Rare diseases that primarily involve the immunologic system. Each links to its full hub — overview, specialists, clinical trials, medications and community.
How this grouping is built. These conditions are grouped by a clinical keyword match on the disease name — the same conservative classifier Tomeko uses to pick each hub’s system motif. It is a Tomeko working grouping, not an official Orphanet organ classification, and some conditions affect more than one system. Every condition is itself catalogued from NIH GARD (Genetic and Rare Diseases Information Center) and Orphanet (orpha.net), and each hub cites its own sources. Sorted A→Z by name · 280 conditions · last built 2026-08-30.
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A67
- Acquired Adult-Onset Immunodeficiency
- Acquired Immunodeficiency
- Activated PI3K-Delta Syndrome
- Agammaglobulinemia
- Agammaglobulinemia 10, Autosomal Dominant
- Agammaglobulinemia 2, Autosomal Recessive
- Agammaglobulinemia 3, Autosomal Recessive
- Agammaglobulinemia 4, Autosomal Recessive
- Agammaglobulinemia 5, Autosomal Dominant
- Agammaglobulinemia 6, Autosomal Recessive
- Agammaglobulinemia 7, Autosomal Recessive
- Agammaglobulinemia 8, Autosomal Dominant
- Agammaglobulinemia 8b, Autosomal Recessive
- Agammaglobulinemia 9, Autosomal Recessive
- Agammaglobulinemia, Autosomal Recessive, Due To BOB1 Deficiency
- Atypical Lymphoproliferative Disorder
- Autoimmune Bullous Skin Disease
- Autoimmune Cholangitis
- Autoimmune Encephalitis
- Autoimmune Enteropathy
- Autoimmune Enteropathy And Endocrinopathy - Susceptibility To Chronic Infections Syndrome
- Autoimmune Hepatitis
- Autoimmune Hepatitis Type 1
- Autoimmune Hepatitis Type 2
- Autoimmune Hepatitis Type 3
- Autoimmune Hypoparathyroidism
- Autoimmune Limbic Encephalitis
- Autoimmune Lymphoproliferative Syndrome
- Autoimmune Lymphoproliferative Syndrome Due To CTLA4 Haploinsufficiency
- Autoimmune Lymphoproliferative Syndrome Type 1
- Autoimmune Lymphoproliferative Syndrome Type 2A
- Autoimmune Lymphoproliferative Syndrome Type 2B
- Autoimmune Lymphoproliferative Syndrome Type 4
- Autoimmune Lymphoproliferative Syndrome, Type III Caused By Mutation In PRKCD
- Autoimmune Lymphoproliferative Syndrome-Unknown Underlying Mutation
- Autoimmune Myocarditis
- Autoimmune Optic Neuritis
- Autoimmune Pancreatitis
- Autoimmune Pancreatitis Type 1
- Autoimmune Pancreatitis Type 2
- Autoimmune Polyendocrinopathy
- Autoimmune Polyendocrinopathy Type 3
- Autoimmune Polyendocrinopathy Type 4
- Autoimmune Uveitis
- Autoimmune Vasculitis
- Autoinflammation With Episodic Fever And Lymphadenopathy
- Autoinflammation-PLCG2-Associated Antibody Deficiency-Immune Dysregulation
- Autoinflammatory Disease, Multisystem, With Immune Dysregulation, X-Linked
- Autoinflammatory Disease, Systemic, With Vasculitis
- Autoinflammatory Disease, X-Linked
- Autoinflammatory Syndrome With Immunodeficiency
- Autoinflammatory Syndrome With Pyogenic Bacterial Infection And Amylopectinosis
- Autoinflammatory Syndrome, Familial, Behcet-Like
- Autoinflammatory Syndrome, Familial, Behcet-Like 1
- Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
- Autoinflammatory Syndrome due To TBK1 Deficiency
- Autosomal Agammaglobulinemia
- Autosomal Dominant Combined Immunodeficiency Due To ERBIN Deficiency
- Autosomal Dominant Combined Immunodeficiency Due To Partial IL6ST Deficiency
