A106 TTC7A MUTATION AND CHRONIC PRURITUS, A CASE REPORT
Bibliographic record
Abstract
Abstract Background TTC7A mutation is a rare autosomal recessive disease that can present with various phenotypes including multiple intestinal atresia (MIA), very early onset inflammatory bowel disease (VEOIBD), and profound combined immunodeficiency with hypoplastic thymus, altered T- and B-cell maturation, lymphopenia, monocytosis and agammaglobulinemia. Although TTC7A mutation mostly affects immune and gut function, it is a multisystemic disease. Chronic pruritus has not been described yet. Aims To describe the case of a child with TTC7A mutation with chronic pruritus and the potential treatment options. Methods Case report and review of literature Results We report a child with TTC7A mutation who developed severe chronic pruritus. The child presented ileal atresia and pyloric stenosis and underwent ileo-caecal resection and pyloroplasty at birth. She required a latero-lateral anastomosis between the stomach and the duodenum because of recurring pyloric stenosis and several dilatations of her ileo-colic anastomosis. She remained dependant on parenteral nutrition for most of her caloric needs. Her immune deficiency manifested with a very low lymphocyte count and low immunoglobulins. She had pneumocystis Carinii infection at 3 months of age and was put on gammaglobulin injections and pentamidine prophylaxis. At 3 years of age, she developed severe pruritus that led to skin infection and recurrent Staphylococcus Aureus sepsis. A skin biopsy revealed eczematous dermatitis with eosinophilic infiltration. Various treatments were attempted. Replacing lipid fat emulsion by fish oil emulsion in her parenteral nutrition did not improve her symptoms. Amitryptiline, gabapentine, hydroxyzine hydrochloride and levofloxacine also failed. Corticosteroids seemed to have a mild effect. A trial of Mepolizumab (anti-IL 5) was unsuccessful. At age of 4, after a sepsis treated by vancomycin, she presented with severe bullous skin disease. Skin biopsy was compatible with linear IgA bullous dermatosis. She was put on dupilumab and systemic corticosteroids. Dupilumab inhibits signaling of both IL-4 and IL-13, two cytokines involved in inflammation that contribute to atopic dermatitis. With this combination of IV steroids and dupilumab, pruritus has improved significantly. Conclusions Our patient’s evolution suggests that some TTC7A mutation can be complicated with severe pruritus and IgA linear bullosis. Skin disease, combined with immunodeficiency and the presence of a central line can lead to life threatening sepsis. Pruritus did not respond to usual treatments but improved the combination of intravenous steroids and dupilumab suggesting a role of IL-4 and IL-13 in the pathophysiology of the pruritus associated with this disease. Hematopoietic stem cell transplantation, may be an alternative solution. Funding Agencies None
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.002 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.003 | 0.002 |
| Science and technology studies | 0.002 | 0.001 |
| Scholarly communication | 0.002 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.004 | 0.002 |
| Insufficient payload (model declined to judge) | 0.003 | 0.001 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".