IMD22
MCID: IMM075
MIFTS: 26

Immunodeficiency 22 (IMD22)

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immunodeficiency 22

MalaCards integrated aliases for Immunodeficiency 22:

Name: Immunodeficiency 22 57 12 72 29 6 70
Imd22 57 12 72
Severe Combined Immunodeficiency Due to Lymphocyte-Specific Protein Tyrosine Kinase Deficiency 12 58
Scid Due to Lymphocyte-Specific Protein Tyrosine Kinase Deficiency 12 58
Severe Combined Immunodeficiency Due to Lck Deficiency 12 58
Scid Due to Lck Deficiency 12 58
Immunodeficiency, Type 22 39

Characteristics:

Orphanet epidemiological data:

58
severe combined immunodeficiency due to lck deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
one patient has been reported (last curated april 2014)


HPO:

31
immunodeficiency 22:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0111937
OMIM® 57 615758
OMIM Phenotypic Series 57 PS300755
MeSH 44 D007153
ICD10 via Orphanet 33 D81.1
Orphanet 58 ORPHA280142
UMLS 70 C4014233

Summaries for Immunodeficiency 22

Disease Ontology : 12 A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has material basis in homozygous or compound heterozygous mutation in LCK on chromosome 1p35.2.

MalaCards based summary : Immunodeficiency 22, is also known as imd22, and has symptoms including diarrhea An important gene associated with Immunodeficiency 22 is LCK (LCK Proto-Oncogene, Src Family Tyrosine Kinase). Affiliated tissues include t cells, and related phenotypes are failure to thrive and recurrent respiratory infections

UniProtKB/Swiss-Prot : 72 Immunodeficiency 22: A primary immunodeficiency characterized by T-cell dysfunction. Affected individuals present with lymphopenia, recurrent infections, severe diarrhea, and failure to thrive.

More information from OMIM: 615758 PS300755

Related Diseases for Immunodeficiency 22

Symptoms & Phenotypes for Immunodeficiency 22

Human phenotypes related to Immunodeficiency 22:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 recurrent respiratory infections 31 HP:0002205
3 immunodeficiency 31 HP:0002721
4 autoimmunity 31 HP:0002960
5 diarrhea 31 HP:0002014
6 panniculitis 31 HP:0012490
7 decreased proportion of cd4-positive helper t cells 31 HP:0005407

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

Abdomen Gastrointestinal:
diarrhea

Immunology:
autoimmune disorders
primary immunodeficiency
recurrent infections (bacterial, viral, fungal)
cd4+ t-cell lymphopenia
impaired signaling through the t-cell receptor

Respiratory:
recurrent respiratory infections

Muscle Soft Tissue:
panniculitis

Skin Nails Hair Skin:
nodular skin lesions

Clinical features from OMIM®:

615758 (Updated 05-Apr-2021)

UMLS symptoms related to Immunodeficiency 22:


diarrhea

Drugs & Therapeutics for Immunodeficiency 22

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 22

Genetic Tests for Immunodeficiency 22

Genetic tests related to Immunodeficiency 22:

# Genetic test Affiliating Genes
1 Immunodeficiency 22 29 LCK

Anatomical Context for Immunodeficiency 22

MalaCards organs/tissues related to Immunodeficiency 22:

40
T Cells

Publications for Immunodeficiency 22

Articles related to Immunodeficiency 22:

# Title Authors PMID Year
1
Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency. 6 57
22985903 2012
2
Defect of lck in a patient with common variable immunodeficiency. 57
11351273 2001
3
Defective expression of p56lck in an infant with severe combined immunodeficiency. 57
9664084 1998
4
Prevalence of Intestinal Parasitic Infection in Cancer, Organ Transplant and Primary Immunodeficiency Patients in Tehran, Iran 61
30803212 2019
5
Streptococcus anginosus Group Bacterial Infections. 61
28918832 2017
6
Primary immunodeficiencies in Switzerland: first report of the national registry in adults and children. 61
3065352 1988

Variations for Immunodeficiency 22

ClinVar genetic disease variations for Immunodeficiency 22:

