Patient | Type of PIDs (Mutated gene) | Type of blistering disorder | Age (years) | Sex | Parental consanguinity | Origin | The onset of skin disorder (years) | Blister involvement | DIF | Other comorbidities | Treatment | D/A | References |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | CID (PGM3) | Bullous pemphigoid | 2.7 | M | Yes | Afghanistan | 2.2 | Face, trunk, extremities | IgG, C3 | FTT, enteropathy, allergy, recurrent otitis media with tympanic membrane perforation, recurrent oral candidiasis, hair loss, koilonychia | Prednisolone, azathioprine | D | This report, 2022 |
2 | CID (PGM3) | Bullous pemphigoid | 1.0 | F | Yes | Afghanistan | NA | Face, trunk, extremities | IgG, C3 | Food allergy, eczema, FTT, Recurrent oral candidiasis, RTI, recurrent oral candidiasis | IVIg | A | This report, 2022 |
3 | IPEX (FOXP3) | Bullous pemphigoid | 7.0 | M | No | Denmark | 2.0 | Face, extremities, gluteal region | IgG | FTT, Lymphoid interstitial pneumonia | Prednisolone, Azathioprine, MMF, CsA | A | Anderson et al. 2021 |
4 | IPEX (FOXP3) | Pemphigoid nodularis | 23.0 | NA | NA | USA | NA | NA | NA | Recurrent RTI, Enteropathy, Eczema/psoriasis, Thyroiditis, Nephropathy, Hypogammaglobulinemia | Immunosuppressive, IVIg, HSCT | NA | Rosenberg et al. 2018 [13] |
5 | CVID (NA) | Mucous membrane pemphigoid | 73.0 | F | NA | USA | 72.2 | Oral mucosa | IgG, C3 | No | Topical dexamethasone | A | Doll et al., 2017 [21] |
6 | ZAP70 Deficiency (ZAP70) | Bullous pemphigoid | 2.0 | M | No | USA | 1.6 | Face, trunk, extremities, oral mucosa | IgG | Inflammatory colitis, Hemophilia, Nephrotic Syndrome | HSCT | A | Chan et al., 2016 [20] |
7 | ZAP70 Deficiency (ZAP70) | Bullous pemphigoid | 0.2 | F | No | USA | 0.1 | Face, trunk, extremities | IgG | Growth failure, Inflammatory colitis, Proteinuria, autoimmune thyroiditis | HSCT | A | Chan et al., 2016 [20] |
8 | HIES (STAT3) | Bullous pemphigoid | 30.0 | F | NA | Indonesia | 4.0 | Entire body | NA | Esophagus stricture, Recurrent RTI, Lung TB, Alopecia, Hair loss, Anonychia, Anemia, Malnutrition | Prednisolone, Topical antibiotics | A | Budiyani et al. 2016 [18] |
9 | IPEX-like syndrome (CD25/IL2RA) | Bullous pemphigoid | 8.0 | F | Yes | Italy | 1.0 | NA | NA | Autoimmune enteropathy, CMV infection, Diffuse eczema, Autoimmune thyroiditis, Alopecia universalis, Lymphadenopathies | Plasmapheresis | A | Goudy et al. 2013 [16] |
10 | IPEX-like syndrome (NA) | Bullous pemphigoid | 7.0 | NA | NA | Italy | NA | NA | NA | Arthritis, AIHA, Autoimmune hepatitis, Enteropathy | Steroids, Rituximab, MMF, cyclophosphamide | NA | Barzaghi et al. 2012 [17] |
11 | HIES (NA) | Bullous pemphigoid | 0.5 | M | No | Turkey | 0.2 | Face, trunk, extremities, oral mucosa | IgG | Recurrent RTI, Recurrent oral thrush, Otitis, Severe eczema | Prednisolone, Antibiotics | A | Erbagci et al. 2008 [19] |
12 | CVID | IgA mucous membrane pemphigoid | 46.0 | F | NA | Canada | 45.3 | Conjunctiva | IgA | Eye disorder, meningioma, atrial myxoma | Dapsone, IVIG | Â | Suwattee et al. 2004 |
13 | IPEX (FOXP3) | Bullous pemphigoid, pemphigoid nodularis | 14.0 | M | No | USA | 0.1 | Face, trunk, extremities | IgG, C3 | Autoimmune enteropathy, Recurrent RTI, Abscess, Asthma, growth failure, VZV and EBV infection | Prednisolone, CsA, Dapsone, Azathioprine, MTX, Hydroxyzine, SSRI, Topical tacrolimus, IVIg, Antibiotics, Rituximab | A | |
14 | NA | Juvenile pemphigoid | 0.8 | F | NA | UK | 0.7 | Face, trunk, extremities | IgG | Thymic hypoplasia, AIHA, T lymphopenia | Prednisolone, sulphapyridine | D | Bloomfield et al. 1982 [12] |