Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation

General Information (adopted from Orphanet):

Synonyms, Signs: aplaid
Number of Symptoms 27
OrphanetNr: 324530
OMIM Id: 614878
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Mixed autoinflammatory and autoimmune syndrome
 -Rare systemic or rheumatologic disease

Symptom Information: Sort by abundance 

1
(HPO:0010697) Anterior pyramidal cataract 22 / 7739
2
(HPO:0100583) Corneal perforation 4 / 7739
3
(HPO:0200020) Corneal erosion rare [HPO:skoehler] 12 / 7739
4
(HPO:0000495) Recurrent corneal erosions 20 / 7739
5
(HPO:0000518) Cataract rare [HPO:skoehler] 454 / 7739
6
(HPO:0002829) Arthralgia 79 / 7739
7
(HPO:0100279) Ulcerative colitis rare [HPO:skoehler] 5 / 7739
8
(HPO:0010783) Erythema 138 / 7739
9
(HPO:0002850) IgM deficiency 18 / 7739
10
(HPO:0002720) IgA deficiency 33 / 7739
11
(HPO:0011950) Bronchiolitis 8 / 7739
12
(HPO:0005425) Recurrent sinopulmonary infections 10 / 7739
13
(HPO:0006515) Interstitial pneumonitis 13 / 7739
14
(HPO:0002719) Recurrent infections 107 / 7739
15
(HPO:0100658) Cellulitis 7 / 7739
16
(OMIM) Corneal blisters (1 patient) 1 / 7739
17
(HPO:0003593) Infantile onset 249 / 7739
18
(OMIM) Impaired B cell memory cells 1 / 7739
19
(OMIM) Respiratory bronchiolitis 1 / 7739
20
(OMIM) Erythematous plaques 1 / 7739
21
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
22
(OMIM) Decreased numbers of NK T cells 1 / 7739
23
(MedDRA:10015943) Eye inflammation 1 / 7739
24
(OMIM) Blistering skin lesions, recurrent 1 / 7739
25
(OMIM) Inflammatory infiltrate of neutrophils, lymphocytes, eosinophils, and histiocytes 1 / 7739
26
(OMIM) Lack of autoantibodies 1 / 7739
27
(OMIM) Vesiculopustular lesions 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Zhou et al. (2012) reported a father and daughter with a systemic autoinflammatory disorder characterized by early-onset recurrent blistering skin lesions, nonspecific interstitial pneumonitis with respiratory bronchiolitis (NSIP), arthralgia, eye inflammation, enterocolitis, cellulitis, and recurrent sinopulmonary infections. Both ...
Molecular genetics OMIM In a father and daughter with APLAID, Zhou et al. (2012) identified a heterozygous missense mutation in the PLCG2 gene (600220.0004). The mutation was identified by exome sequencing and was shown to result in a gain of function. ...