National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

LRBA deficiency

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Other Names:
Combined immunodeficiency due to LRBA deficiency; CID due to LRBA deficiency; Common variable immunodeficiency-8 (CVID8) with autoimmunity; Combined immunodeficiency due to LRBA deficiency; CID due to LRBA deficiency; Common variable immunodeficiency-8 (CVID8) with autoimmunity; LATAIE disease; LRBA deficiency with Autoantibodies, regulatory T cell defects, Autoimmune Infiltration, and Enteropathy See More
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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.
Last updated: 3/1/2019

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.

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Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Neutropenia
Low blood neutrophil count
Low neutrophil count
[ more ] 		0001875
Pancytopenia
Low blood cell count
0001876
Percent of people who have these symptoms is not available through HPO
Arthritis
Joint inflammation
0001369
Asthma 0002099
Autoimmune hemolytic anemia 0001890
Autosomal recessive inheritance 0000007
Bronchiectasis
Permanent enlargement of the airways of the lungs
0002110
Chronic diarrhea 0002028
Chronic lung disease 0006528
Clubbing of fingers
Clubbed fingers
Clubbing (hands)
Finger clubbing
[ more ] 		0100759
Colitis 0002583
Conjunctivitis
Pink eye
0000509
Decreased circulating IgA level 0002720
Decreased circulating total IgM 0002850
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Gastritis
Stomach inflammation
0005263
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] 		0001510
Hypothyroidism
Underactive thyroid
0000821
Immunodeficiency
Decreased immune function
0002721
Lymphadenopathy
Swollen lymph nodes
0002716
Pneumonia 0002090
Progressive
Worsens with time
0003676
Recurrent otitis media
Recurrent middle ear infection
0000403
Recurrent sinusitis 0011108
Thrombocytopenia
Low platelet count
0001873
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Last updated: 7/1/2020

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.

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