Rare Medical News

Disease Profile

LRBA deficiency

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

no.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

no.svg

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

no.svg

Other names (AKA)

Combined immunodeficiency due to LRBA deficiency; CID due to LRBA deficiency; Common variable immunodeficiency-8 (CVID8) with autoimmunity;

Categories

Congenital and Genetic Diseases; Digestive Diseases; Endocrine Diseases;

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 445018

Definition
A rare, genetic, primary immunodeficiency characterized by early onset of recurrent respiratory infections and variable combination of autoimmune disorders, including hemolytic anemia, thrombocytopenic purpura, lymphoproliferative disease, inflammatory bowel disease, colitis, diabetes, arthritis, and dermatitis. Failure to thrive, hepatosplenomegaly and endocrine abnormalities have also been associated. Variable immunologic findings include deficiency of CD4+ T regulatory cells, decreased B-cells, and hypogammaglobulinemia.

Visit the Orphanet disease page for more resources.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
1%-4% of people have these symptoms
Arthritis
Joint inflammation
0001369
Asthma
0002099
Autoimmune hemolytic anemia
0001890
Autoimmune thrombocytopenia
0001973
B lymphocytopenia
Low B cell count
0010976
Bronchiectasis
Permanent enlargement of the airways of the lungs
0002110
Chronic atrophic gastritis
0002582
Chronic diarrhea
0002028
Chronic lung disease
0006528
Chronic neutropenia
0410252
Clubbing of fingers
Clubbed fingers
Clubbing (hands)
Finger clubbing

[ more ]

0100759
Colitis
0002583
Conjunctivitis
Pink eye
0000509
Decreased circulating IgA level
0002720
Decreased circulating IgG level
0004315
Decreased circulating total IgM
0002850
Decreased proportion of class-switched memory B cells
0030388
Decreased specific antibody response to vaccination
0032140
Erythema nodosum
0012219
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Generalized lymphadenopathy
Generalized swelling of lymph nodes
Swollen lymph nodes affecting all regions of the body

[ more ]

0008940
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth

[ more ]

0001510
Hypothyroidism
Underactive thyroid
0000821
Lymphoma
Cancer of lymphatic system
0002665
Lymphoproliferative disorder
0005523
Pancytopenia
Low blood cell count
0001876
Psoriasiform lesion
0025526
Recurrent otitis media
Recurrent middle ear infection
0000403
Recurrent pneumonia
0006532
Recurrent sinusitis
0011108
Sepsis
Infection in blood stream
0100806
Splenomegaly
Increased spleen size
0001744
Thyroiditis
Thyroid gland inflammation
0100646
Type I diabetes mellitus
Type 1 diabetes
Type I diabetes

[ more ]

0100651
Uveitis
0000554
Villous atrophy
0011473
Vitiligo
Blotchy loss of skin color
0001045
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Immunodeficiency
Decreased immune function
0002721

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.