IMD36
MCID: IMM088
MIFTS: 25

Immunodeficiency 36 (IMD36)

Categories: Genetic diseases, Immune diseases

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:



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.

Related Diseases for Immunodeficiency 36

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:

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

Drugs & Therapeutics for Immunodeficiency 36

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 36

Genetic Tests for Immunodeficiency 36

Genetic tests related to Immunodeficiency 36:

# Genetic test Affiliating Genes
1 Immunodeficiency 36 29 PIK3R1

Anatomical Context for Immunodeficiency 36

MalaCards organs/tissues related to Immunodeficiency 36:

40
B Cells, T Cells

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
27076228 2016
2
Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study. 6 56
27221134 2016
3
Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype. 56 6
25939554 2015
4
Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K. 56 6
25488983 2014
5
A human immunodeficiency caused by mutations in the PIK3R1 gene. 56
25133428 2014
6
Predominance of sterile immunoglobulin transcripts in a female phenotypically resembling Bruton's agammaglobulinemia. 6
7705412 1995
7
Primary immunodeficiencies : Report of 33 Pediatric Tunisian cases. 61
27704518 2016
8
[Intravenous immunoglobulin (Endobulin) clinical tolerance: prospective therapeutic follow-up of 142 adults and children]. 61
12888171 2003

Variations for Immunodeficiency 36

ClinVar genetic disease variations for Immunodeficiency 36:

