Bronchiectasis with or without elevated sweat chloride 2- MedGen UID:
- 414437
- •Concept ID:
- C2751666
- •
- Disease or Syndrome
Patients with bronchiectasis with or without elevated sweat chloride-2 (BESC2) have bronchiectasis and chronic bronchitis of varying severity. Pancreatic insufficiency may be present (Azad et al., 2009).
For discussion of genetic heterogeneity in bronchiectasis with or without elevated sweat chloride, see BESC1 (211400).
Inflammatory skin and bowel disease, neonatal, 2- MedGen UID:
- 863567
- •Concept ID:
- C4015130
- •
- Disease or Syndrome
Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the EGFR gene.
Immunodeficiency 76- MedGen UID:
- 1781281
- •Concept ID:
- C5543004
- •
- Disease or Syndrome
Immunodeficiency-76 (IMD76) is an autosomal recessive primary immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Laboratory studies show T-cell lymphopenia and may show variable B-cell or immunoglobulin abnormalities. More variable features found in some patients include lymphoma and neurologic features. Although bone marrow transplantation may be curative, many patients die in childhood (summary by Lyszkiewicz et al., 2020).