Table 1.
Clinical features, therapy and outcome in reported IPEX patients.
| Reported by | Pt° | Mutation | Age at onset | Age at diagnosis | Diarrhea | T1DM | Eczema | Eos (/mm3); IgE (IU/mL) | Additional clinical findings | Therapy | Outcome♦ |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Peake et al. (1996), Wildin et al. (2001) | V6f, 2f | c.1290_1309del_insTGG | 6 weeks | Post mortem | + | + | + Peeling skin | 3170; 9999–40,000 μg/L | Anemia, lymphadenopathy, sepsis | TPN, plasma IV | Exitus 10 months |
| Ferguson et al. (2000), Bennett et al. (2001b), McGinness et al. (2006) | F1-V1f, V2f, 1f | c.1150G>A | 1 month | 9 years | + | − | + | 230–900; 755–3492 | Pemphigoid nodularis; bullous pemphigoid; infections, asthma | PD, CSA, dapsone, IgIV, rituximab | Alive 14 years |
| Ferguson et al. (2000), Bennett et al. (2001b) | F1-IV10f | c.1150G>A# | 2 months | – | − (Vomiting) | − | + | 936; 250 | Hypothyroidism; infection | na | Exitus 10 months |
| F1-V4f | c.1150G>A# | 2 weeks | – | + | + | + | 620; 30 | Hypogammaglobulinemia, infections, sepsis | IgIV | Exitus 2 years | |
| Ferguson et al. (2000), Bennett et al. (2001b) | F1-V5f, V7f | c.1150G>A | 3 weeks | Post mortem | − | + | + | 500; 22 | Sepsis | IgIV, CSA | Exitus 12 weeks |
| Chatila et al. (2000) | 3-F1; F2f −14, 15, 27, 28 | c.1044 + 4A>G; c.750_752delGGA | 3 weeks −3 months | na | 5/5 | 5/5 | 4/5 | na; 4/5 hyper IgE | Autoimmune cytopenia 3/5, food allergy5/5 | na | Exitus 1/5, alive 4/5 |
| Levy-Lahad and Wildin (2001), Wildin et al. (2001) | 1f, F1f | c.1189C>T# | Birth | – | − (Atonic gut) | − | + | na | Hypotonia, hypothyroidism, thrombocytopenia, peritonitis, cholangitis | – | Exitus 19 days |
| 2f, F1f | c.1189C>T | Birth | Post mortem | − (Ileo) | + | − | na | Cachexia, hypotonia, thrombocytopenia, peritonitis | – | Exitus 5 weeks | |
| 3f, F1f | c.1189C>T# | Birth | – | + | + | − | na | Infections, sepsis | Dexamethasone, CSA | ||
| Wildin et al. (2001) | 3na | c.1113T>G | na | na | + | + | + | na | Anemia | HSCT | Alive, age na |
| 4na | c.1150G>A | na | na | + | + | + | na | Hypothyroidism, thrombocytopenia, sepsis | na | Exitus 4 months | |
| Bennett et al. (2001b), Kobayashi et al. (2011) | F2, 5 | c.1293_1294delCT | na | na | + | − | − | na | – | HSCT | Exitus age na |
| Kobayashi et al. (2001, 2011), Fuchizawa et al. (2007), Otsubo et al. (2011) | 1f, 1f, 3, 1f | c.227delT | 15 days | na | + | − | − | na; + | Thyroiditis, AHA, tubulonephropathy* | FK506, betamethasone | Alive 19 years |
| Kobayashi et al. (2001, 2011) | 2f, 4f | c.1087A>G | na | na | + | + | − | na; + | Thyroiditis, tubulonephropathy*, infections, sepsis | na | Exitus 3 years |
| Baud et al. (2001) | 1f | c.1113T>G# | na | – | + | + | Ichthyosis | na | ITP | na | Exitus 4.5 months |
| 2f | c.1113T>G | 1 month | 4 months | + | + | Ichthyosis | na; 1750 | ITP, AHA, autoimmune neutropenia, cholestatic hepatitis | MPD, FK506, HSCT | Exitus 2 years 7 months | |
