.Arg461Ter)	SNV	Pathogenic	376258	rs1057519838	5:67589618-67589618	5:68293790-68293790
10	PIK3R1	NM_181523.3(PIK3R1):c.1710dup (p.Ile571fs)	duplication	Pathogenic	571336	rs1561299903	5:67591117-67591117	5:68295289-68295289
11	PIK3R1	NM_181523.3(PIK3R1):c.965del (p.Met322fs)	deletion	Pathogenic	648899		5:67588135-67588135	5:68292307-68292307
12	PIK3R1	NM_181523.3(PIK3R1):c.1185A>G (p.Pro395=)	SNV	Conflicting interpretations of pathogenicity	532024	rs149905863	5:67589197-67589197	5:68293369-68293369
13	PIK3R1	NM_181523.3(PIK3R1):c.611G>A (p.Ser204Asn)	SNV	Uncertain significance	568563		5:67575538-67575538	5:68279710-68279710
14	PIK3R1	NM_181523.3(PIK3R1):c.635-7C>G	SNV	Uncertain significance	578937	rs1561289181	5:67576349-67576349	5:68280521-68280521
15	PIK3R1	NM_181523.3(PIK3R1):c.649G>A (p.Glu217Lys)	SNV	Uncertain significance	576303		5:67576370-67576370	5:68280542-68280542
16	PIK3R1	NM_181523.3(PIK3R1):c.917-1513G>T	SNV	Uncertain significance	625995	rs144312303	5:67586574-67586574	5:68290746-68290746
17	PIK3R1	NM_181523.3(PIK3R1):c.170A>G (p.Asn57Ser)	SNV	Uncertain significance	661141		5:67522673-67522673	5:68226845-68226845
18	PIK3R1	NM_181523.3(PIK3R1):c.554C>T (p.Ala185Val)	SNV	Uncertain significance	645272		5:67575481-67575481	5:68279653-68279653
19	PIK3R1	NM_181523.3(PIK3R1):c.716C>T (p.Thr239Met)	SNV	Uncertain significance	649231		5:67576437-67576437	5:68280609-68280609
20	PIK3R1	NM_181523.3(PIK3R1):c.427+4A>C	SNV	Uncertain significance	642350		5:67569314-67569314	5:68273486-68273486
21	PIK3R1	NM_181523.3(PIK3R1):c.504T>A (p.Asp168Glu)	SNV	Uncertain significance	575186		5:67575431-67575431	5:68279603-68279603
22	PIK3R1	NM_181523.3(PIK3R1):c.1019+6G>C	SNV	Uncertain significance	532022	rs749016701	5:67588195-67588195	5:68292367-68292367
23	PIK3R1	NM_181523.3(PIK3R1):c.1020-3C>T	SNV	Uncertain significance	532023	rs200653607	5:67588926-67588926	5:68293098-68293098
24	PIK3R1	NM_181523.3(PIK3R1):c.961G>A (p.Gly321Ser)	SNV	Uncertain significance	463170	rs142439210	5:67588131-67588131	5:68292303-68292303
25	PIK3R1	NM_181523.3(PIK3R1):c.65T>C (p.Ile22Thr)	SNV	Uncertain significance	463166	rs150689648	5:67522568-67522568	5:68226740-68226740
26	PIK3R1	NM_181523.3(PIK3R1):c.202G>A (p.Asp68Asn)	SNV	Uncertain significance	463164	rs755043940	5:67522705-67522705	5:68226877-68226877
27	PIK3R1	NM_181523.3(PIK3R1):c.1396T>C (p.Leu466=)	SNV	Likely benign	532026	rs754454562	5:67589633-67589633	5:68293805-68293805
28	PIK3R1	NM_181523.3(PIK3R1):c.634+8T>C	SNV	Likely benign	440069	rs368138177	5:67575569-67575569	5:68279741-68279741
29	PIK3R1	NM_181523.3(PIK3R1):c.1300-10A>C	SNV	Likely benign	532025	rs377666209	5:67589527-67589527	5:68293699-68293699
30	PIK3R1	NM_181523.3(PIK3R1):c.621T>C (p.Ile207=)	SNV	Benign/Likely benign	159724	rs61749601	5:67575548-67575548	5:68279720-68279720
31	PIK3R1	NM_181523.3(PIK3R1):c.1176C>T (p.Phe392=)	SNV	Benign/Likely benign	159720	rs3730090	5:67589188-67589188	5:68293360-68293360
32	PIK3R1	NM_181523.3(PIK3R1):c.2109T>C (p.Leu703=)	SNV	Benign/Likely benign	159721	rs3729981	5:67593363-67593363	5:68297535-68297535
33	PIK3R1	NM_181523.3(PIK3R1):c.837-7C>T	SNV	Benign	463168	rs571365105	5:67576748-67576748	5:68280920-68280920
34	PIK3R1	NM_181523.3(PIK3R1):c.571C>T (p.Leu191=)	SNV	Benign	463165	rs533077843	5:67575498-67575498	5:68279670-68279670
35	PIK3R1	NM_181523.3(PIK3R1):c.687G>A (p.Ser229=)	SNV	Benign	463167	rs34175949	5:67576408-67576408	5:68280580-68280580
36	PIK3R1	NM_181523.3(PIK3R1):c.195A>G (p.Glu65=)	SNV	Benign	463163	rs73768883	5:67522698-67522698	5:68226870-68226870
37	PIK3R1	NM_181523.3(PIK3R1):c.536T>C (p.Val179Ala)	SNV	not provided	585151		5:67575463-67575463	5:68279635-68279635

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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

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GO Terms for Immunodeficiency 36

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Sources for Immunodeficiency 36

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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

Symptoms & Phenotypes for Immunodeficiency 36

Human phenotypes related to Immunodeficiency 36:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

GO Terms for Immunodeficiency 36

Sources for Immunodeficiency 36