6 (show all 49)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LCK NM_005356.5(LCK):c.1022T>C (p.Leu341Pro) SNV Pathogenic 127135 rs587777335 GRCh37: 1:32745329-32745329
GRCh38: 1:32279728-32279728
2 LCK NM_005356.5(LCK):c.1129dup (p.Ser377fs) Duplication Likely pathogenic 804376 rs1569967422 GRCh37: 1:32745528-32745529
GRCh38: 1:32279927-32279928
3 LCK NM_005356.5(LCK):c.601G>A (p.Gly201Ser) SNV Conflicting interpretations of pathogenicity 569666 rs11567841 GRCh37: 1:32741634-32741634
GRCh38: 1:32276033-32276033
4 LCK NM_005356.5(LCK):c.1016A>G (p.Asn339Ser) SNV Uncertain significance 643389 rs1258114778 GRCh37: 1:32745323-32745323
GRCh38: 1:32279722-32279722
5 LCK NM_005356.5(LCK):c.90G>A (p.Leu30=) SNV Uncertain significance 649229 rs747453202 GRCh37: 1:32740020-32740020
GRCh38: 1:32274419-32274419
6 LCK NM_005356.5(LCK):c.252G>T (p.Lys84Asn) SNV Uncertain significance 657224 rs1444115742 GRCh37: 1:32740658-32740658
GRCh38: 1:32275057-32275057
7 LCK NM_005356.5(LCK):c.896G>A (p.Arg299Gln) SNV Uncertain significance 661966 rs750936420 GRCh37: 1:32742319-32742319
GRCh38: 1:32276718-32276718
8 LCK NM_005356.5(LCK):c.1382G>A (p.Arg461His) SNV Uncertain significance 665523 rs763148386 GRCh37: 1:32751169-32751169
GRCh38: 1:32285568-32285568
9 LCK NM_005356.5(LCK):c.559G>A (p.Asp187Asn) SNV Uncertain significance 474987 rs539280346 GRCh37: 1:32741592-32741592
GRCh38: 1:32275991-32275991
10 LCK NM_005356.5(LCK):c.653C>T (p.Thr218Ile) SNV Uncertain significance 840308 GRCh37: 1:32741959-32741959
GRCh38: 1:32276358-32276358
11 LCK NM_005356.5(LCK):c.160T>G (p.Ser54Ala) SNV Uncertain significance 840790 GRCh37: 1:32740392-32740392
GRCh38: 1:32274791-32274791
12 LCK NM_005356.5(LCK):c.270C>G (p.Ile90Met) SNV Uncertain significance 845184 GRCh37: 1:32740676-32740676
GRCh38: 1:32275075-32275075
13 LCK NM_005356.5(LCK):c.1300G>T (p.Val434Phe) SNV Uncertain significance 848364 GRCh37: 1:32745784-32745784
GRCh38: 1:32280183-32280183
14 LCK NM_005356.5(LCK):c.214T>C (p.Tyr72His) SNV Uncertain significance 943695 GRCh37: 1:32740620-32740620
GRCh38: 1:32275019-32275019
15 LCK NM_005356.5(LCK):c.523G>A (p.Gly175Arg) SNV Uncertain significance 841635 GRCh37: 1:32741556-32741556
GRCh38: 1:32275955-32275955
16 LCK NM_005356.5(LCK):c.834C>T (p.Gly278=) SNV Uncertain significance 857785 GRCh37: 1:32742257-32742257
GRCh38: 1:32276656-32276656
17 LCK NM_005356.5(LCK):c.695C>T (p.Pro232Leu) SNV Uncertain significance 999434 GRCh37: 1:32742001-32742001
GRCh38: 1:32276400-32276400
18 LCK NM_005356.5(LCK):c.1405C>A (p.Leu469Met) SNV Uncertain significance 1003637 GRCh37: 1:32751192-32751192
GRCh38: 1:32285591-32285591
19 LCK NM_005356.5(LCK):c.803C>T (p.Thr268Met) SNV Uncertain significance 580430 rs1557585827 GRCh37: 1:32742226-32742226
GRCh38: 1:32276625-32276625
20 LCK NM_005356.5(LCK):c.1201A>T (p.Lys401Ter) SNV Uncertain significance 847660 GRCh37: 1:32745685-32745685
GRCh38: 1:32280084-32280084
21 LCK NM_005356.5(LCK):c.1190G>C (p.Arg397Thr) SNV Uncertain significance 855896 GRCh37: 1:32745590-32745590
GRCh38: 1:32279989-32279989
22 LCK NM_005356.5(LCK):c.355G>T (p.Ala119Ser) SNV Uncertain significance 935670 GRCh37: 1:32740998-32740998
GRCh38: 1:32275397-32275397
23 LCK NM_005356.5(LCK):c.1292C>T (p.Thr431Met) SNV Uncertain significance 1018077 GRCh37: 1:32745776-32745776
GRCh38: 1:32280175-32280175
24 LCK NM_005356.5(LCK):c.343T>C (p.Phe115Leu) SNV Uncertain significance 1021516 GRCh37: 1:32740986-32740986
GRCh38: 1:32275385-32275385
25 LCK NM_005356.5(LCK):c.437A>G (p.Asn146Ser) SNV Uncertain significance 1025318 GRCh37: 1:32741229-32741229
GRCh38: 1:32275628-32275628
