Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

Title

Other Names:

ALPS due to CTLA4 haploinsuffiency; ALPS type 5; ALPS type V; ALPS due to CTLA4 haploinsuffiency; ALPS type 5; ALPS type V; Autoimmune lymphoproliferative syndrome type 5; Autoimmune lymphoproliferative syndrome type V; CHAI; CTLA-4 haploinsufficiency with autoimmune infiltration disease; Autoimmune lymphoproliferative syndrome, type V; CTLA4 Haploinsufficiency with autoimmune infiltration See More

Categories:

Congenital and Genetic Diseases; Digestive Diseases; Immune System Diseases

Summary Summary

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

Orpha Number: 436159

Definition

A rare, primary immunodeficiency characterized by variable combination of enteropathy, hypogammaglobulinemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune hemolytic anemia and lymphadenopathy.

Visit the Orphanet disease page for more resources.

Last updated: 8/1/2018

Symptoms 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.

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Medical Terms	Other Names	Learn More: HPO ID
1%-4% of people have these symptoms
Allergy		0012393
Arthritis	Joint inflammation	0001369
Autoimmune hemolytic anemia		0001890
Autoimmune thrombocytopenia		0001973
Bronchiectasis	Permanent enlargement of the airways of the lungs	0002110
Chronic atrophic gastritis		0002582
Crohn's disease		0100280
Decreased circulating IgA level		0002720
Decreased circulating IgG level		0004315
Decreased circulating total IgM		0002850
Diarrhea	Watery stool	0002014
Eczema		0000964
Hepatomegaly	Enlarged liver	0002240
Lymphadenopathy	Swollen lymph nodes	0002716
Lymphopenia	Decreased blood lymphocyte number Low lymphocyte number [ more ]	0001888
Psoriasiform dermatitis		0003765
Recurrent lower respiratory tract infections	Recurrent chest infections	0002783
Recurrent upper respiratory tract infections	Recurrent colds	0002788
Sepsis	Infection in blood stream	0100806
Splenomegaly	Increased spleen size	0001744
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance		0000006
Immunodeficiency	Decreased immune function	0002721
Incomplete penetrance		0003829
Lymphocytic infiltration of the colorectal mucosa		0032216

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 9/1/2020

Do you have updated information on this disease? We want to hear from you.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

Registries for Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency:
European Society for Immunodeficiencies (ESID) Registry
United States Immunodeficiency Network (USIDENT) Registry

Learn More 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.

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