From HPO
Cellulitis- MedGen UID:
- 40174
- •Concept ID:
- C0007642
- •
- Disease or Syndrome
A bacterial infection and inflammation of the skin und subcutaneous tissues.
Recurrent upper respiratory tract infections- MedGen UID:
- 154380
- •Concept ID:
- C0581381
- •
- Disease or Syndrome
An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
Atopic eczema- MedGen UID:
- 41502
- •Concept ID:
- C0011615
- •
- Disease or Syndrome
Atopic dermatitis (ATOD), also known as eczema, is a common chronic pruritic inflammatory skin disease with a strong genetic component. Onset typically occurs during the first 2 years of life (review by Soderhall et al., 2007).
Genetic Heterogeneity of Atopic Dermatitis
Many inflammatory diseases, such as atopic eczema, are genetically complex, with multiple alleles at several loci thought to be involved in their pathogenesis. Several susceptibility loci for atopic dermatitis have been identified: ATOD1 on chromosome 3q21, ATOD2 (605803) on chromosome 1q21, ATOD3 (605804) on chromosome 20p, ATOD4 (605805) on chromosome 17q25.3, ATOD5 (603165) on chromosome 13q12-q14, ATOD6 (605845) on chromosome 5q31-q33, ATOD7 (613064) on chromosome 11q13.5, ATOD8 (613518) on chromosome 4q22.1, and ATOD9 (613519) on chromosome 3p24.
Cutaneous abscess- MedGen UID:
- 450991
- •Concept ID:
- C0149777
- •
- Pathologic Function
A circumscribed area of pus or necrotic debris in the skin.
Increased circulating IgE level- MedGen UID:
- 116018
- •Concept ID:
- C0236175
- •
- Finding
An abnormally increased overall level of immunoglobulin E in blood.
Decreased circulating total IgM- MedGen UID:
- 116095
- •Concept ID:
- C0239989
- •
- Finding
An abnormally decreased level of immunoglobulin M (IgM) in blood.
Recurrent otitis media- MedGen UID:
- 155436
- •Concept ID:
- C0747085
- •
- Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Recurrent skin infections- MedGen UID:
- 377848
- •Concept ID:
- C1853193
- •
- Disease or Syndrome
Infections of the skin that happen multiple times.
Decreased proportion of class-switched memory B cells- MedGen UID:
- 892709
- •Concept ID:
- C4072925
- •
- Finding
A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.
Increased circulating interleukin 6 concentration- MedGen UID:
- 901461
- •Concept ID:
- C4280771
- •
- Finding
The concentration of interleukin-6 in the blood circulation is above the upper limit of normal.
Decreased circulating IgG level- MedGen UID:
- 1720114
- •Concept ID:
- C5234937
- •
- Finding
An abnormally decreased level of immunoglobulin G (IgG) in blood.
Reduced circulating C-reactive protein concecntration- MedGen UID:
- 1704066
- •Concept ID:
- C5139347
- •
- Finding
An abnormal decrease of the C-reactive protein level in serum.
Inappropriate absence of fever- MedGen UID:
- 1745742
- •Concept ID:
- C5421614
- •
- Finding
Failure to develop fever in the presence of an infection that normally would be expected to elicit a febrile response.
- Abnormality of metabolism/homeostasis
- Abnormality of the immune system
- Abnormality of the musculoskeletal system
- Abnormality of the respiratory system