| Wildin et al. (2002), McMurchy et al. (2010) | 1f | c.1040G>A | 3 months | 13 years | + | + | − | na | Infection (sepsis) | PD, CSA, FK506, HSCT | Exitus 14 years |
| Wildin et al. (2002) | 2 | c.1044 + 459A > G | <1 month | na | + | + | + | na | Lymphadenopathy, hepatosplenomegaly eczema, hypothyroidism, AHA, immune neutropenia, infections | Steroids, rituximab, IgIV | Alive 5 years |
| 3f | c.748_750delAAG, c.543C>T | 2 months | 9 years | + | + | − | na | Arthritis, ITP, hepatomegaly, mild hepatitis, progressive renal insufficiency | Steroids, CSA, FK506, rofecoxib, MTX, rituximab, IgIV, HSCT | Exitus 10 years | |
| Owen et al. (2003) | A-1f | c.227delT# | 2 weeks | – | + | − | + | na | Lymphoid infiltration of the pancreas | na | Exitus 6 weeks |
| A-2f | c.227delT | 3 weeks | na | + | − | + | na | Hepatitis | PDN, AZA, CSA | Alive 10 years | |
| Nieves et al. (2004) | 1na | c.1150G>A | 7 months | 9 years | + | + | + | +; 33 | Alopecia, longitudinal ridging nails, autoimmune neutropenia, severe anemia, subclinical thyroiditis | PD, CSA, IgIV, G-CSF | Alive 11 years |
| Tanaka et al. (2005), Fuchizawa et al. (2007), Kobayashi et al. (2011), Otsubo et al. (2011) | 1, 4, 1, 3 | c.1117T>G | 2 months | 4 months | + | − | − | na; 2895–7275 | – | CSA, PD, IgIV, HSCT | Alive 7 years |
| Bindl et al. (2005) | 1na | c.968-20A>C | 7 years | 10 years | + | − | Dermatitis | na; 17,370 | CSA induced chronic interstitial nephritis | Steroids, PD, AZA, CSA, MTX, rapa | Alive 15 years |
| 2f | + | <2 months | + | − | + | na; 3000 | – | Steroids, FK506, AZA, rapa | Alive age na | ||
| 3f | + | <2 months | + | − | + | na; 2000 | – | Steroids, FK506, AZA, rapa | Alive age na | ||
| Mazzolari et al. (2005) | 1na | promoter region | 4 months | <1 year | + | − | + | na; 763 | sepsis | MPD, CSA, HSCT | Alive 2 years 4 months |
| Bacchetta et al. (2006), Gambineri et al. (2008), McMurchy et al. (2010), Passerini et al. (2011b) | 1, 12, 12, 12 | c.1117-1118TT>GC | neonatal | 3 months | + | + | + | 768; 8423 | – | MMF, HSCT | Alive 9 years |
| 2 f, 5f, 6f, 5f, 5f | c.543C>T, c.970T>C | neonatal | + | − | + | 2780; 374 | Allergic asthma | None | Alive 7 years | ||
| 3, 2, 1, 2 | c.3G>A | Neonatal | <1 years | + | + | + | 552; 28,800 | Hypothyroidism, lymphadenopathy, hepatosplenomegaly | MPD, CSA, HSCT | Alive 10 years | |
| De Benedetti et al. (2006) | 1f | c.454 + 4A>G | 18 days | 22 years | + | − | + | N; 200 | Recurrent arthritis, psoriasiform dermatitis, hepatomegaly | PD, MPD, CSA, FK506, infliximab | Alive 22 years |
| 2 | c.323C>T | 14 months | 7 years | + | − | − | N; 74 | Steroid-responsive pneumonia and pericarditis, recurrent arthritis | PDN, PD, AZA | alive 7 years | |
| Myers et al. (2006) | 1na | c.1-7G>T | 1 day | Post mortem | + | § | − | na | Hypothyroidism, Infections | na | Exitus 54 days |
