APLAID
MCID: ATN016
MIFTS: 25

Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated (APLAID)

Categories: Bone diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Autoinflammation, Antibody Deficiency, and Immune Dysregulation,...

MalaCards integrated aliases for Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated:

Name: Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated 58 30 6 41 74
Aplaid 58 60 76
Autoinflammation, Antibody Deficiency, and Immune Dysregulation Syndrome 58 13
Autoinflammation and Plcg2-Associated Antibody Deficiency and Immune Dysregulation 38
Autoinflammation, Antibody Deficiency, and Immune Dysregulation Plcg2-Associated 76
Autoinflammation-Plcg2-Associated Antibody Deficiency-Immune Dysregulation 60

Characteristics:

Orphanet epidemiological data:

60
autoinflammation-plcg2-associated antibody deficiency-immune dysregulation
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
one family has been reported (last curated october 2012)
skin lesions worsen with heat or sun exposure


HPO:

33
autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Autoinflammation, Antibody Deficiency, and Immune Dysregulation,...

OMIM : 58 Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) is an autosomal dominant systemic disorder characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract. Affected individuals have a mild humoral immune deficiency associated with recurrent sinopulmonary infections, but no evidence of circulating autoantibodies (summary by Zhou et al., 2012). (614878)

MalaCards based summary : Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated, also known as aplaid, is related to cutis laxa, and has symptoms including arthralgia An important gene associated with Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated is PLCG2 (Phospholipase C Gamma 2), and among its related pathways/superpathways is NF-kappa B signaling pathway. Affiliated tissues include skin, eye and bone, and related phenotypes are cataract and corneal erosion

UniProtKB/Swiss-Prot : 76 Autoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated: An autosomal dominant systemic disorder characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract. Affected individuals have a mild humoral immune deficiency associated with recurrent sinopulmonary infections, but no evidence of circulating autoantibodies.

Related Diseases for Autoinflammation, Antibody Deficiency, and Immune Dysregulation,...

Diseases related to Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cutis laxa 10.1

Symptoms & Phenotypes for Autoinflammation, Antibody Deficiency, and Immune Dysregulation,...

Human phenotypes related to Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 cataract 33 occasional (7.5%) HP:0000518
2 corneal erosion 33 occasional (7.5%) HP:0200020
3 ulcerative colitis 33 occasional (7.5%) HP:0100279
4 arthralgia 33 HP:0002829
5 erythema 33 HP:0010783
6 cellulitis 33 HP:0100658
7 interstitial pneumonitis 33 HP:0006515
8 immune dysregulation 33 HP:0002958
9 bronchiolitis 33 HP:0011950
10 decreased circulating iga level 33 HP:0002720
11 decreased circulating total igm 33 HP:0002850

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
cellulitis
blistering skin lesions, recurrent
erythematous plaques
vesiculopustular lesions

Skeletal:
arthralgias

Head And Neck Eyes:
cataracts (1 patient)
eye inflammation (1 patient)
corneal blisters (1 patient)
corneal erosions (1 patient)

Abdomen Gastrointestinal:
ulcerative colitis (1 patient)

Respiratory Lung:
interstitial pneumonitis
respiratory bronchiolitis

Immunology:
decreased igm
decreased iga
impaired b cell memory cells
lack of autoantibodies
decreased numbers of nk t cells

Respiratory:
sinopulmonary infections, recurrent

Skin Nails Hair Skin Histology:
inflammatory infiltrate of neutrophils, lymphocytes, eosinophils, and histiocytes

Clinical features from OMIM:

614878

UMLS symptoms related to Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated:


arthralgia

Drugs & Therapeutics for Autoinflammation, Antibody Deficiency, and Immune Dysregulation,...

Search Clinical Trials , NIH Clinical Center for Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated

Genetic Tests for Autoinflammation, Antibody Deficiency, and Immune Dysregulation,...

Genetic tests related to Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated:

# Genetic test Affiliating Genes
1 Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated 30 PLCG2

Anatomical Context for Autoinflammation, Antibody Deficiency, and Immune Dysregulation,...

MalaCards organs/tissues related to Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated:

42
Skin, Eye, Bone, Neutrophil, T Cells, B Cells

Publications for Autoinflammation, Antibody Deficiency, and Immune Dysregulation,...

Articles related to Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated:

# Title Authors Year
1
Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa. ( 30619256 )
2018

Variations for Autoinflammation, Antibody Deficiency, and Immune Dysregulation,...

UniProtKB/Swiss-Prot genetic disease variations for Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated:

76
# Symbol AA change Variation ID SNP ID
1 PLCG2 p.Ser707Tyr VAR_069211 rs397514562

ClinVar genetic disease variations for Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PLCG2 NM_002661.4(PLCG2): c.2120C> A (p.Ser707Tyr) single nucleotide variant Pathogenic rs397514562 GRCh37 Chromosome 16, 81953154: 81953154
2 PLCG2 NM_002661.4(PLCG2): c.2120C> A (p.Ser707Tyr) single nucleotide variant Pathogenic rs397514562 GRCh38 Chromosome 16, 81919549: 81919549

Expression for Autoinflammation, Antibody Deficiency, and Immune Dysregulation,...

Search GEO for disease gene expression data for Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated.

Pathways for Autoinflammation, Antibody Deficiency, and Immune Dysregulation,...

Pathways related to Autoinflammation, Antibody Deficiency, and Immune Dysregulation, Plcg2-Associated according to KEGG:

38
# Name Kegg Source Accession
1 NF-kappa B signaling pathway hsa04064

GO Terms for Autoinflammation, Antibody Deficiency, and Immune Dysregulation,...

Sources for Autoinflammation, Antibody Deficiency, and Immune Dysregulation,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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