- Autosomal Dominant Mendelian Susceptibility To Mycobacterial Diseases Due To Partial IFNgammaR1 Deficiency
- Autosomal Recessive Agammaglobulinemia 1
- Autosomal Recessive Combined Immunodeficiency Due To Complete IL6ST Deficiency
- Autosomal Recessive Combined Immunodeficiency Due To IL6R Deficiency
- Autosomal Recessive Combined Immunodeficiency Due To Partial IL6ST Deficiency
- Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Complete IFNgammaR2 Deficiency
- Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial IFNgammaR1 Deficiency
- Autosomal Recessive Primary Immunodeficiency With Defective Spontaneous Natural Killer Cell Cytotoxicity
B1
C31
- CEBPE-Associated Autoinflammation-Immunodeficiency-Neutrophil Dysfunction Syndrome
- Centromeric Instability Of Chromosomes 1,9 And 16 And Immunodeficiency
- Chronic Lymphoproliferative Disorder Of NK-Cells
- Combined Immunodeficiency
- Combined Immunodeficiency Due To CD3gamma Deficiency
- Combined Immunodeficiency Due To CRAC Channel Dysfunction
- Combined Immunodeficiency Due To CTPS1 Deficiency
- Combined Immunodeficiency Due To DOCK8 Deficiency
- Combined Immunodeficiency Due To LRBA Deficiency
- Combined Immunodeficiency Due To MALT1 Deficiency
- Combined Immunodeficiency Due To Moesin Deficiency
- Combined Immunodeficiency Due To ORAI1 Deficiency
- Combined Immunodeficiency Due To OX40 Deficiency
- Combined Immunodeficiency Due To Partial RAG1 Deficiency
- Combined Immunodeficiency Due To POLE2 Deficiency
- Combined Immunodeficiency Due To RELA Haploinsufficiency
- Combined Immunodeficiency Due To STIM1 Deficiency
- Combined Immunodeficiency Due To STK4 Deficiency
- Combined Immunodeficiency Due To TBX1 Deficiency
- Combined Immunodeficiency Due To ZAP70 Deficiency
- Combined Immunodeficiency Syndrome
- Combined Immunodeficiency With Faciooculoskeletal Anomalies
- Combined Immunodeficiency With Skin Granulomas
- Combined Immunodeficiency, X-Linked
- Common Variable Immunodeficiency
- Complement Component 2 Deficiency
- Congenital Agammaglobulinemia
- Congenital Disorder Of Glycosylation Type 1EE With Or Without Immunodeficiency
- Congenital T-Cell Immunodeficiency
- Cryopyrin Associated Periodic Syndrome
- Cryptosporidiosis-Chronic Cholangitis-Liver Disease Syndrome
D3
E4
F11
- F12-Associated Cold Autoinflammatory Syndrome
- Facial Dysmorphism-Immunodeficiency-Livedo-Short Stature Syndrome
- FADD-Related Immunodeficiency
- Familial Cold Autoinflammatory Syndrome
- Familial Cold Autoinflammatory Syndrome 1
- Familial Cold Autoinflammatory Syndrome 2
- Familial Cold Autoinflammatory Syndrome 3
- Familial Cold Autoinflammatory Syndrome 4
- Familial Hyperinflammatory Lymphoproliferative Immunodeficiency
- Familial Severe Combined Immunodeficiency
- FAS-Related Autoimmune Lymphoproliferative Syndrome
G6
H2
I74
- IKZF2-Related Combined Immunodeficiency
- Immunodeficiency 102
- Immunodeficiency 104
- Immunodeficiency 105
- Immunodeficiency 109 With Lymphoproliferation
- Immunodeficiency 114, Folate-Responsive
- Immunodeficiency 117
- Immunodeficiency 120
- Immunodeficiency 14
- Immunodeficiency 15a
- Immunodeficiency 18
- Immunodeficiency 19
- Immunodeficiency 23
- Immunodeficiency 25
- Immunodeficiency 27A
- Immunodeficiency 28
- Immunodeficiency 31B
- Immunodeficiency 32B
- Immunodeficiency 33
