Information on HIES2
Basic details
Name: Hyper-IgE recurrent infection syndrome 2 | Acronym: HIES2
Alt. names: DOCK8 deficiency | Hyper-IgE syndrome 2
Gene: DOCK8 | MOI: Autosomal recessive | Mechanism of action: Loss of Function
No. of cases in DB: 31 | First reported in: 2009
Last updated on: 2023-02-28 16:41:18 by
Description
HIES syndrome caused by biallelic mutations in DOCK8. Individuals may also be at higher risk of oncologic complications, including lymphoma and squamous cell carcinomas.
Management
Antiinfectious prophylaxis and early and aggressive treatment of infections can be beneficial. Awareness and surveillance may be beneficial in order to allow early detection of oncologic complications and treatment. HSCT has been described.
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
31 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
101153 |
M | 210757 | 41 | German | PMID:34390440 [HIES55] | |||
| 101191 |
M | 212375 | 4 | Egypt | Egyptian | PMID:34390440 [HIES14] | ||
| 101195 |
F | 212379 | 4 | Egypt | Egyptian | PMID:34390440 [HIES19] | ||
| 101197 |
F | 214344 | 8 | Egypt | Egyptian | PMID:34390440 [HIES18] | ||
| 101580 |
M | 212601 | 14 | Iran | Iranian | PMID:34390440 [HIES17] | ||
| 101894 |
M | 212285 | Italy | Italian | PMID:34390440 [NEG049] | |||
| 101904 |
F | 212312 | United Kingdom | British | PMID:34390440 [HIES09] | |||
| 101982 |
F | 214072 | 15 | Omani | PMID:34390440 [HIES06] | |||
| 102031 |
M | 214221 | 15 | Iran | PMID:34390440 [HIES07] | |||
| 102036 |
U | 214243 | PMID:34390440 [NEG134] | |||||
| 102047 |
M | 214258 | 10 | Iran | PMID:34390440 [HIES13] | |||
| 102054 |
F | 214266 | 9 | Turkey | PMID:34390440 [HIES08] | |||
| 102055 |
F | 214273 | 7 | Iran | Iranian | PMID:34390440 [HIES22] | ||
| 102057 |
M | 214275 | 11 | Iran | Iranian | PMID:34390440 [HIES25] | ||
| 102065 |
M | 214285 | 10 | Egypt | Egyptian | PMID:34390440 [HIES23] | ||
| 102074 |
F | 214294 | 7 | Egypt | Egyptian | PMID:34390440 [HIES27]; PMID:32738296 [P2] | ||
| 102076 |
M | 214296 | 3 | Egypt | Egyptian | PMID:34390440 [HIES24] | ||
| 102077 |
F | 214297 | 6 | Egyptian | PMID:34390440 [HIES10] | |||
| 102082 |
U | 214302 | Egypt | Egyptian | PMID:34390440 [HIES11] | |||
| 102083 |
F | 214302 | 2 | Egypt | Egyptian | PMID:34390440 [NEG168] | ||
| 102084 |
M | 214303 | 4 | Egypt | Egyptian | PMID:34390440 [HIES02] | ||
| 102085 |
M | 214304 | 4 | Egypt | Egyptian | PMID:34390440 [HIES12] | ||
| 102107 |
M | 214329 | 7 | Portugal | Portuguese | PMID:34390440 [HIES26] | ||
| 102116 |
M | 212357 | 4 | Egyptian | PMID:34390440 [HIES05] | |||
| 102117 |
F | 214341 | 4 | Egypt | Egyptian | PMID:34390440 [HIES20] | ||
| 102119 |
M | 214343 | 5 | Egypt | Egyptian | PMID:34390440 [HIES15] | ||
| 102120 |
M | 214344 | 7 | Disputed | Egypt | Egyptian | PMID:34390440 [HIES21] | |
| 102121 |
M | 214345 | 6 | Egypt | Egyptian | PMID:34390440 [HIES16] | ||
| 102144 |
M | 214565 | 10 | Iranian | PMID:34390440 [HIES54] | |||
| 107151 |
M | 216364 |
16 | 4 | Definitive | Turkey | Turkish | PMID:39437980 [Fam.A:II.1(Patient 1)] |
| 107156 |
F | 216365 |
10 | 0 | Definitive | Turkey | Turkish | PMID:39437980 [Fam.B:II.2(Patient 2)] |
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Increased IgE levels |
25 (83.3%) | 1 (3.3%) | 4 (13.3%) |
| 2 | Eczema |
23 (76.7%) | 0 (0.0%) | 7 (23.3%) |
| 3 | Eosinophilia |
22 (73.3%) | 2 (6.7%) | 6 (20.0%) |
| 4 | (unusual) Respiratory tract infection |
18 (60.0%) | 0 (0.0%) | 12 (40.0%) |
| 5 | Lung disease |
17 (56.7%) | 0 (0.0%) | 13 (43.3%) |
| 6 | Pneumonia |
15 (50.0%) | 0 (0.0%) | 15 (50.0%) |
| 7 | Skin infections |
15 (50.0%) | 0 (0.0%) | 15 (50.0%) |
| 8 | Cutaneous abscess |
11 (36.7%) | 0 (0.0%) | 19 (63.3%) |
| 9 | Skin rash |
10 (33.3%) | 0 (0.0%) | 20 (66.7%) |
| 10 | Enteropathy |
9 (30.0%) | 0 (0.0%) | 21 (70.0%) |
| 11 | Diarrhea |
9 (30.0%) | 0 (0.0%) | 21 (70.0%) |
| 12 | (unusual) Viral infection |
8 (26.7%) | 0 (0.0%) | 22 (73.3%) |
| 13 | Sinusitis |
6 (20.0%) | 0 (0.0%) | 24 (80.0%) |
| 14 | Mucocutaneous candidiasis |
5 (16.7%) | 0 (0.0%) | 25 (83.3%) |
| 15 | Abnormal lymphoproliferation |
5 (16.7%) | 0 (0.0%) | 25 (83.3%) |
| 16 | Herpes Simplex Virus Infection |
5 (16.7%) | 0 (0.0%) | 25 (83.3%) |
| 17 | Atopy |
5 (16.7%) | 0 (0.0%) | 25 (83.3%) |
| 18 | Bronchiectasis |
4 (13.3%) | 1 (3.3%) | 25 (83.3%) |
| 19 | Warts |
4 (13.3%) | 0 (0.0%) | 26 (86.7%) |
| 20 | Otitis media |
3 (10.0%) | 0 (0.0%) | 27 (90.0%) |
| 21 | Hepatopathy |
3 (10.0%) | 0 (0.0%) | 27 (90.0%) |
| 22 | Decreased IgM levels |
3 (10.0%) | 0 (0.0%) | 27 (90.0%) |