26 LCK NM_005356.5(LCK):c.279-4G>T SNV Uncertain significance 844605 GRCh37: 1:32740918-32740918
GRCh38: 1:32275317-32275317
27 LCK NM_005356.5(LCK):c.1357C>G (p.Leu453Val) SNV Uncertain significance 848149 GRCh37: 1:32751144-32751144
GRCh38: 1:32285543-32285543
28 LCK NM_005356.5(LCK):c.851C>G (p.Ala284Gly) SNV Uncertain significance 571219 rs142611772 GRCh37: 1:32742274-32742274
GRCh38: 1:32276673-32276673
29 LCK NM_005356.5(LCK):c.1514A>G (p.Tyr505Cys) SNV Uncertain significance 1033244 GRCh37: 1:32751301-32751301
GRCh38: 1:32285700-32285700
30 LCK NM_005356.5(LCK):c.1501A>C (p.Thr501Pro) SNV Uncertain significance 1034906 GRCh37: 1:32751288-32751288
GRCh38: 1:32285687-32285687
31 LCK NM_005356.5(LCK):c.560A>G (p.Asp187Gly) SNV Uncertain significance 1036260 GRCh37: 1:32741593-32741593
GRCh38: 1:32275992-32275992
32 LCK NM_005356.5(LCK):c.415del (p.Arg139fs) Deletion Uncertain significance 1038789 GRCh37: 1:32741207-32741207
GRCh38: 1:32275606-32275606
33 LCK NM_005356.5(LCK):c.104C>T (p.Thr35Met) SNV Uncertain significance 1039527 GRCh37: 1:32740034-32740034
GRCh38: 1:32274433-32274433
34 LCK NM_005356.5(LCK):c.632A>T (p.Asn211Ile) SNV Uncertain significance 569369 rs766580359 GRCh37: 1:32741938-32741938
GRCh38: 1:32276337-32276337
35 LCK NM_005356.5(LCK):c.474C>T (p.Ser158=) SNV Likely benign 757286 rs1569954423 GRCh37: 1:32741266-32741266
GRCh38: 1:32275665-32275665
36 LCK NM_005356.5(LCK):c.600C>T (p.Pro200=) SNV Likely benign 761935 rs41264005 GRCh37: 1:32741633-32741633
GRCh38: 1:32276032-32276032
37 LCK NM_005356.5(LCK):c.1341G>A (p.Pro447=) SNV Likely benign 765935 rs777215464 GRCh37: 1:32751128-32751128
GRCh38: 1:32285527-32285527
38 LCK NM_005356.5(LCK):c.281G>A (p.Ser94Asn) SNV Likely benign 785762 rs142674647 GRCh37: 1:32740924-32740924
GRCh38: 1:32275323-32275323
39 LCK NM_005356.5(LCK):c.84C>A (p.Val28=) SNV Likely benign 797808 rs144437329 GRCh37: 1:32740014-32740014
GRCh38: 1:32274413-32274413
40 LCK NM_005356.5(LCK):c.785-5C>T SNV Likely benign 798021 rs746656319 GRCh37: 1:32742203-32742203
GRCh38: 1:32276602-32276602
41 LCK NM_005356.5(LCK):c.1195+4C>T SNV Likely benign 474984 rs142706318 GRCh37: 1:32745599-32745599
GRCh38: 1:32279998-32279998
42 LCK NM_005356.5(LCK):c.1497G>A (p.Thr499=) SNV Likely benign 541833 rs375587756 GRCh37: 1:32751284-32751284
GRCh38: 1:32285683-32285683
43 LCK NM_005356.5(LCK):c.141A>G (p.Pro47=) SNV Likely benign 717279 rs745339412 GRCh37: 1:32740373-32740373
GRCh38: 1:32274772-32274772
44 LCK NM_005356.5(LCK):c.528G>A (p.Glu176=) SNV Benign 726808 rs139568272 GRCh37: 1:32741561-32741561
GRCh38: 1:32275960-32275960
45 LCK NM_005356.5(LCK):c.1328-7C>T SNV Benign 541834 rs577301476 GRCh37: 1:32751108-32751108
GRCh38: 1:32285507-32285507
46 LCK NM_005356.5(LCK):c.888A>G (p.Gln296=) SNV Benign 541835 rs35029770 GRCh37: 1:32742311-32742311
GRCh38: 1:32276710-32276710
47 LCK NM_005356.5(LCK):c.161C>G (p.Ser54Cys) SNV Benign 541836 rs147431889 GRCh37: 1:32740393-32740393
GRCh38: 1:32274792-32274792
48 LCK NM_005356.5(LCK):c.134G>A (p.Arg45Gln) SNV Benign 474985 rs145088108 GRCh37: 1:32740366-32740366
GRCh38: 1:32274765-32274765
49 LCK NM_005356.5(LCK):c.171G>A (p.Pro57=) SNV Benign 474986 rs528967735 GRCh37: 1:32740403-32740403
GRCh38: 1:32274802-32274802

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 22:

72
# Symbol AA change Variation ID SNP ID
1 LCK p.Leu341Pro VAR_071291 rs587777335

Expression for Immunodeficiency 22

Search GEO for disease gene expression data for Immunodeficiency 22.

Pathways for Immunodeficiency 22

GO Terms for Immunodeficiency 22

Sources for Immunodeficiency 22

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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