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Absent peripheral lymph nodes in presence of infection

MedGen UID:
1780141
Concept ID:
C5539700
Finding
HPO: HP:0033581

Definition

The absence of any palpable lymph nodes in the presence of symptoms suggesting infection in that drainage area should raise suspicion for immunodeficiency diseases. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbsent peripheral lymph nodes in presence of infection

Conditions with this feature

T-B+ severe combined immunodeficiency due to JAK3 deficiency
MedGen UID:
331474
Concept ID:
C1833275
Disease or Syndrome
JAK3-deficient severe combined immunodeficiency (SCID) is an inherited disorder of the immune system. Individuals with JAK3-deficient SCID lack the necessary immune cells to fight off certain bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. Often the organisms that cause infection in people with JAK3-deficient SCID are described as opportunistic because they ordinarily do not cause illness in healthy people. Affected infants typically develop chronic diarrhea, a fungal infection in the mouth called oral thrush, pneumonia, and skin rashes. Persistent illness also causes affected individuals to grow more slowly than other children. Without treatment, people with JAK3-deficient SCID usually live only into early childhood.

Recent clinical studies

Prognosis

Asano S, Akaike Y, Muramatsu T, Wakasa H, Yoshida H, Kondou R, Kojima M, Jyoushita T
Virchows Arch A Pathol Anat Histopathol 1991;418(3):215-23. doi: 10.1007/BF01606059. PMID: 1900967
Asano S, Akaike Y, Jinnouchi H, Muramatsu T, Wakasa H
Hematol Oncol 1990 Sep-Oct;8(5):251-60. doi: 10.1002/hon.2900080503. PMID: 2249796

Clinical prediction guides

Melville DM, Jacobson JA, Downie B, Biermann JS, Kim SM, Yablon CM
J Ultrasound Med 2015 Mar;34(3):387-94. doi: 10.7863/ultra.34.3.387. PMID: 25715359
Asano S, Akaike Y, Muramatsu T, Wakasa H, Yoshida H, Kondou R, Kojima M, Jyoushita T
Virchows Arch A Pathol Anat Histopathol 1991;418(3):215-23. doi: 10.1007/BF01606059. PMID: 1900967
Asano S, Akaike Y, Jinnouchi H, Muramatsu T, Wakasa H
Hematol Oncol 1990 Sep-Oct;8(5):251-60. doi: 10.1002/hon.2900080503. PMID: 2249796
Osborne BM, Guarda LA, Butler JJ
Hum Pathol 1984 Nov;15(11):1048-53. doi: 10.1016/s0046-8177(84)80248-8. PMID: 6490000

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