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Immunodeficiency without anhidrotic ectodermal dysplasia

MedGen UID:
337162
Concept ID:
C1845117
Disease or Syndrome
Synonyms: Immunodeficiency, isolated; Immunodeficiency, pure
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
X-linked recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): IKBKG (Xq28)
OMIM®: 300584

Clinical features

Immunodeficiency
MedGen UID:
7034
Concept ID:
C0021051
Disease or Syndrome
Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.
Impaired memory B-cell generation
MedGen UID:
871195
Concept ID:
C4025672
Cell or Molecular Dysfunction
Impaired production of memory cells, the B-cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge.
Impaired memory B-cell generation
MedGen UID:
871195
Concept ID:
C4025672
Cell or Molecular Dysfunction
Impaired production of memory cells, the B-cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge.

Recent clinical studies

Diagnosis

Adam P, Bonzheim I, Fend F, Quintanilla-Martínez L
Adv Anat Pathol 2011 Sep;18(5):349-55. doi: 10.1097/PAP.0b013e318229bf08. PMID: 21841405

Prognosis

Adam P, Bonzheim I, Fend F, Quintanilla-Martínez L
Adv Anat Pathol 2011 Sep;18(5):349-55. doi: 10.1097/PAP.0b013e318229bf08. PMID: 21841405

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