Clinical and genetic features of XL-EDA-ID patients
| Patient . | Mutation . | Ectodermal dysplasia . | Mitogen-induced proliferation . | Infections . | Complications . | Therapy . | Sex chromosome chimerism . |
|---|---|---|---|---|---|---|---|
| 1 | Duplication | + | Reduced | Sepsis (S.P. and P.A.) | Chronic diarrhea | IVIG | 100% XY |
| Disseminated M.A.C. | Failure to thrive | RFP, CAM, AMK, EB | |||||
| Skin abscess (S.A.) | Small intestinal stenosis | Rifabutin | |||||
| Invasive Aspergillus | Lymphedema | ||||||
| 2 | Duplication | + | Reduced | Sepsis (E coli) | Failure to thrive | IVIG, ST, EB, CAM | 99.8% XY 0.2% X |
| Disseminated M.S. | Rifabutin, SCT | ||||||
| 3 | D311E | − | Normal | Disseminated B.C.G. | IVIG, INH | 100% XY | |
| Sepsis (S.P.) | RFP, SCT | ||||||
| 4 | A169P | + | Normal | Meningitis (S.P.) | IBD | IVIG, ST, PSL | 99% XY |
| Interstitial pneumonia | CyA, MTX, Infliximab | ||||||
| Rheumatoid arthritis | |||||||
| 5 | L227P | + | Normal | Recurrent pneumonia | IBD | ST, mesalazine | Not done |
| Pyogenic coxitis | Infliximab | ||||||
| Recurrent otitis media | |||||||
| 6 | R182P | + | Not done | Recurrent otitis media | IBD | ST, mesalazine | 99.8% XY 0.2% X |
| UTI, Recurrent stomatitis | |||||||
| Subepidermal abscess | |||||||
| 7 | R175P | + | Normal | Recurrent sepsis (S.P.) | IVIG | 100% XY | |
| 8 | Q348X | + | Normal | Disseminated B.C.G. | IBD | IVIG, ST | 100% XY |
| 9 | R175P | + | Normal | Recurrent pneumonia | IBD | IVIG | 100% XY |
| Recurrent otitis media | 5-aminosalicylic acid | ||||||
| Kaposi varicelliform eruption | |||||||
| 10 | 1167 ins C | + | Normal | Sepsis and Enteritis (E.A) | Failure to thrive | IVIG, SCT | Not done |
| Sepsis (C.G.) | Pyloric stenosis, colon polyps | ||||||
| UTI (K.P.) |
| Patient . | Mutation . | Ectodermal dysplasia . | Mitogen-induced proliferation . | Infections . | Complications . | Therapy . | Sex chromosome chimerism . |
|---|---|---|---|---|---|---|---|
| 1 | Duplication | + | Reduced | Sepsis (S.P. and P.A.) | Chronic diarrhea | IVIG | 100% XY |
| Disseminated M.A.C. | Failure to thrive | RFP, CAM, AMK, EB | |||||
| Skin abscess (S.A.) | Small intestinal stenosis | Rifabutin | |||||
| Invasive Aspergillus | Lymphedema | ||||||
| 2 | Duplication | + | Reduced | Sepsis (E coli) | Failure to thrive | IVIG, ST, EB, CAM | 99.8% XY 0.2% X |
| Disseminated M.S. | Rifabutin, SCT | ||||||
| 3 | D311E | − | Normal | Disseminated B.C.G. | IVIG, INH | 100% XY | |
| Sepsis (S.P.) | RFP, SCT | ||||||
| 4 | A169P | + | Normal | Meningitis (S.P.) | IBD | IVIG, ST, PSL | 99% XY |
| Interstitial pneumonia | CyA, MTX, Infliximab | ||||||
| Rheumatoid arthritis | |||||||
| 5 | L227P | + | Normal | Recurrent pneumonia | IBD | ST, mesalazine | Not done |
| Pyogenic coxitis | Infliximab | ||||||
| Recurrent otitis media | |||||||
| 6 | R182P | + | Not done | Recurrent otitis media | IBD | ST, mesalazine | 99.8% XY 0.2% X |
| UTI, Recurrent stomatitis | |||||||
| Subepidermal abscess | |||||||
| 7 | R175P | + | Normal | Recurrent sepsis (S.P.) | IVIG | 100% XY | |
| 8 | Q348X | + | Normal | Disseminated B.C.G. | IBD | IVIG, ST | 100% XY |
| 9 | R175P | + | Normal | Recurrent pneumonia | IBD | IVIG | 100% XY |
| Recurrent otitis media | 5-aminosalicylic acid | ||||||
| Kaposi varicelliform eruption | |||||||
| 10 | 1167 ins C | + | Normal | Sepsis and Enteritis (E.A) | Failure to thrive | IVIG, SCT | Not done |
| Sepsis (C.G.) | Pyloric stenosis, colon polyps | ||||||
| UTI (K.P.) |
S.P. indicates Streptococcus pneumoniae; P.A., Pseudomonas aeruginosa; IVIG, intravascular immunoglobulin infusion; M.A.C., Mycobacterium avium complex; S.A., Staphylococcus aureus; E coli, Escherichia coli; ST, trimethoprim-sulfamethoxazole; M.S., Mycobacterium szulgai; AMK, amikacin; EB, ethambutol; CAM, clarithromycin; SCT, stem cell transplantation; B.C.G., Bacille de Calmette et Guerin; INH, isoniazid; RFP, rifampicin; IBD, inflammatory bowel disease; PSL, prednisolone; CyA, cyclosporine A; MTX, methotrexate; UTI, urinary tract infection; E.A., Enterobacter aerogenes; C.G., Candida glabrata; and K.P., Klebsiella pneumonia.