Rare diseases · Sign or symptom
Immunodeficiency
Decreased immune function
HP:0002721
What it means
Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
Rare diseases that can present with this88
Very common80–99%
33- 22q11.2deletion syndrome
- Alopecia antibody deficiency
- Alpha-mannosidosis, infantile form
- Ataxia-telangiectasia
- Attenuated Chédiak-Higashi syndrome
- Atypical/leaky severe combined immunodeficiency due to partial RAG defect
- Autosomal non-syndromic agammaglobulinemia
- Combined immunodeficiency due to CRAC channel dysfunction
- Developmental malformations-deafness-dystonia syndrome
- Felty syndrome
- Glycogen storage disease due to glycogen debranching enzyme deficiency
- Griscelli syndrome type 2
- Hemoglobin E-beta-thalassemia syndrome
- Hermansky-Pudlak syndrome
- Hoyeraal-Hreidarsson syndrome
- ICF syndrome
- Infantile LAD-like disease due to RAC2 deficiency
- Infantile systemic hyalinosis
- LIG4 syndrome
- Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
- Nodular lymphocyte predominant Hodgkin lymphoma
- Non-syndromic agammaglobulinemia
- Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency
- Progeria-short stature-pigmented nevi syndrome
- Progressive multifocal leukoencephalopathy
- RIDDLE syndrome
- Scedosporiosis
- T-B+NK+ severe combined immunodeficiency due to FOXN1 deficiency
- Transient predisposition to invasive pyogenic bacterial infection
- Trichohepatoenteric syndrome
- Wiskott-Aldrich syndrome
- X-linked agammaglobulinemia
- X-linked lymphoproliferative disease due to XIAP deficiency
Common30–79%
25- AIDS wasting syndrome
- Alpha-heavy chain disease
- Aspergillosis
- Chédiak-Higashi syndrome
- Coccidioidomycosis
- Combined immunodeficiency-multiple intestinal atresia
- Cryptococcosis
- Cushing disease
- Cushing syndrome due to ectopic ACTH secretion
- Fusariosis
- Griscelli syndrome
- Ichthyosis follicularis-alopecia-photophobia syndrome
- Kaposi sarcoma
- Malakoplakia
- Maternal uniparental disomy of chromosome 6 syndrome
- Microsporidiosis
- Nocardiosis
- Phelan-McDermid syndrome
- Pneumocystosis
- Primary effusion lymphoma
- Pulmonary non-tuberculous mycobacterial infection
- Severe acute respiratory syndrome
- Sézary syndrome
- STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
- Vitamin B12-unresponsive methylmalonic acidemia type mut-
Sometimes5–29%
22- Acquired partial lipodystrophy
- Acute transverse myelitis
- ALG1-CDG
- Alpha-mannosidosis, adult form
- Alpha-thalassemia-myelodysplastic syndrome
- Amoebiasis due to free-living amoebae
- Cernunnos-XLF deficiency
- Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion
and 14 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Immune deficiency
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.