| 2na | c.1169G>A | 4 days | Post mortem | + | + | + | na | Infections | na | Exitus <2 years | |
| Gavin et al. (2006) | 1na | c.210_210 + 1GG>AC | na | na | + | + | + | na; high | AHA, ITP | FK506, steroids, TPN | Alive 5 months |
| 2-p1f | c.751_753delGAG | na | na | + | + | + | na; high | Thyroiditis, AHA | Intermittent steroids | Alive 6 years | |
| 2-p2f | c.751_753delGAG | na | na | + | + | + | na; high | Thyroiditis | FK506 | Alive 9 years | |
| 3f | g.-6247_-4859del | na | na | + | - | + | na; high | food allergies | FK506 | Alive 4 years | |
| Moudgil et al. (2007), Rao et al. (2007) | 1, 2 | c.303_304delTT | 4 months | 6 months | + | + | + | –; 1564 | Alopecia, AHA, lymphadenopathy, hypothyroidism, MGN, food allergies, infections | TPN, CSA, PD, rituximab, HSCT | Alive 4 years |
| Heltzer et al. (2007) | 1na | c.817-1G>A | birth | Post mortem | + | § | Rush | na; 5320 | – | FK506 | Exitus 79 days |
| 2na | c.1061delC | <2 months | 2 years | + | − | + | na; 134 | – | NGT, infliximab, illeostomy, mercaptopurine, steroids | Alive 4 years | |
| 3na | c.210G>T | 2 months | na | + | − | + | na; 6 | Recurrent airway infections, ITP, motor delay, hypoglycemic seizures, anemia of chronic diseases, osteopenia, hypogammaglobulinemia | TPN, NGT, Rapa, IgIV | Alive 8 years | |
| Rao et al. (2007) | 1na | Splice junction Intron 9 | na | na | + Colitis | na | + | na | Food allergies, reactive airways disease, AHA, infections | Imuran, CSA, PD, HSCT | Alive 9 years |
| 3na | c.1271G>A | na | na | + Colitis | na | + | na | food allergies, AHA, MGN, infections | FK506, MMF, PD, HSCT | Alive 5 years | |
| 4na | c.1226A>G | na | na | + Colitis | na | − | na | AHA | TPN, FK506, rituximab, PD, alemtuzumab, HSCT | Alive 1 years | |
| Torgerson et al. (2007), Halabi-Tawil et al. (2009), Patey-Mariaud de Serre et al. (2009), Moes et al. (2010) | IV.1f, 6f, 8f, 2na | g.-6247_-4859del | 3 weeks | na | + | − | + | 950; >3000 | Food allergies, cheilitis, onychodystrophy, recurrent infections, sepsis, Hp gastritis | TPN, FK506, Rapa | Alive 6 years |
| IV.2f, 7f, 7f, 1na | g.-6247_-4859del | 5 weeks | na | + | − | + | 2400; 365–>2000 | Food allergies, cheilitis, recurrent infections, sepsis | TPN, steroids, FK506, AZA, Rapa | Alive 9 years | |
| Lucas et al. (2007), McLucas et al. (2007) | 1f | Exon 10# | <1 years | 6 years | + | − | Dermatitis | na | Hypogammaglobulinemia, anemia, pneumonias, laryngeal papillomatosis, Norwegian scabies | TPN, HSCT | Alive 7 years |
| Burroughs et al. (2007) | 1na | c.1271G>A | na | na | + | + | − | na | MGN | HSCT | Alive 6 years |
| Fuchizawa et al. (2007), Otsubo et al. (2011) | 2f, 2f | c.1150G>A | 2 months | na | − | − | + | na | Asthma, Adrenal Insufficiency | Steroids | Alive 10 years |
| Fuchizawa et al. (2007) | 3f | c.1150G>A | 19 days | na | + | − | + | na | – | – | Alive 15 years |
| Suzuki et al. (2007) | 1na | c.1099T>C | 8 days | na | + | + | + | na | Liver dysfunction, thrombocytopenia, sepsis | na | Exitus 4 months |
