From HPO
Immunodeficiency- MedGen UID:
- 7034
- •Concept ID:
- C0021051
- •
- Disease or Syndrome
Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
Wheezing- MedGen UID:
- 21917
- •Concept ID:
- C0043144
- •
- Sign or Symptom
A high-pitched whistling sound associated with labored breathing.
Recurrent sinusitis- MedGen UID:
- 107919
- •Concept ID:
- C0581354
- •
- Disease or Syndrome
A recurrent form of sinusitis.
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 oral herpes- MedGen UID:
- 697662
- •Concept ID:
- C1274321
- •
- Disease or Syndrome
Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus.
Reduced total natural killer cell count- MedGen UID:
- 383765
- •Concept ID:
- C1855767
- •
- Finding
The absolute count of natural killer cells in the blood, per microlitre, is below the lower limit of normal.
Recurrent respiratory infections- MedGen UID:
- 812812
- •Concept ID:
- C3806482
- •
- Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Abnormal natural killer cell physiology- MedGen UID:
- 868613
- •Concept ID:
- C4023012
- •
- Pathologic Function
Abnormal response of natural killer (NK) cells to stimuli.
BCGitis- MedGen UID:
- 1684722
- •Concept ID:
- C5139070
- •
- Disease or Syndrome
Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination.
Severe varicella zoster infection- MedGen UID:
- 1688785
- •Concept ID:
- C5139168
- •
- Disease or Syndrome
An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterized by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestations including VZV pneumonia, hepatitis, meningitis, and disseminated varicella.
Recurrent viral upper respiratory tract infections- MedGen UID:
- 1739717
- •Concept ID:
- C5421654
- •
- Finding
An increased susceptibility to viral upper respiratory tract infections as manifested by a history of recurrent viral upper respiratory tract infections (otitis, sinusitis, pharyngitis, tonsillitis).