| 23 | Splenomegaly |
3 (10.0%) | 0 (0.0%) | 27 (90.0%) |
| 24 | Suppurative Otitis Media |
3 (10.0%) | 0 (0.0%) | 27 (90.0%) |
| 25 | Allergy |
3 (10.0%) | 0 (0.0%) | 27 (90.0%) |
| 26 | Hepatomegaly |
3 (10.0%) | 0 (0.0%) | 27 (90.0%) |
| 27 | Reduced T cell count |
3 (10.0%) | 0 (0.0%) | 27 (90.0%) |
| 28 | Failure to thrive |
3 (10.0%) | 0 (0.0%) | 27 (90.0%) |
| 29 | Hypogammaglobulinemia |
3 (10.0%) | 0 (0.0%) | 27 (90.0%) |
| 30 | Reduced proportion of CD4 T cells |
3 (10.0%) | 0 (0.0%) | 27 (90.0%) |
| 31 | Retained primary teeth |
3 (10.0%) | 0 (0.0%) | 27 (90.0%) |
| 32 | Atopic dermatitis |
2 (6.7%) | 0 (0.0%) | 28 (93.3%) |
| 33 | Recurrent upper respiratory tract infection |
2 (6.7%) | 0 (0.0%) | 28 (93.3%) |
| 34 | Cow milk allergy |
2 (6.7%) | 0 (0.0%) | 28 (93.3%) |
| 35 | Reduced proportion of naive CD4 T cells |
2 (6.7%) | 0 (0.0%) | 28 (93.3%) |
| 36 | Food allergy |
2 (6.7%) | 0 (0.0%) | 28 (93.3%) |
| 37 | Candida Onychomycosis |
2 (6.7%) | 0 (0.0%) | 28 (93.3%) |
| 38 | Asthma |
2 (6.7%) | 0 (0.0%) | 28 (93.3%) |
| 39 | Reduced proportion of naive CD8 T cells |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 40 | Decreased proportion of switched memory B cells |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 41 | Erythematous plaque |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 42 | Abscess |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 43 | Decreased IgA levels |
1 (3.3%) | 1 (3.3%) | 28 (93.3%) |
| 44 | Chronic otitis media |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 45 | Seizures |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 46 | Recurrent lower respiratory tract infections |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 47 | B-cell lymphoma |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 48 | Lymphadenopathy |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 49 | Recurrent upper and lower respiratory tract infections |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 50 | House dust mite allergy |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 51 | Egg allergy |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 52 | Nut food product allergy |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 53 | Increased proportion of CD8+ TEMRA T cells |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 54 | Lymphopenia |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 55 | (Unusual) bacterial infection |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 56 | Bacterial meningitis |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 57 | Pruritus |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 58 | Esophageal candidiasis |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 59 | Neoplasm of the skin |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 60 | Varicella zoster virus infection |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 61 | Maculopapular exanthema |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 62 | Non-Hodgkin lymphoma |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 63 | Onychomycosis |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 64 | Herpes labialis, recurrent |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 65 | Reduced ab-response to pneumococcal polysaccharide vaccine |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 66 | Increased IgG level |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 67 | Cervical lymphadenopathy |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 68 | Infective Arthritis |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 69 | Ascites |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 70 | Headaches |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 71 | Liver abscess |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 72 | Actinic keratosis |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 73 | Seborrheic keratosis |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 74 | Hypertension |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 75 | Increased proportion of effector mem. CD4 T cells |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 76 | Mastoiditis |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 77 | Pyoderma |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 78 | High palate |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 79 | Facial dysmorphism |
1 (3.3%) | 0 (0.0%) | 29 (96.7%) |
| 80 | Decreased IgG levels |
0 (0.0%) | 1 (3.3%) | 29 (96.7%) |
| 81 | Pneumatocele |
0 (0.0%) | 1 (3.3%) | 29 (96.7%) |
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.