Congenital microvillous atrophy- MedGen UID:
- 137954
- •Concept ID:
- C0341306
- •
- Disease or Syndrome
Diarrhea-2 with microvillus atrophy, with or without cholestasis (DIAR2) is characterized by onset of intractable life-threatening watery diarrhea during infancy. Two forms are recognized: early-onset microvillus inclusion disease (MVID) with diarrhea beginning in the neonatal period, and late-onset, with first symptoms appearing after 3 or 4 months of life. Definite diagnosis is made by transmission electron microscopy demonstrating shortening or absence of apical microvilli with pathognomonic microvillus inclusions in mature enterocytes and peripheral accumulation of periodic acid-Schiff (PAS)-positive granules or vesicles in immature enterocytes (Muller et al., 2008). The natural course of MVID is often fatal, but partial or total weaning from parenteral nutrition has been described.
For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700).
Immunodeficiency 25- MedGen UID:
- 346666
- •Concept ID:
- C1857798
- •
- Disease or Syndrome
Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene.
MHC class II deficiency- MedGen UID:
- 444051
- •Concept ID:
- C2931418
- •
- Disease or Syndrome
A rare autosomal recessive primary immunodeficiency characterized by absence of HLA class II molecules on the surface of immune cells, leading to severely impaired cellular and humoral immune response to foreign antigens, severe CD4+ T-cell lymphopenia, and hypogammaglobulinemia. The disease clinically manifests with early onset of severe and recurrent infections mainly of the respiratory and gastrointestinal tract, protracted diarrhea with failure to thrive, and autoimmune disease, and is frequently fatal in childhood.
Severe combined immunodeficiency due to LCK deficiency- MedGen UID:
- 862670
- •Concept ID:
- C4014233
- •
- Disease or Syndrome
A rare, combined T- and B-cell immunodeficiency characterized by failure to thrive, severe diarrhea, opportunistic infections, and abnormal T-cell differentiation and function due to LCK deficiency, leading to an important risk factor for inflammation and autoimmunity.