| Taddio et al. (2007), Gambineri et al. (2008), Passerini et al. (2011b) | 1, 11, 11 | c.1150G>A | Neonatal | 6 years | + | + | + | 4900; 1494 | Thyroiditis, alopecia, AHA, interstitial pneumonia | Sterois, CSA, FK506, AZA, Rapa, IgIV | Alive 16 years |
| Lucas et al. (2008) | 1f | exon 10 | 3 months | <1 years | + | − | + | 5400; na | Thrombocytopenia, Aphthous stomatitis, EBV-induced lymphoma | Rapa, Cx, VCR, PN | Alive, 2 years 6 months |
| Gambineri et al. (2008) | 1 | c.2T>C | Neonatal | Post mortem | + | + | − | 803; 3910 | Sepsis | MPD, CSA, FK506, IgIV | Exitus 3 months |
| Gambineri et al. (2008), Passerini et al. (2011b) | 3, 3 | c.210 + 2T>G | Neonatal | 6 months | + | + | + | 2187; na | Hypothyroidism, hepatitis, sepsis | MPD, CSA, FK506, AZA, IgIV, HSCT | Alive 5 years |
| Gambineri et al. (2008) | 4na | c.543C>T | Neonatal | 4 months | + | − | − | 710; 3 | – | MPD, CSA, IgIV | Exitus 5 months |
| 6na | c.816 + 5G>A | neonatal | 1 years | + | + | + | na; 517 | – | PD, AZA | Exitus 9 months | |
| Gambineri et al. (2008), Passerini et al. (2011b) | 7na, 7na | c.967 + 4A>G | Neonatal | <1 years | + | + | + | 700; >2000 | Hepatitis | MPD, FK506, AZA | Alive 9 years |
| Gambineri et al. (2008), Passerini et al. (2011b) | 8na, 8na | c.1015C>G | Neonatal | 5 months | + | + | − | na | AIH, AHA, hepatosplenomegaly | MPD, FK506, AZA, Rapa | Exitus 6 months |
| Gambineri et al. (2008), McMurchy et al. (2010), Passerini et al. (2011a,b) | 9, 9, 9 | c.1040G>T | Neonatal | 1 years | + | + | + | 498; 1966 | AIH, AIT, anemia, food allergy | PD, CSA | Alive 15 years |
| Gambineri et al. (2008), McMurchy et al. (2010) | 10na, 10na | c.1040G>T | <1 year | na | Severe chronic gastritis | + | Xerosis | na; >230 | Pancreatic exocrine failure, gastrectomy | MPD, CSA | Alive 23 years |
| Gambineri et al. (2008) | 13na | c.1121T>G | Neonatal | <1 year | + | − | + | na; 7000 | Alopecia, AHA, AIT, CMV infection | MPD, FK506, AZA | Exitus, 11 months |
| Gambineri et al. (2008), Passerini et al. (2011a,b) | 14na | c.725T>C | 4 months | 11 years | + | − | + | 1550; 5218 | Sepsis, nephropathy | MPD, PD, CSA, FK506 | Alive 15 years |
| Costa-Carvalho et al. (2008) | 1f | c.1045-3C>G | Birth | na | + | + | + | N; na | Hypothyroidism, AHA, infections | na | Exitus, 11 months |
| Yong et al. (2008) | 1 | c.1061delC | 2.5 years | <5 years | + | − | Dermatitis | na | Infections | Steroids, mesalazine, infliximab, AZA, 6-MP, rapa | Alive 7 years |
| 2f | c.210G>T | 1 week | 7 years | + | − | + | na | Respiratory and GI infections, AHA, ITP | IgIV, TPN, steroids, rapa | Alive 8 years | |
| Zhan et al. (2008) | 1na | c.1139C>T | 4 months | 5 months | + | − | − | na; high | – | PDN, AZA, FK506, TPN, HSCT | Alive 3 years |
| Redding et al. (2009) | 1f | c.1150G>A | 6 weeks | na | + | − | + | 3753; 157 | External otitis, sepsis, bacteremia, AHA | CSA, PDN, HSCT | Alive 2 years |
