IMD22
MCID: IMM075
MIFTS: 25

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 56 73 29 6 71
Imd22 56 73
Severe Combined Immunodeficiency Due to Lymphocyte-Specific Protein Tyrosine Kinase Deficiency 58
Scid Due to Lymphocyte-Specific Protein Tyrosine Kinase Deficiency 58
Severe Combined Immunodeficiency Due to Lck Deficiency 58
Scid Due to Lck Deficiency 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:

56
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:

OMIM 56 615758
OMIM Phenotypic Series 56 PS300755
MeSH 43 D007153
ICD10 via Orphanet 33 D81.1
Orphanet 58 ORPHA280142
UMLS 71 C4014233

Summaries for Immunodeficiency 22

UniProtKB/Swiss-Prot : 73 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 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, skin and b cells, and related phenotypes are failure to thrive and recurrent respiratory infections

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 decreased proportion of cd4-positive t cells 31 HP:0005407
7 panniculitis 31 HP:0012490

Symptoms via clinical synopsis from OMIM:

56
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

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, Skin, B 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. 56 6
22985903 2012
2
Defect of lck in a patient with common variable immunodeficiency. 56
11351273 2001
3
Defective expression of p56lck in an infant with severe combined immunodeficiency. 56
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 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LCK NM_005356.5(LCK):c.1022T>C (p.Leu341Pro)SNV Pathogenic 127135 rs587777335 1:32745329-32745329 1:32279728-32279728
2 LCK NM_005356.5(LCK):c.1129dup (p.Ser377fs)duplication Likely pathogenic 804376 1:32745528-32745529 1:32279927-32279928
3 LCK NM_005356.5(LCK):c.559G>A (p.Asp187Asn)SNV Uncertain significance 474987 rs539280346 1:32741592-32741592 1:32275991-32275991
4 LCK NM_005356.5(LCK):c.803C>T (p.Thr268Met)SNV Uncertain significance 580430 rs1557585827 1:32742226-32742226 1:32276625-32276625
5 LCK NM_005356.5(LCK):c.632A>T (p.Asn211Ile)SNV Uncertain significance 569369 rs766580359 1:32741938-32741938 1:32276337-32276337
6 LCK NM_005356.5(LCK):c.851C>G (p.Ala284Gly)SNV Uncertain significance 571219 rs142611772 1:32742274-32742274 1:32276673-32276673
7 LCK NM_005356.5(LCK):c.90G>A (p.Leu30=)SNV Uncertain significance 649229 1:32740020-32740020 1:32274419-32274419
8 LCK NM_005356.5(LCK):c.252G>T (p.Lys84Asn)SNV Uncertain significance 657224 1:32740658-32740658 1:32275057-32275057
9 LCK NM_005356.5(LCK):c.896G>A (p.Arg299Gln)SNV Uncertain significance 661966 1:32742319-32742319 1:32276718-32276718
10 LCK NM_005356.5(LCK):c.1016A>G (p.Asn339Ser)SNV Uncertain significance 643389 1:32745323-32745323 1:32279722-32279722
11 LCK NM_005356.5(LCK):c.1382G>A (p.Arg461His)SNV Uncertain significance 665523 1:32751169-32751169 1:32285568-32285568
12 LCK NM_005356.5(LCK):c.1497G>A (p.Thr499=)SNV Likely benign 541833 rs375587756 1:32751284-32751284 1:32285683-32285683
13 LCK NM_005356.5(LCK):c.134G>A (p.Arg45Gln)SNV Benign 474985 rs145088108 1:32740366-32740366 1:32274765-32274765

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

73
# 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
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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