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Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome

MedGen UID:: 461506
•Concept ID:: C3150156
•: Disease or Syndrome

Synonym:	Immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis

Monarch Initiative:	MONDO:0012757
OMIM®:	611926
Orphanet:	ORPHA137631

Definition

Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies. [from ORDO]

Clinical features

From HPO

Gonadal dysgenesis

MedGen UID:: 9075
•Concept ID:: C0018051
•: Congenital Abnormality

A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics.

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Atrial septal defect, ostium secundum type

MedGen UID:: 91034
•Concept ID:: C0344724
•: Congenital Abnormality

A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.

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Pulmonary fibrosis

MedGen UID:: 11028
•Concept ID:: C0034069
•: Disease or Syndrome

Replacement of normal lung tissues by fibroblasts and collagen.

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Immunodeficiency

MedGen UID:: 7034
•Concept ID:: C0021051
•: Disease or Syndrome

Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.

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Decreased circulating IgA level

MedGen UID:: 57934
•Concept ID:: C0162538
•: Disease or Syndrome

Decreased levels of immunoglobulin A (IgA).

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Decreased circulating total IgM

MedGen UID:: 116095
•Concept ID:: C0239989
•: Finding

An abnormally decreased level of immunoglobulin M (IgM) in blood.

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Abnormal thymus morphology

MedGen UID:: 852464
•Concept ID:: C0262650
•: Finding

Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation.

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Absent tonsils

MedGen UID:: 154366
•Concept ID:: C0576999
•: Finding

Lack of observable tonsillar tissue.

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Decreased proportion of CD8-positive T cells

MedGen UID:: 374188
•Concept ID:: C1839305
•: Finding

A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells.

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Abnormality of the tonsils

MedGen UID:: 867590
•Concept ID:: C4021975
•: Anatomical Abnormality

An abnormality of the tonsils.

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Decreased circulating IgG level

MedGen UID:: 1720114
•Concept ID:: C5234937
•: Finding

An abnormally decreased level of immunoglobulin G (IgG) in blood.

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Decreased proportion of CD4-positive helper T cells

MedGen UID:: 1719772
•Concept ID:: C5235140
•: Finding

A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count.

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Abnormality of the cardiovascular system
- Atrial septal defect, ostium secundum type
Abnormality of the genitourinary system
- Gonadal dysgenesis
Abnormality of the immune system
Abnormality of the respiratory system
- Pulmonary fibrosis

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVLung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome

Genetic interstitial lung disease
- Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome

Follow this link to review classifications for Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome in Orphanet.

Recent clinical studies

Etiology

Fatal lung fibrosis associated with immunodeficiency and gonadal dysgenesis in 46XX sisters--a new syndrome.

Somech R, Somers GR, Chitayat D, Grunebaum E, Atkinson A, Kolomietz E, Roifman CM
Am J Med Genet A 2008 Jan 1;146A(1):8-14. doi: 10.1002/ajmg.a.32014. PMID: 17937424

See all (1)

Prognosis

Fatal lung fibrosis associated with immunodeficiency and gonadal dysgenesis in 46XX sisters--a new syndrome.

Somech R, Somers GR, Chitayat D, Grunebaum E, Atkinson A, Kolomietz E, Roifman CM
Am J Med Genet A 2008 Jan 1;146A(1):8-14. doi: 10.1002/ajmg.a.32014. PMID: 17937424

See all (1)

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Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Prognosis

Supplemental Content

Table of contents

Clinical resources

Molecular resources

Consumer resources

Reviews

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