| Halabi-Tawil et al. (2009) | 1na | c.1113T>G | na | na | + | e | + Erythroderm | na | Congenital ichthyosis, HA, recurrent infections, sepsis | na | na |
| 2na | c.736-1G>A | na | na | + | e | + Erythroderm | na | Cheilitis, HA, MGN, recurrent infections, sepsis | na | na | |
| 3na | c.1101C>G | na | na | + | e | + | na | Recurrent infections, sepsis | na | na | |
| 4na | c.560C>T | na | na | + | e | + Psoriasiform rash | na | Cheilitis, onychodystrophy, HA, recurrent infections | na | na | |
| 5na | c.1121T>G | na | na | + | e | + Psoriasiform rash | na | HA, MGN, recurrent infections, sepsis | na | na | |
| 8na | c.751_753delGAG | na | na | + | e | − | na | HA, recurrent infections | na | na | |
| 9na | c.751_753delGAG | na | na | + | e | − | na | HA, recurrent infections, sepsis | na | na | |
| D’Hennezel et al. (2009) | 1 | c.1150G>A | birth | <7 weeks | + | + | Exfoliative dermatitis | na | Hypothyroidism, Respiratory Distress, Seizures, Renal Failure, Pancytopenia | TPN, rapa | Exitus 7 weeks |
| Patey-Mariaud de Serre et al. (2009) | 1na | Truncated Protein | 1.5 months | na | + | − | Dermatitis | na; N | AIT | na | na |
| 2na | truncated protein | 6.5 years | na | + | − | Dermatitis | na; N | Allergic Asthma | na | na | |
| 3na | c.1100T>G | 1 year | na | + | + | − | na; N | tubulointerstitial nephritis | na | na | |
| 4na | p.E251del | 4 months | na | + | + | − | na; high | AHA, AIN | na | na | |
| 5na | c.1121T>G | 2 months | na | + | + | Dermatitis | na; high | AIT, AIN | na | na | |
| 6na | c.1113T>G | 4 months | na | + | − | Dermatitis | na; N | AHA, AIT | na | na | |
| 9na | c.560C>T | 11 months | na | + | − | Dermatitis | na; high | AIT, food allergy | na | na | |
| 10na | p.E251del | 7 months | na | + | + | − | na; high | AIT, AIN, tubulointerstitial nephritis | na | na | |
| 11na | Truncated protein | 6 months | na | + | + | Dermatitis | na; N | AHA, AIT, MGN | na | na | |
| 12na | p.E251del | 1 year | na | + | − | − | na; N | – | na | na | |
| Hashimura et al. (2009), Otsubo et al. (2011) | 1f, 4f | c.748_750delAAG | 2 months | 5 years | − Vomiting | + | + | na; 1141 | Food allergy, nephrotic syndrome, infections, AHA, sepsis | CSA, MPD | Alive 5 years |
| Rubio-Cabezas et al. (2009) | I | c.1222G>A | 2 days | na | − | + | − | na, N | Nephrotic syndrome, TIA, chronic diabetes complications | na | Alive 15 years |
| IIaf | c.1222G>A | 3 weeks | na | + | + | − | na; N | Thyroiditis, mucocutaneous candidiasis, infections | na | Alive 12 years | |
| IIbf | c.1222G>A | 3.5 months | na | + | + | − | na; N | Thyroiditis, mucocutaneous candidiasis, infections | na | Alive 12 years | |
| III | c.1010G>A | 30 days | na | + | + | − | na; 2266 | – | na | Exitus, 13 months | |
| IV | c.1015C>G | 1 week | na | Mal digestion | + | + | na; N | Thyroiditis | na | Exitus, 5.5 months | |
