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Hypohidrotic ectodermal dysplasia with immune deficiency(HED-ID)

MedGen UID:
375786
Concept ID:
C1846006
Disease or Syndrome
Synonyms: HED-ID
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)
SNOMED CT: Hypohidrotic ectodermal dysplasia with immune deficiency (703525006); Hyper-IgM immunodeficiency with hypohidrotic ectodermal dysplasia (703525006); Anhidrotic ectodermal dysplasia with immune deficiency (703525006)
 
Gene (location): IKBKG (Xq28)
OMIM®: 300291

Definition

Hypohidrotic ectodermal dysplasia (HED; 305100), a congenital disorder of teeth, hair, and eccrine sweat glands, is usually inherited as an X-linked recessive trait, although rarer autosomal dominant (129490) and autosomal recessive (224900) forms exist. [from OMIM]

Additional description

From GHR
Anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID) is a form of ectodermal dysplasia, which is a group of conditions characterized by abnormal development of ectodermal tissues including the skin, hair, teeth, and sweat glands. In addition, immune system function is reduced in people with EDA-ID. The signs and symptoms of EDA-ID are evident soon after birth.Skin abnormalities in people with EDA-ID include areas that are dry, wrinkled, or darker in color than the surrounding skin. Affected individuals tend to have sparse scalp and body hair (hypotrichosis). EDA-ID is also characterized by missing teeth (hypodontia) or teeth that are small and pointed. Most people with EDA-ID have a reduced ability to sweat (hypohidrosis) because they have fewer sweat glands than normal or their sweat glands do not function properly. An inability to sweat (anhidrosis) can lead to a dangerously high body temperature (hyperthermia), particularly in hot weather.The immune deficiency in EDA-ID varies among people with this condition. People with EDA-ID often produce abnormally low levels of proteins called antibodies or immunoglobulins. Antibodies help protect the body against infection by attaching to specific foreign particles and germs, marking them for destruction. A reduction in antibodies makes it difficult for people with this disorder to fight off infections. In EDA-ID, immune system cells called T cells and B cells have a decreased ability to recognize and respond to foreign invaders (such as bacteria, viruses, and yeast) that have sugar molecules attached to their surface (glycan antigens). Other key aspects of the immune system may also be impaired, leading to recurrent infections.People with EDA-ID commonly get infections in the lungs (pneumonia), ears (otitis media), sinuses (sinusitis), lymph nodes (lymphadenitis), skin, bones, and GI tract. Approximately one quarter of individuals with EDA-ID have disorders involving abnormal inflammation, such as inflammatory bowel disease or rheumatoid arthritis.The life expectancy of affected individuals depends of the severity of the immune deficiency; most people with this condition do not live past childhood.There are two forms of this condition that have similar signs and symptoms and are distinguished by the modes of inheritance: X-linked recessive or autosomal dominant.  https://ghr.nlm.nih.gov/condition/anhidrotic-ectodermal-dysplasia-with-immune-deficiency

Clinical features

Dysgammaglobulinemia
MedGen UID:
41679
Concept ID:
C0013374
Disease or Syndrome
Selective deficiency of one or more, but not all, classes of immunoglobulins.
Dysgammaglobulinemia
MedGen UID:
41679
Concept ID:
C0013374
Disease or Syndrome
Selective deficiency of one or more, but not all, classes of immunoglobulins.
Recurrent infections
MedGen UID:
65998
Concept ID:
C0239998
Finding
Increased susceptibility to microbial infections, as manifested by recurrent episodes of infection.
Immunodeficiency
MedGen UID:
505335
Concept ID:
CN002471
Finding
Dysgammaglobulinemia
MedGen UID:
41679
Concept ID:
C0013374
Disease or Syndrome
Selective deficiency of one or more, but not all, classes of immunoglobulins.
Ectodermal dysplasia
MedGen UID:
8544
Concept ID:
C0013575
Congenital Abnormality
Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypohidrotic ectodermal dysplasia with immune deficiency

Recent clinical studies

Diagnosis

Verlinsky Y, Rechitsky S, Sharapova T, Laziuk K, Barsky I, Verlinsky O, Tur-Kaspa I, Kuliev A
Reprod Biomed Online 2007 Feb;14(2):214-23. PMID: 17298726
Kuliev A, Rechitsky S, Tur-Kaspa I, Verlinsky Y
Ann N Y Acad Sci 2005;1054:223-7. doi: 10.1196/annals.1345.028. PMID: 16339669
Kuliev A, Verlinsky Y
Reprod Biomed Online 2004 Aug;9(2):205-9. PMID: 15354311
Bruckner AL
Semin Cutan Med Surg 2004 Jun;23(2):116-24. doi: 10.1016/j.sder.2004.01.005. PMID: 15295921
Mansour S, Woffendin H, Mitton S, Jeffery I, Jakins T, Kenwrick S, Murday VA
Am J Med Genet 2001 Mar 1;99(2):172-7. PMID: 11241484

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