MCID: IMM088
MIFTS: 18

Immunodeficiency 36

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 36

MalaCards integrated aliases for Immunodeficiency 36:

Name: Immunodeficiency 36 57 75 29 6 73
Imd36 57 75
Immunodeficiency, Type 36 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
immunodeficiency 36:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 616005
MeSH 44 D007153
UMLS 73 C4014934

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)

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 recurrent respiratory infections and immunodeficiency

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
AbdomenSpleen:
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

Human phenotypes related to Immunodeficiency 36:

32
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 32 HP:0002205
2 immunodeficiency 32 HP:0002721
3 decreased antibody level in blood 32 HP:0004313
4 recurrent bacterial infections 32 HP:0002718

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:

41
B Cells, T Cells

Publications for Immunodeficiency 36

Variations for Immunodeficiency 36

ClinVar genetic disease variations for Immunodeficiency 36:

6
(show all 48)
# Gene Variation Type Significance SNP ID Assembly Location
1 PIK3R1 NM_181523.2(PIK3R1): c.1945C> T (p.Arg649Trp) single nucleotide variant Pathogenic rs397515453 GRCh37 Chromosome 5, 67592129: 67592129
2 PIK3R1 NM_181523.2(PIK3R1): c.1945C> T (p.Arg649Trp) single nucleotide variant Pathogenic rs397515453 GRCh38 Chromosome 5, 68296301: 68296301
3 PIK3R1 NM_181523.2(PIK3R1): c.1425+1G> T single nucleotide variant Pathogenic rs587777709 GRCh38 Chromosome 5, 68293835: 68293835
4 PIK3R1 NM_181523.2(PIK3R1): c.1425+1G> T single nucleotide variant Pathogenic rs587777709 GRCh37 Chromosome 5, 67589663: 67589663
5 PIK3R1 NM_181523.2(PIK3R1): c.1425+1G> C single nucleotide variant Pathogenic rs587777709 GRCh38 Chromosome 5, 68293835: 68293835
6 PIK3R1 NM_181523.2(PIK3R1): c.1425+1G> C single nucleotide variant Pathogenic rs587777709 GRCh37 Chromosome 5, 67589663: 67589663
7 PIK3R1 NM_181523.2(PIK3R1): c.621T> C (p.Ile207=) single nucleotide variant Benign/Likely benign rs61749601 GRCh37 Chromosome 5, 67575548: 67575548
8 PIK3R1 NM_181523.2(PIK3R1): c.621T> C (p.Ile207=) single nucleotide variant Benign/Likely benign rs61749601 GRCh38 Chromosome 5, 68279720: 68279720
9 PIK3R1 NM_181523.2(PIK3R1): c.1176C> T (p.Phe392=) single nucleotide variant Benign/Likely benign rs3730090 GRCh37 Chromosome 5, 67589188: 67589188
10 PIK3R1 NM_181523.2(PIK3R1): c.1176C> T (p.Phe392=) single nucleotide variant Benign/Likely benign rs3730090 GRCh38 Chromosome 5, 68293360: 68293360
11 PIK3R1 NM_181523.2(PIK3R1): c.2109T> C (p.Leu703=) single nucleotide variant Benign/Likely benign rs3729981 GRCh37 Chromosome 5, 67593363: 67593363
12 PIK3R1 NM_181523.2(PIK3R1): c.2109T> C (p.Leu703=) single nucleotide variant Benign/Likely benign rs3729981 GRCh38 Chromosome 5, 68297535: 68297535
13 PIK3R1 NM_181523.2(PIK3R1): c.1425+1G> A single nucleotide variant Pathogenic rs587777709 GRCh37 Chromosome 5, 67589663: 67589663
14 PIK3R1 NM_181523.2(PIK3R1): c.1425+1G> A single nucleotide variant Pathogenic rs587777709 GRCh38 Chromosome 5, 68293835: 68293835
15 PIK3R1 NM_181523.2(PIK3R1): c.634+8T> C single nucleotide variant Likely benign rs368138177 GRCh37 Chromosome 5, 67575569: 67575569
16 PIK3R1 NM_181523.2(PIK3R1): c.634+8T> C single nucleotide variant Likely benign rs368138177 GRCh38 Chromosome 5, 68279741: 68279741
17 PIK3R1 NM_181523.2(PIK3R1): c.1425+2T> A single nucleotide variant Pathogenic GRCh37 Chromosome 5, 67589664: 67589664
18 PIK3R1 NM_181523.2(PIK3R1): c.1425+2T> A single nucleotide variant Pathogenic GRCh38 Chromosome 5, 68293836: 68293836
19 PIK3R1 NM_181523.2(PIK3R1): c.1425+2T> G single nucleotide variant Pathogenic GRCh38 Chromosome 5, 68293836: 68293836
20 PIK3R1 NM_181523.2(PIK3R1): c.1425+2T> G single nucleotide variant Pathogenic GRCh37 Chromosome 5, 67589664: 67589664