| V | c.227delT | 1 day | na | + | + | − | −; 132 | Anemia, neutropenia, thrombocytopenia, dysthyroidism, infections | na | Exitus 8 months | |
| Scaillon et al. (2009), McMurchy et al. (2010) | 1na | c.1040G>A | 8 months | 19 years | Gastritis | + | − | N; N | Autoimmune gastritis, pancreatic atrophy, hypo-γ-globulinemia, infections, bronchiectasis, | PDN | Alive 22 years |
| Dorsey et al. (2009) | 1f | c.***878A>G | neonatal | 4.5 months | + | § | + | 850; >5000 | Sepsis | Rapa, MTX, PD, HSCT | Alive 1 years |
| Burroughs et al. (2010) | 1na | c.210 + 2delT | 2 months | 2 months | + | + | − | 1000–2000; 183 | Hemolytic anemia, infections | HSCT | Alive, 4 years 9 months |
| 2na | c.816 + 7G>C | na | 11 years | + | + | − | 2000; 842 | Anemia, steroid-dependent interstitial lung disease, membranous nephropathy, hypothyroidism, infections | HSCT | Alive 17 years | |
| Harbuz et al. (2010) | F1f – II3, II4, IV4, IV5, 3, 4, 5, 6 | c.816 + 4A>G# | na | – | 6/6 | na | na | na | sepsis | PN | Exitus <5 years 6/6 |
| F2f – 1 | c.816 + 4A>G | 2 months | Post mortem | + Vomiting | − | + | na; >4200 | Sepsis | Steroids, TPN | Exitus 3 years | |
| Moes et al. (2010) | 3na | g.560C> T | Birth | na | + | − | Skin pathol, | High; 5500 | Thrombocytopenia, Basedow hyperthyroidism, Hp gastritis, allergy | FK506, HSCT | Exitus 8 years |
| 4na | c.1121T>G | Birth | na | + | − | + | High; 8500 | Hemolytic anemia, thrombocytopenia, allergy | FK506, Rapa | Exitus, 14 months | |
| 5na | c.751_753delGAG | 6 weeks | na | + | − | + | High; 12,500 | Hypothyroidism, interstitial nephritis, hemolytic anemia, | FK506, Rapa, HSCT | Exitus 10 years | |
| 6na | c.751_753delGAG | 4 weeks | na | + | + | Skin pathol | na; 2150 | AIH, hemolytic anemia, agranulocytosis | FK506 | Exitus 8 months | |
| 7na | c.1015C>G | 7 days | na | + | + | Skin pathol, no eczema | na; 650 | Hemolytic anemia | FK506 | Exitus 7 months | |
| Tsuda et al. (2010) | 1 | c.210 + 1G>A | na | na | + | + | + | na; 3700 | Thyroiditis, hepatitis, nephropathy | HSCT | na |
| 2 | c.210 + 1G>A | na | na | − | − | + | na; 3210 | nephropathy | na | na | |
| 3 | c.543C>T | na | na | + | − | − | na; 1 | – | na | na | |
| 4 | c.816 + 7G>C | na | na | + | + | + | na; 842 | Thyroiditis, nephropathy, recurrent infections | na | na | |
| 5 | c.817G>T | na | na | + | − | + | na; 364 | Thyroiditis | na | na | |
| 8 | c.1150G>A | na | na | + | − | + | na; 2444 | – | na | na | |
| 9 | c.1157 G>A | na | na | + | − | − | na | – | na | na | |
| 10 | c.1169G>A | na | na | + | + | + | na; 2950 | Recurrent infections | na | na | |
| 11 | c.1190G>A | na | na | + | + | + | na; 657 | – | na | na | |
| 12 | c.***876A>G | na | na | + | − | + | na | – | na | na | |
| Wang et al. (2010) | 1na | Intron1 | 2.5 months | 2.5 months | + | + | + | na; + | Thrombocytopenia, hepatitis, hypothyroidism, infections | na | Exitus 4.5 months |
