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

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency


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
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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: 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

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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Last updated: 7/1/2020

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

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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