6 (show top 50) (show all 69) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PIK3R1 NM_181523.3(PIK3R1):c.1425+2T>ASNV Pathogenic 446497 rs1554051075 5:67589664-67589664 5:68293836-68293836
2 PIK3R1 NM_181523.3(PIK3R1):c.1425+2T>GSNV Pathogenic 446498 rs1554051075 5:67589664-67589664 5:68293836-68293836
3 PIK3R1 NM_181523.3(PIK3R1):c.1425+2_1425+3deldeletion Pathogenic 446499 rs1554051067 5:67589663-67589664 5:68293835-68293836
4 PIK3R1 NM_181523.3(PIK3R1):c.1300-1G>CSNV Pathogenic 446500 rs1554051033 5:67589536-67589536 5:68293708-68293708
5 PIK3R1 NM_181523.3(PIK3R1):c.965del (p.Met322fs)deletion Pathogenic 648899 5:67588135-67588135 5:68292307-68292307
6 PIK3R1 NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp)SNV Pathogenic 60763 rs397515453 5:67592129-67592129 5:68296301-68296301
7 PIK3R1 NM_181523.3(PIK3R1):c.1425+1G>TSNV Pathogenic 156008 rs587777709 5:67589663-67589663 5:68293835-68293835
8 PIK3R1 NM_181523.3(PIK3R1):c.1425+1G>CSNV Pathogenic 156009 rs587777709 5:67589663-67589663 5:68293835-68293835
9 PIK3R1 NM_181523.3(PIK3R1):c.1710dup (p.Ile571fs)duplication Pathogenic 571336 rs1561299903 5:67591115-67591116 5:68295287-68295288
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>ASNV Pathogenic/Likely pathogenic 372467 rs587777709 5:67589663-67589663 5:68293835-68293835
12 PIK3R1 NM_181523.3(PIK3R1):c.1300-2A>GSNV Likely pathogenic 827732 5:67589535-67589535 5:68293707-68293707
13 PIK3R1 NM_181523.3(PIK3R1):c.1185A>G (p.Pro395=)SNV Conflicting interpretations of pathogenicity 532024 rs149905863 5:67589197-67589197 5:68293369-68293369
14 PIK3R1 NM_181523.3(PIK3R1):c.611G>A (p.Ser204Asn)SNV Uncertain significance 568563 rs771919405 5:67575538-67575538 5:68279710-68279710
15 PIK3R1 NM_181523.3(PIK3R1):c.635-7C>GSNV Uncertain significance 578937 rs1561289181 5:67576349-67576349 5:68280521-68280521
16 PIK3R1 NM_181523.3(PIK3R1):c.649G>A (p.Glu217Lys)SNV Uncertain significance 576303 rs540361957 5:67576370-67576370 5:68280542-68280542
17 PIK3R1 NM_181523.3(PIK3R1):c.1019+6G>CSNV Uncertain significance 532022 rs749016701 5:67588195-67588195 5:68292367-68292367
18 PIK3R1 NM_181523.3(PIK3R1):c.961G>A (p.Gly321Ser)SNV Uncertain significance 463170 rs142439210 5:67588131-67588131 5:68292303-68292303
19 PIK3R1 NM_181523.3(PIK3R1):c.65T>C (p.Ile22Thr)SNV Uncertain significance 463166 rs150689648 5:67522568-67522568 5:68226740-68226740
20 PIK3R1 NM_181523.3(PIK3R1):c.202G>A (p.Asp68Asn)SNV Uncertain significance 463164 rs755043940 5:67522705-67522705 5:68226877-68226877
21 PIK3R1 NM_181523.3(PIK3R1):c.427+4A>CSNV Uncertain significance 642350 5:67569314-67569314 5:68273486-68273486
22 PIK3R1 NM_181523.3(PIK3R1):c.563G>A (p.Arg188His)SNV Uncertain significance 624051 rs148059720 5:67575490-67575490 5:68279662-68279662
23 PIK3R1 NM_181523.3(PIK3R1):c.917-1513G>TSNV Uncertain significance 625995 rs144312303 5:67586574-67586574 5:68290746-68290746
24 PIK3R1 NM_181523.3(PIK3R1):c.170A>G (p.Asn57Ser)SNV Uncertain significance 661141 5:67522673-67522673 5:68226845-68226845
25 PIK3R1 NM_181523.3(PIK3R1):c.554C>T (p.Ala185Val)SNV Uncertain significance 645272 5:67575481-67575481 5:68279653-68279653
26 PIK3R1 NM_181523.3(PIK3R1):c.716C>T (p.Thr239Met)SNV Uncertain significance 649231 5:67576437-67576437 5:68280609-68280609
27 PIK3R1 NM_181523.3(PIK3R1):c.251C>G (p.Pro84Arg)SNV Uncertain significance 846266 5:67522754-67522754 5:68226926-68226926
28 PIK3R1 NM_181523.3(PIK3R1):c.257C>T (p.Thr86Ile)SNV Uncertain significance 843492 5:67522760-67522760 5:68226932-68226932
29 PIK3R1 NM_181523.3(PIK3R1):c.332A>G (p.Gln111Arg)SNV Uncertain significance 853571 5:67522835-67522835 5:68227007-68227007
30 PIK3R1 NM_181523.3(PIK3R1):c.347C>T (p.Pro116Leu)SNV Uncertain significance 855460 5:67569230-67569230 5:68273402-68273402
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.485G>T (p.Arg162Leu)SNV Uncertain significance 857677 5:67569824-67569824 5:68273996-68273996
33 PIK3R1 NM_181523.3(PIK3R1):c.514G>A (p.Val172Met)SNV Uncertain significance 835242 5:67575441-67575441 5:68279613-68279613
34 PIK3R1 NM_181523.3(PIK3R1):c.676C>G (p.Leu226Val)SNV Uncertain significance 856837 5:67576397-67576397 5:68280569-68280569
35 PIK3R1 NM_181523.3(PIK3R1):c.686C>T (p.Ser229Leu)SNV Uncertain significance 855725 5:67576407-67576407 5:68280579-68280579
36 PIK3R1 NM_181523.3(PIK3R1):c.722A>T (p.Gln241Leu)SNV Uncertain significance 841166 5:67576443-67576443 5:68280615-68280615
37 PIK3R1 NM_181523.3(PIK3R1):c.747G>C (p.Lys249Asn)SNV Uncertain significance 863370 5:67576468-67576468 5:68280640-68280640
38 PIK3R1 NM_181523.3(PIK3R1):c.752C>T (p.Ser251Phe)SNV Uncertain significance 834213 5:67576473-67576473 5:68280645-68280645
39 PIK3R1 NM_181523.3(PIK3R1):c.1462A>G (p.Asn488Asp)SNV Uncertain significance 859537 5:67590400-67590400 5:68294572-68294572
40 PIK3R1 NM_181523.3(PIK3R1):c.1508G>T (p.Arg503Leu)SNV Uncertain significance 848444 5:67590446-67590446 5:68294618-68294618
41 PIK3R1 NM_181523.3(PIK3R1):c.1844A>T (p.Asp615Val)SNV Uncertain significance 849630 5:67592028-67592028 5:68296200-68296200
42 PIK3R1 NM_181523.3(PIK3R1):c.1921_1931del (p.Lys641fs)deletion Uncertain significance 861979 5:67592103-67592113 5:68296275-68296285
43 PIK3R1 NM_181523.3(PIK3R1):c.2168G>A (p.Arg723Lys)SNV Uncertain significance 847379 5:67593422-67593422 5:68297594-68297594
44 PIK3R1 NM_181523.3(PIK3R1):c.1300-10A>TSNV Uncertain significance 849969 5:67589527-67589527 5:68293699-68293699
45 PIK3R1 NM_181523.3(PIK3R1):c.504T>A (p.Asp168Glu)SNV Uncertain significance 575186 rs758929943 5:67575431-67575431 5:68279603-68279603
46 PIK3R1 NM_181523.3(PIK3R1):c.1300-10A>CSNV Likely benign 532025 rs377666209 5:67589527-67589527 5:68293699-68293699
47 PIK3R1 NM_181523.3(PIK3R1):c.1995C>T (p.Gly665=)SNV Likely benign 712888 5:67593249-67593249 5:68297421-68297421
48 PIK3R1 NM_181523.3(PIK3R1):c.1017G>A (p.Ser339=)SNV Likely benign 745674 5:67588187-67588187 5:68292359-68292359
49 PIK3R1 NM_181523.3(PIK3R1):c.1728G>A (p.Thr576=)SNV Likely benign 749951 5:67591135-67591135 5:68295307-68295307
50 PIK3R1 NM_181523.3(PIK3R1):c.1119-9T>CSNV Likely benign 747810 5:67589122-67589122 5:68293294-68293294

Expression for Immunodeficiency 36

Search GEO for disease gene expression data for Immunodeficiency 36.

Pathways for Immunodeficiency 36

GO Terms for Immunodeficiency 36

Sources for Immunodeficiency 36

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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