21 PIK3R1 NM_181523.2(PIK3R1): c.1425+2_1425+3del deletion Pathogenic GRCh38 Chromosome 5, 68293836: 68293837
22 PIK3R1 NM_181523.2(PIK3R1): c.1425+2_1425+3del deletion Pathogenic GRCh37 Chromosome 5, 67589664: 67589665
23 PIK3R1 NM_181523.2(PIK3R1): c.1300-1G> C single nucleotide variant Pathogenic GRCh37 Chromosome 5, 67589536: 67589536
24 PIK3R1 NM_181523.2(PIK3R1): c.1300-1G> C single nucleotide variant Pathogenic GRCh38 Chromosome 5, 68293708: 68293708
25 PIK3R1 NM_181523.2(PIK3R1): c.837-7C> T single nucleotide variant Benign rs571365105 GRCh37 Chromosome 5, 67576748: 67576748
26 PIK3R1 NM_181523.2(PIK3R1): c.837-7C> T single nucleotide variant Benign rs571365105 GRCh38 Chromosome 5, 68280920: 68280920
27 PIK3R1 NM_181523.2(PIK3R1): c.571C> T (p.Leu191=) single nucleotide variant Benign rs533077843 GRCh37 Chromosome 5, 67575498: 67575498
28 PIK3R1 NM_181523.2(PIK3R1): c.571C> T (p.Leu191=) single nucleotide variant Benign rs533077843 GRCh38 Chromosome 5, 68279670: 68279670
29 PIK3R1 NM_181523.2(PIK3R1): c.961G> A (p.Gly321Ser) single nucleotide variant Uncertain significance rs142439210 GRCh37 Chromosome 5, 67588131: 67588131
30 PIK3R1 NM_181523.2(PIK3R1): c.961G> A (p.Gly321Ser) single nucleotide variant Uncertain significance rs142439210 GRCh38 Chromosome 5, 68292303: 68292303
31 PIK3R1 NM_181523.2(PIK3R1): c.65T> C (p.Ile22Thr) single nucleotide variant Uncertain significance rs150689648 GRCh37 Chromosome 5, 67522568: 67522568
32 PIK3R1 NM_181523.2(PIK3R1): c.65T> C (p.Ile22Thr) single nucleotide variant Uncertain significance rs150689648 GRCh38 Chromosome 5, 68226740: 68226740
33 PIK3R1 NM_181523.2(PIK3R1): c.202G> A (p.Asp68Asn) single nucleotide variant Uncertain significance rs755043940 GRCh37 Chromosome 5, 67522705: 67522705
34 PIK3R1 NM_181523.2(PIK3R1): c.202G> A (p.Asp68Asn) single nucleotide variant Uncertain significance rs755043940 GRCh38 Chromosome 5, 68226877: 68226877
35 PIK3R1 NM_181523.2(PIK3R1): c.687G> A (p.Ser229=) single nucleotide variant Benign rs34175949 GRCh37 Chromosome 5, 67576408: 67576408
36 PIK3R1 NM_181523.2(PIK3R1): c.687G> A (p.Ser229=) single nucleotide variant Benign rs34175949 GRCh38 Chromosome 5, 68280580: 68280580
37 PIK3R1 NM_181523.2(PIK3R1): c.195A> G (p.Glu65=) single nucleotide variant Benign rs73768883 GRCh37 Chromosome 5, 67522698: 67522698
38 PIK3R1 NM_181523.2(PIK3R1): c.195A> G (p.Glu65=) single nucleotide variant Benign rs73768883 GRCh38 Chromosome 5, 68226870: 68226870
39 PIK3R1 NM_181523.2(PIK3R1): c.1300-10A> C single nucleotide variant Likely benign rs377666209 GRCh38 Chromosome 5, 68293699: 68293699
40 PIK3R1 NM_181523.2(PIK3R1): c.1300-10A> C single nucleotide variant Likely benign rs377666209 GRCh37 Chromosome 5, 67589527: 67589527
41 PIK3R1 NM_181523.2(PIK3R1): c.1019+6G> C single nucleotide variant Uncertain significance rs749016701 GRCh37 Chromosome 5, 67588195: 67588195
42 PIK3R1 NM_181523.2(PIK3R1): c.1019+6G> C single nucleotide variant Uncertain significance rs749016701 GRCh38 Chromosome 5, 68292367: 68292367
43 PIK3R1 NM_181523.2(PIK3R1): c.1020-3C> T single nucleotide variant Uncertain significance rs200653607 GRCh37 Chromosome 5, 67588926: 67588926
44 PIK3R1 NM_181523.2(PIK3R1): c.1020-3C> T single nucleotide variant Uncertain significance rs200653607 GRCh38 Chromosome 5, 68293098: 68293098
45 PIK3R1 NM_181523.2(PIK3R1): c.1396T> C (p.Leu466=) single nucleotide variant Likely benign rs754454562 GRCh37 Chromosome 5, 67589633: 67589633
46 PIK3R1 NM_181523.2(PIK3R1): c.1396T> C (p.Leu466=) single nucleotide variant Likely benign rs754454562 GRCh38 Chromosome 5, 68293805: 68293805
47 PIK3R1 NM_181523.2(PIK3R1): c.1185A> G (p.Pro395=) single nucleotide variant Likely benign rs149905863 GRCh37 Chromosome 5, 67589197: 67589197
48 PIK3R1 NM_181523.2(PIK3R1): c.1185A> G (p.Pro395=) single nucleotide variant Likely benign rs149905863 GRCh38 Chromosome 5, 68293369: 68293369

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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