Table 2.
Immunological symptoms and comorbidities of 14 patients with 11q disorders
| P | Age | IgRT | Viral infections | Bacterial infections | Eczema | Warts | Mycosis | Comorbidities |
|---|---|---|---|---|---|---|---|---|
| On immunoglobulin replacement therapy (IgRT) | ||||||||
| 1 | 40 | Yes |
Frequent prolonged viral upper respiratory infections (URTI); frequent ear-nose-throat infections (ENTI) requiring tubes; varicella-zoster virus infection (VZV): caregiver does not recall |
Frequent oral antibiotics; paronychia requiring drainage | None | Multiple on hands and feet, needing. Gardasil | None |
Increased bleeding tendency; asymmetric aortic valve; eyelid surgery; Hearing aids; lymphangiodysplasia of lower legs; moderate developmental delay |
| 2 | 10 | Since age of 6 |
Frequent URTI; frequent ENTI requiring tubes; frequent rehydration after URTI and gastro-intestinal (GI) infections; Severe VZV |
Frequent oral antibiotics; paronychia requiring drainage; bacterial superinfection of the skin during VZV requiring local and iv AB |
None | None | Fungal nails and vaginal mycosis, chronic use of anti-mucosal treatment |
Increased bleeding tendency; craniosynostosis repairment; eyelid surgery; Type 1 diabetes mellitus (11y); moderate-severe developmental delay |
| 3 | 7 | Yes |
Frequent URTI and ENTI; viral bronchitis and BHR requiring hospitalization for salbutamol and oxygen; mild-moderate VZV |
Frequent oral antibiotics and prophylaxis until age of 6y | None | None | None |
Increased bleeding tendency; large VSD; Eyelid surgery; Nissen surgery for reflux disease (GERD); moderate-severe developmental delay |
| 7 | 15 | Since age of 10y |
Frequent URTI; frequent ENTI requiring tubes; Severe H1N1 influenza in 2009, needing Tamiflu; recurrent hospitalization for dehydration due to GI-infections; moderate VZV |
Frequent AB; Hospitalization for sepsis* (occurred under IgRT) |
None | None | None |
Increased bleeding tendency; large VSD; Craniosynostosis repairment; eye lid surgery; severe GERD; celiac disease; severe developmental delay. epilepsy; sudden death (16y) |
| 11 | 16 | Since age of 5y |
Frequent URTI and ENTI; severe RSV and parainfluenza infection requiring oxygen. BHR, needing salbutamol and ICS; hospitalization for dehydration due to rotavirus; severe VZV |
Frequent AB and prophylaxis; once iv for LRTI. Paronychia requiring topical AB. Balanitis, requiring circumcision; bacterial superinfection of the skin during VZV |
Chronic, resolved under IgRT | None | Pityriasus rosacea, fungal nails needing oral terbinafin | Increased bleeding tendency; left pulmonary artery stenosis; mild developmental delay |
| 14 | 18 | Since age of 14y |
Frequent URTI; frequent ENTI requiring tubes; frequent oral aphthous stomatitis; severe VZV |
Frequent AB; bacterial superinfection of the skin during VZV requiring AB |
Chronic, resolved under IgRT | One persistent on toe | Topical ketoconazole for frequent diaper dermatitis |
Increased bleeding tendency; congenital hip dysplasia; moderate-severe developmental delay |
| Not on immunoglobulin replacement therapy | ||||||||
| 4 | 1 | No | No prolonged or complicated viral infections | No infections | None | None | None |
Increased bleeding tendency; multiple VSDs; Feeding difficulties; mild developmental delay |
| 5 | 0 | No | No prolonged or complicated viral infections | No infections | None | None | None | Increased bleeding tendency; craniosynostosis repairment; normal development |
| 6 | 4 | No |
Frequent URTI; dehydration due to GI-infections; Severe VZV |
Bacterial superinfection of the skin during VZV | Chronic in hair, axillary regions and umbilical area | None | Skin fungal dermatitis, needing miconazole |
Increased bleeding tendency; strabismus; benign hydrocephalus; mild speech delay |
| 8 | 4 | No |
Frequent URTI; frequent ENTI requiring tubes; moderate-severe VZV |
Frequent AB and prophylaxis | Moderate | None | Chronically affected, between toes, needing miconazole | Increased bleeding tendency; normal development |
| 9 | 8 | No |
Frequent URTI frequent ENTI requiring tubes; BHR, requiring salbutamol; once hospitalized for oxygen replacement during viral LRTI. Severe VZV |
Frequent AB; bacterial superinfection of the skin during VZV requiring AB |
Chronic | Chronically affected toe-nails | None |
Normal bleeding tendency; variant HLHS; ADHD; mild developmental delay |
| 10 | 22 | No |
Frequent URTI and ENTI; BHR requiring salbutamol; once hospitalization for LRTI Moderate VZV |
Frequent AB | Frequent seborrheic eczema around ears and in hair | None | None |
Increased bleeding tendency; ASD, VSD, MS, ODB, and pulmonary hypertension Hearing aids; fever-related convulsions Moderate developmental delay |
| 12 | 6 | No |
Frequent URTI; Frequent ENTI requiring tubes; BHR requiring salbutamol; Severe pseudocroup requiring epinephrin; severe picornavirus and rhinovirus; no VZV |
Frequent AB and AB prophylaxis | Yes | None | None |
Increased bleeding tendency; vision loss after vitreous hemorrhage; Severe MI Surgery for cleft palate; Feeding difficulties; retrognathia; horse shoe kidney; osteoporosis; neonatal apneas and hypotonia. Epilepsy; moderate-severe developmental delay |
| 13 | 16 | No |
Frequent URTI; frequent ENTI requiring tubes; no VZV |
Sporadic antibiotics; frequent urinary tract-infections, once complicated by pyelonephritis |
Frequent diaper dermatitis, needing miconazole |
No bleeding tendency Fever-related convulsions Moderate-severe developmental delay |
||
Abbreviations: AB antibiotics, ADHD attention deficit hyperactivity disorder, ASD atrial septum defect, BHR bronchial hyperreactivity, ENT ear-nose-throat, GERD gastro-esophageal reflux disease, GI gastro-intestinal, HLHS hypoplastic left heart syndrome, ICS inhalation corticosteroids, IgRT immunoglobulin replacement therapy, iv intravenous, LRTI lower respiratory tract infections, MI mitral valve insufficiency, MS mitral valve stenosis, ODB open duct of Botalli, RSV respiratory syncytial virus, URTI upper respiratory tract infections, VSD ventricular septum defect, VZV varicella-zoster virus, y year