MCID: IMM075
MIFTS: 20

Immunodeficiency 22

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

Aliases & Classifications for Immunodeficiency 22

MalaCards integrated aliases for Immunodeficiency 22:

Name: Immunodeficiency 22 57 75 29 6 73
Scid Due to Lck Deficiency 59 13
Imd22 57 75
Severe Combined Immunodeficiency Due to Lymphocyte-Specific Protein Tyrosine Kinase Deficiency 59
Scid Due to Lymphocyte-Specific Protein Tyrosine Kinase Deficiency 59
Severe Combined Immunodeficiency Due to Lck Deficiency 59
Immunodeficiency, Type 22 40

Characteristics:

Orphanet epidemiological data:

59
severe combined immunodeficiency due to lck deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
immunodeficiency 22:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615758
Orphanet 59 ORPHA280142
ICD10 via Orphanet 34 D81.1
MeSH 44 D007153
UMLS 73 C4014233

Summaries for Immunodeficiency 22

UniProtKB/Swiss-Prot : 75 Immunodeficiency 22: A primary immunodeficiency characterized by T-cell dysfunction. Affected individuals present with lymphopenia, recurrent infections, severe diarrhea, and failure to thrive.

MalaCards based summary : Immunodeficiency 22, is also known as scid due to lck deficiency, 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, skin and b cells, and related phenotypes are failure to thrive and recurrent respiratory infections

Description from OMIM: 615758

Related Diseases for Immunodeficiency 22

Symptoms & Phenotypes for Immunodeficiency 22

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Immunodeficiency 22:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 recurrent respiratory infections 32 HP:0002205
3 immunodeficiency 32 HP:0002721
4 autoimmunity 32 HP:0002960
5 diarrhea 32 HP:0002014
6 panniculitis 32 HP:0012490

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:

41
T Cells, Skin, B Cells

Publications for Immunodeficiency 22

Variations for Immunodeficiency 22

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

75
# Symbol AA change Variation ID SNP ID
1 LCK p.Leu341Pro VAR_071291 rs587777335

ClinVar genetic disease variations for Immunodeficiency 22:

6
(show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 LCK NM_005356.4(LCK): c.1022T> C (p.Leu341Pro) single nucleotide variant Pathogenic rs587777335 GRCh37 Chromosome 1, 32745329: 32745329
2 LCK NM_005356.4(LCK): c.1022T> C (p.Leu341Pro) single nucleotide variant Pathogenic rs587777335 GRCh38 Chromosome 1, 32279728: 32279728
3 LCK NM_001042771.2(LCK): c.134G> A (p.Arg45Gln) single nucleotide variant Benign rs145088108 GRCh38 Chromosome 1, 32274765: 32274765
4 LCK NM_001042771.2(LCK): c.134G> A (p.Arg45Gln) single nucleotide variant Benign rs145088108 GRCh37 Chromosome 1, 32740366: 32740366
5 LCK NM_001042771.2(LCK): c.1195+4C> T single nucleotide variant Likely benign rs142706318 GRCh37 Chromosome 1, 32745599: 32745599
6 LCK NM_001042771.2(LCK): c.1195+4C> T single nucleotide variant Likely benign rs142706318 GRCh38 Chromosome 1, 32279998: 32279998
7 LCK NM_001042771.2(LCK): c.171G> A (p.Pro57=) single nucleotide variant Benign rs528967735 GRCh37 Chromosome 1, 32740403: 32740403
8 LCK NM_001042771.2(LCK): c.171G> A (p.Pro57=) single nucleotide variant Benign rs528967735 GRCh38 Chromosome 1, 32274802: 32274802
9 LCK NM_001042771.2(LCK): c.559G> A (p.Asp187Asn) single nucleotide variant Uncertain significance rs539280346 GRCh37 Chromosome 1, 32741592: 32741592
10 LCK NM_001042771.2(LCK): c.559G> A (p.Asp187Asn) single nucleotide variant Uncertain significance rs539280346 GRCh38 Chromosome 1, 32275991: 32275991
11 LCK NM_001042771.2(LCK): c.161C> G (p.Ser54Cys) single nucleotide variant Benign rs147431889 GRCh38 Chromosome 1, 32274792: 32274792
12 LCK NM_001042771.2(LCK): c.161C> G (p.Ser54Cys) single nucleotide variant Benign rs147431889 GRCh37 Chromosome 1, 32740393: 32740393
13 LCK NM_001042771.2(LCK): c.1497G> A (p.Thr499=) single nucleotide variant Likely benign rs375587756 GRCh38 Chromosome 1, 32285683: 32285683
14 LCK NM_001042771.2(LCK): c.1497G> A (p.Thr499=) single nucleotide variant Likely benign rs375587756 GRCh37 Chromosome 1, 32751284: 32751284
15 LCK NM_001042771.2(LCK): c.84C> T (p.Val28=) single nucleotide variant Likely benign rs144437329 GRCh37 Chromosome 1, 32740014: 32740014
16 LCK NM_001042771.2(LCK): c.84C> T (p.Val28=) single nucleotide variant Likely benign rs144437329 GRCh38 Chromosome 1, 32274413: 32274413
17 LCK NM_001042771.2(LCK): c.888A> G (p.Gln296=) single nucleotide variant Benign rs35029770 GRCh37 Chromosome 1, 32742311: 32742311
18 LCK NM_001042771.2(LCK): c.888A> G (p.Gln296=) single nucleotide variant Benign rs35029770 GRCh38 Chromosome 1, 32276710: 32276710
19 LCK NM_001042771.2(LCK): c.1328-7C> T single nucleotide variant Benign rs577301476 GRCh37 Chromosome 1, 32751108: 32751108
20 LCK NM_001042771.2(LCK): c.1328-7C> T single nucleotide variant Benign rs577301476 GRCh38 Chromosome 1, 32285507: 32285507

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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