- Immunodeficiency 35
- Immunodeficiency 36 With Lymphoproliferation
- Immunodeficiency 37
- Immunodeficiency 39
- Immunodeficiency 47
- Immunodeficiency 49
- Immunodeficiency 51
- Immunodeficiency 53
- Immunodeficiency 61
- Immunodeficiency 62
- Immunodeficiency 64
- Immunodeficiency 67
- Immunodeficiency 69
- Immunodeficiency 73b With Defective Neutrophil Chemotaxis And Lymphopenia
- Immunodeficiency 73c With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
- Immunodeficiency 75
- Immunodeficiency 76
- Immunodeficiency 79
- Immunodeficiency 82 With Systemic Inflammation
- Immunodeficiency 84
- Immunodeficiency 92
- Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
- Immunodeficiency 98 With Autoinflammation, X-Linked
- Immunodeficiency Due To A Classical Component Pathway Complement Deficiency
- Immunodeficiency Due To A Late Component Of Complement Deficiency
- Immunodeficiency Due To CD25 Deficiency
- Immunodeficiency Due To ficolin3 Deficiency
- Immunodeficiency Due To MASP-2 Deficiency
- Immunodeficiency With Defective T-Cell Response To Interleukin 1
- Immunodeficiency With Factor H Anomaly
- Immunodeficiency With Thymoma
- Immunodeficiency, Common Variable, 1
- Immunodeficiency, Common Variable, 10
- Immunodeficiency, Common Variable, 12
- Immunodeficiency, Common Variable, 14
- Immunodeficiency, Common Variable, 15
- Immunodeficiency, Common Variable, 2
- Immunodeficiency, Common Variable, 3
- Immunodeficiency, Common Variable, 4
- Immunodeficiency, Common Variable, 5
- Immunodeficiency, Common Variable, 6
- Immunodeficiency, Common Variable, 7
- Immunodeficiency, Common Variable, Due To APRIL Deficiency
- Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
- Immunodeficiency-Associated Lymphoproliferative Disease
- Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
- Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
- Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
- Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
- Immunodysregulation With Variable Immunodeficiency And Autoimmunity
- Inherited Susceptibility To Mycobacterial Diseases
- Insulin Autoimmune Syndrome
- Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome
- IRF4-Related Combined Immunodeficiency
- Isolated Agammaglobulinemia
L3
M10
- Mendelian Susceptibility To Mycobacterial Diseases Due To A Complete Deficiency
- Mendelian Susceptibility To Mycobacterial Diseases Due To A Partial Deficiency
- Mendelian Susceptibility To Mycobacterial Diseases Due To Complete IFNgammaR1 Deficiency
- Mendelian Susceptibility To Mycobacterial Diseases Due To Complete IL12B Deficiency
- Mendelian Susceptibility To Mycobacterial Diseases Due To Complete IL12RB1 Deficiency
- Mendelian Susceptibility To Mycobacterial Diseases Due To Complete ISG15 Deficiency
- Mendelian Susceptibility To Mycobacterial Diseases Due To Partial IRF8 Deficiency
- Mendelian Susceptibility To Mycobacterial Diseases Due To Partial STAT1 Deficiency
- Methotrexate-Associated Lymphoproliferative Disorders
- Monocytosis/myelocytosis, Autoimmunity, Gain Of Function, Immunodeficiency, Short Stature
N8
- Neonatal-Onset Severe Multisystemic Autoinflammatory Disease With Increased IL18
- Neutrophil Immunodeficiency Syndrome
- NFATC1-Related Combined Immunodeficiency
- NIK Deficiency
- Non-Severe Combined Immunodeficiency Due To COPG1 Deficiency
