Skip to main content

Table 2 A summary of the demographic and clinical features of IEI patients with pemphigoid blistering diseases

From: Novel PGM3 mutation in two siblings with combined immunodeficiency and childhood bullous pemphigoid: a case report and review of the literature

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

 

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

Ferguson et al. 2000 [14], McGinnes et al. 2006 [15]

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]

  1. A alive, AIHA autoimmune hemolytic anemia, CGD chronic granulomatous disease, CID combined immunodeficiency, CMV cytomegalovirus, CsA cyclosporine A, CVID common variable immunodeficiency, D dead, DIF direct immunofluorescence, EBV epstein-barr virus, F female, FOXP3 forkhead box protein P3, HIES hyper IgE syndrome, HSCT hematopoietic stem cell transplantation, Ig immunoglobulin, IVIg intravenous immunoglobulin, IL2RA interleukin-2 receptor alpha chain, IPEX immune dysregulation, polyendocrinopathy, enteropathy, X-linked, M male, MMF Mycophenolate mofetil, MTX methotrexate, NA not available, PID primary immunodeficiency disorder, RTI respiratory tract infection, STAT signal transducer and activator of transcription, TB tuberculosis, VZV Varicella zoster virus, ZAP70 zeta-chain-associated protein kinase 70