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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:
425042
Concept ID:
CN001297
Genetic Function
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.
 
Gene: IKBKG
Cytogenetic location: Xq28
OMIM®: 300584

Clinical features

Anhidrotic ectodermal dysplasia
MedGen UID:
506076
Concept ID:
CN006554
Finding
IgA deficiency
MedGen UID:
107506
Concept ID:
C0553533
Finding
IgG deficiency
MedGen UID:
340968
Concept ID:
C1855798
Finding
Impaired memory B-cell generation
MedGen UID:
500941
Concept ID:
CN002572
Finding
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.
Increased IgM level
MedGen UID:
505550
Concept ID:
CN003154
Finding
An abnormally increased level of immunoglobulin M in blood.
IgA deficiency
MedGen UID:
107506
Concept ID:
C0553533
Finding
IgG deficiency
MedGen UID:
340968
Concept ID:
C1855798
Finding
Impaired memory B-cell generation
MedGen UID:
500941
Concept ID:
CN002572
Finding
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.
Increased IgM level
MedGen UID:
505550
Concept ID:
CN003154
Finding
An abnormally increased level of immunoglobulin M in blood.
IgA deficiency
MedGen UID:
107506
Concept ID:
C0553533
Finding
IgG deficiency
MedGen UID:
340968
Concept ID:
C1855798
Finding
Immunodeficiency
MedGen UID:
505335
Concept ID:
CN002471
Finding
Impaired memory B-cell generation
MedGen UID:
500941
Concept ID:
CN002572
Finding
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.
Increased IgM level
MedGen UID:
505550
Concept ID:
CN003154
Finding
An abnormally increased level of immunoglobulin M in blood.
Recurrent mycobacterium avium complex infections
MedGen UID:
489099
Concept ID:
CN167003
Finding
Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection.

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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