Table 2.
Autoimmune conditions diagnosed in 11 out of 104 patients with cartilage-hair hypoplasia.
| No. | AI disease | Age at diagnosis of AI disease, yrs | Age at the latest follow-up, yrs | Treatment | Outcome of AI disease | Other symptoms |
|---|---|---|---|---|---|---|
| 1 | Enteropathy | 3 | Died in young adulthood | None specific | Died from pneumonia following bowel occlusion | Anemia, arthralgia, asthma, pneumonia |
| MMAN | 28 | IVIG | Moderate clinical improvement | |||
| 2 | Seronegative juvenile polyarthritis | 6 | Young adulthood | NSAIDs, i/a and oral steroids, MTX, HCQ, leflunomide | Etanercept is under consideration for relapsing arthritis | None |
| 3 | AIHA | 10 | Young adulthood | IVIG | Remission after 9 yrs of treatment | Arthralgia, Hirschsprung disease, lymphoma, pneumonia, sepsis |
| 4 | Narcolepsy | 11 | Young adulthood | None specific, narcolepsy was not related to influenza vaccine | No remission | Allergy, anemia |
| 5 | AIHA | 11 | Died in adolescence | Prednisolone | Remission after short course of therapy | Anemia, pneumonia, sepsis |
| Psoriasis | 12 | Local therapy | Disease under control until death | |||
| Enteropathy | 14 | None specific | Died from pneumonia following profound diarrhea | |||
| 6 | Graves' disease | 15 | Young adulthood | Carbimazole, thyroidectomy | Cured after thyroidectomy | Allergy, arthralgia |
| 7 | ITP | 29 | Died in adulthood | Prednisolone | Remission after 1.5 yrs of therapy. Died from lymphoma | Allergy, arthralgia, diarrhea, lymphoma, pneumonia, sepsis |
| 8 | Celiac disease* | 30 | Died in adulthood | Unknown | Unknown. Died from pneumonia | Arthralgia, pneumonia |
| 9 | Enteropathy | 35 | Young adulthood | None specific | Investigations ongoing | Anemia, arthralgia, pneumonia |
| 10 | Psoriasis | 41 | Died in adulthood | Local therapy | Disease under control until death from lymphoma | Allergy, arthralgia, Hirschsprung disease, lymphoma, pneumonia |
| 11 | Ulcerative colitis | 68 | Died in mature adulthood | Mesalamine | Disease under control until death from end-stage lung disease | Allergy, asthma, bronchiectasis, meylodysplasia, pneumonia |
AI, autoimmune; AIHA, autoimmune hemolytic anemia; HCQ, hydroxychloroquine; i/a, intra-articular; ITP, idiopathic thrombocytopenic purpura; IVIG, intravenous immunoglobulin; MMAN, multifocal motor axonal neuropathy; MTX, methotrexate; No, patient number; NSAID, nonsteroidal anti-inflammatory drug; yrs, years.
*
data on histopathology is not available.