From HPO
Failure to thrive- MedGen UID:
- 746019
- •Concept ID:
- C2315100
- •
- Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Intestinal obstruction- MedGen UID:
- 43933
- •Concept ID:
- C0021843
- •
- Disease or Syndrome
Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal.
Chronic diarrhea- MedGen UID:
- 96036
- •Concept ID:
- C0401151
- •
- Finding
The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
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).
Recurrent lower respiratory tract infections- MedGen UID:
- 756211
- •Concept ID:
- C3163798
- •
- Disease or Syndrome
An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
Lymphopenia- MedGen UID:
- 7418
- •Concept ID:
- C0024312
- •
- Disease or Syndrome
A reduced number of lymphocytes in the blood.
Meningitis- MedGen UID:
- 6298
- •Concept ID:
- C0025289
- •
- Disease or Syndrome
Inflammation of the meninges.
Pneumonia- MedGen UID:
- 10813
- •Concept ID:
- C0032285
- •
- Disease or Syndrome
Inflammation of any part of the lung parenchyma.
Severe combined immunodeficiency disease- MedGen UID:
- 88328
- •Concept ID:
- C0085110
- •
- Disease or Syndrome
A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.
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.
Panhypogammaglobulinemia- MedGen UID:
- 233072
- •Concept ID:
- C1328587
- •
- Finding
A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes.
Abnormality of B cell physiology- MedGen UID:
- 341411
- •Concept ID:
- C1849242
- •
- Finding
An abnormality of the physiological functioning of B cells.
Cutaneous anergy- MedGen UID:
- 344575
- •Concept ID:
- C1855781
- •
- Finding
Inability to react to a delayed hypersensitivity skin test.
T lymphocytopenia- MedGen UID:
- 419385
- •Concept ID:
- C2931322
- •
- Finding
An abnormally low count of T cells.
Impaired lymphocyte transformation with phytohemagglutinin- MedGen UID:
- 871152
- •Concept ID:
- C4025625
- •
- Finding
Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes.
Absent natural killer cells- MedGen UID:
- 892985
- •Concept ID:
- C4073163
- •
- Finding
Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis.
Decreased lymphocyte proliferation in response to anti-CD3- MedGen UID:
- 1614554
- •Concept ID:
- C4531165
- •
- Finding
A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3.
Absent peripheral lymph nodes in presence of infection- MedGen UID:
- 1780141
- •Concept ID:
- C5539700
- •
- Finding
The absence of any palpable lymph nodes in the presence of symptoms suggesting infection in that drainage area should raise suspicion for immunodeficiency diseases.
- Abnormality of the digestive system
- Abnormality of the immune system
- Abnormality of the respiratory system
- Growth abnormality