| An et al. (2011) | 1f | c.1080_1081insA | 20 days | Post mortem | + | + | + | 9910; 75 | Proteinuria, Sepsis | Supportive treatment | Exitus 1 month |
| 2f | c.1110G>A | 14 days | Post mortem | + | − | + | 22; 681 | Nephrotic syndrome, lymphadenopathy, splenomegaly, pneumonia | Supportive treatment | Exitus 11 months | |
| 3f | c.970T>C | 26 days | Post mortem | + | + | − | 3450; 3 | Pneumonia | Supportive treatment | Exitus 5 months | |
| Bae et al. (2011) | 1 | c.210 + 1G>A | 11 months | 11 years | + | + | − | N; na | PRCA, MGN, infections | PD | Alive 13 years |
| Kobayashi et al. (2011) | 2 | c.1-23G>T | na | na | + | + | − | na | Nephrotic syndrome | CSA, CS | Alive, age na |
| Otsubo et al. (2011) | 5f | c.210 + 1G>T | 6 months | na | + | + | − | na; na | Nephrotic syndrome | CSA, steroids | Alive 26 years |
| Kasow et al. (2011) | 1f | c.1150G>A | 1.5 months | <7 months | + | − | + | +; 157–1000 | AHA, infections | Rituximab, CSA, PD, HSCT | Alive 3 years 7 months |
| Lopez et al. (2011) | 1 | c.748_750delAAG | 2 months | na | + | + | + | +; 45 | AIH | PD, CSA, AZA, HSCT | Alive 6 years |
| Passerini et al. (2011b) | 17 | c.1037T>C | Neonatal | <4 months | + | − | Seborrhoeic dermatitis | 467; 1278 | Infections, sepsis | MPD, FK506, HSCT | Alive 3 years |
| 18 | c.***876A>G | Neonatal | na | + | − | Seborrhoeic dermatitis | 2300; >2000 | Hypotonia | TPN, steroids, CSA, HSCT | Alive 8 years | |
| Passerini et al. (2011a) | 20 | c.816 + 2delT | 5 months | 27 years | + | − | + | 20; 424 | AIT, osteomyelitis, arthritis, S. aureus sepsis, bronchitis | CSA, MPD, Rapa | Alive 28 years |
Pt, patient; Eos, eosinophils; na, not available; N, within normal ranges; e, unspecified endocrinopathy; ITP, idiopathic thrombocytopenic purpura; AIT, autoimmune thrombocytopenia; AIN, autoimmune neutropenia; PRCA, pure red cells aplasia; MGN, membranous glomerulonephritis; AHA, autoimmune hemolytic anemia; HA, hematological abnormalities (cytopenias, hepatosplenomegaly, or lymphadenopathy); AIH, autoimmune hepatitis; TIA, transient ischemic attack; MSSA, Methicillin-sensitive Staphylococcus aureus; PN, parenteral nutrition; TPN, total parenteral nutrition; NGT, nasogastric tube; PD, prednisone; PDN, prednisolone; CSA, cyclosporine; FK506, tacrolimus, MTX, methotrexate; AZA, azathioprine; Cx, cyclophosphamide; VCR, vincristine; HSCT, hematopoietic stem cells transplantation; FU follow-up; TNDM, transient neonatal diabetes; GI, gastrointestinal.
*In this case, tubulonephropathy could be due both to the underlying disease or to tacrolimus.
°Patient ID refers to the enumeration of patients as reported in the original publications listed in column 1.
§Hypo or hyperglycemia.
fPositive familial history.
#The mutation has not been studied in this patient but in other relatives with an IPEX phenotype belonging to the same gender.
♦The age written in the outcome column refers to the age of the patients at the latest follow-up from each publication.