- Non-Severe Combined Immunodeficiency Due To Polymerase Delta Deficiency
- Non-Specific Autoimmune Supratentorial Encephalitis With Characteristic Antibodies
- Non-Specific Autoimmune Supratentorial Encephalitis Without Characteristic Antibodies
P20
- PANDAS
- Periodic Fever-Infantile Enterocolitis-Autoinflammatory Syndrome
- POLD2-Related Combined Immunodeficiency
- POLD3-Related Combined Immunodeficiency
- Polyglandular Autoimmune Syndrome, Type 1
- Polyglandular Autoimmune Syndrome, Type 2
- Post-Transplant Lymphoproliferative Disease
- Primary Acquired Red Cell Aplasia
- Primary Autoimmune Enteropathy
- Primary Biliary Cholangitis/primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
- Primary Cutaneous CD30+ T-Cell Lymphoproliferative Disease
- Primary Hypophysitis
- Primary Immunodeficiency Syndrome Due To p14 Deficiency
- Primary Immunodeficiency With Post-Measles-Mumps-Rubella Vaccine Viral Infection
- Proteasome-Associated Autoinflammatory Syndrome 1
- Proteasome-Associated Autoinflammatory Syndrome 2
- Proteasome-Associated Autoinflammatory Syndrome 3
- Proteasome-Associated Autoinflammatory Syndrome 4
- Proteasome-Associated Autoinflammatory Syndrome 5
- Proteasome-Associated Autoinflammatory Syndrome 6
R3
S20
- SAMD9L-Associated Autoinflammatory Syndrome
- Secondary Neonatal Autoimmune Disease
- Seronegative Autoimmune Hepatitis
- Severe Combined Immunodeficiency Disease
- Severe Combined Immunodeficiency Due To CARD11 Deficiency
- Severe Combined Immunodeficiency Due To CARMIL2 Deficiency
- Severe Combined Immunodeficiency Due To CD70 Deficiency
- Severe Combined Immunodeficiency Due To CORO1A Deficiency
- Severe Combined Immunodeficiency Due To DCLRE1C Deficiency
- Severe Combined Immunodeficiency Due To DNA-PKcs Deficiency
- Severe Combined Immunodeficiency Due To IKK2 Deficiency
- Severe Combined Immunodeficiency Due To LAT Deficiency
- Severe Combined Immunodeficiency Due To LCK Deficiency
- Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Negative, Due To Adenosine Deaminase Deficiency
- Sharpin-Related Autoinflammatory Syndrome
- STAT3-Related Early-Onset Multisystem Autoimmune Disease
- Sterile Multifocal Osteomyelitis With Periostitis And Pustulosis
- Syndromic Agammaglobulinemia
- Syndromic Multisystem Autoimmune Disease Due To ITCH Deficiency
- Systemic Epstein-Barr Virus-Positive T-Cell Lymphoproliferative Disease Of Childhood
T8
- T Cell And NK Cell Immunodeficiency
- T-B+ Severe Combined Immunodeficiency
- T-B+ Severe Combined Immunodeficiency Due To CD3delta/CD3epsilon/CD3zeta
- T-B+ Severe Combined Immunodeficiency Due To CD45 Deficiency
- T-B+ Severe Combined Immunodeficiency Due To IL-7Ralpha Deficiency
- T-B+ Severe Combined Immunodeficiency Due To JAK3 Deficiency
- T-Cell Immunodeficiency
- TFRC-Related Combined Immunodeficiency
X9
- X-Linked Agammaglobulinemia
- X-Linked Agammaglobulinemia With Growth Hormone Deficiency
- X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection And Neoplasia
- X-Linked Lymphoproliferative Disease Due To SH2D1A Deficiency
- X-Linked Lymphoproliferative Disease Due To XIAP Deficiency
- X-Linked Lymphoproliferative Syndrome
- X-Linked Mendelian Susceptibility To Mycobacterial Diseases
- X-Linked Mendelian Susceptibility To Mycobacterial Diseases Due To CYBB Deficiency
- X-Linked Severe Combined Immunodeficiency