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Common variable immunodeficiency
11 OMIM references -
11 associated genes
263 connected diseases
27 signs/symptoms
Disease Type of connection
Autoimmune lymphoproliferative syndrome
Autosomal recessive systemic lupus erythematosus
Blackfan-Diamond anemia
Precursor T-cell acute lymphoblastic leukemia
Amyotrophic lateral sclerosis
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Precursor B-cell acute lymphoblastic leukemia
Herpetic encephalitis
Autosomal agammaglobulinemia
Translocation renal cell carcinoma
Giant cell glioblastoma
Behavioral variant of frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Pediatric systemic lupus erythematosus
Congenital fibrosis of extraocular muscles
Baraitser-Winter syndrome
Adult-onset distal myopathy due to VCP mutation
Spastic paraplegia - Paget disease of bone
Chronic myeloid leukemia
Hypohidrotic ectodermal dysplasia with immunodeficiency
Autosomal dominant hypohidrotic ectodermal dysplasia
Chronic mucocutaneous candidiasis
Mitochondrial trifunctional protein deficiency
Chronic granulomatous disease
Acute myeloblastic leukemia with maturation
Extraskeletal myxoid chondrosarcoma
Hypomyelination with atrophy of basal ganglia and cerebellum
Lissencephaly due to TUBA1A mutation
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Polymicrogyria due to TUBB2B mutation
Primary dystonia, DYT4 type
Severe X-linked mitochondrial encephalomyopathy
X-linked Charcot-Marie-Tooth disease type 4
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal dominant nonsyndromic intellectual deficit
Acute promyelocytic leukemia
Familial isolated dilated cardiomyopathy
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Severe combined immunodeficiency due to LCK deficiency
Severe combined immunodeficiency due to DNA-PKcs deficiency
Typical nemaline myopathy
Cowden syndrome
Developmental malformations - deafness - dystonia
Junctional epidermolysis bullosa - pyloric atresia
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Distal 22q11.2 microdeletion syndrome
Noonan syndrome
Anaplastic ependymoma
Split hand-split foot malformation
Autosomal dominant hyper-IgE syndrome
Hyperinsulinism due to INSR deficiency
Insulin-resistance syndrome type A
Rabson-Mendenhall syndrome
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Incontinentia pigmenti
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Hyper-IgM syndrome type 3
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked agammaglobulinemia
Familial isolated hyperparathyroidism
Familial parathyroid adenoma
Multiple endocrine neoplasia type 1
Pyogenic bacterial infections due to MyD88 deficiency
Waldenström macroglobulinemia
Zollinger-Ellison syndrome
Bartsocas-Papas syndrome
Klippel-Trénaunay syndrome
Glucocorticoid resistance
Graham Little-Piccardi-Lassueur syndrome
SHORT syndrome
Cone rod dystrophy
Pyruvate dehydrogenase phosphatase deficiency
Williams syndrome
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Aleukemic mast cell leukemia
Bullous diffuse cutaneous mastocytosis
Childhood absence epilepsy
Chuvash erythrocytosis
Classic mast cell leukemia
Cutaneous mastocytoma
Gastrointestinal stromal tumor
Isolated bone marrow mastocytosis
Juvenile myoclonic epilepsy
Lymphoadenopathic mastocytosis with eosinophilia
Nodular urticaria pigmentosa
Plaque-form urticaria pigmentosa
Pseudoxanthomatous diffuse cutaneous mastocytosis
Smouldering systemic mastocytosis
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
Telangiectasia macularis eruptiva perstans
Typical urticaria pigmentosa
Von Hippel-Lindau disease
Acute fatty liver of pregnancy
Acute infantile liver failure-multisystemic involvement syndrome
Annular epidermolytic ichthyosis
Atypical hemolytic uremic syndrome with MCP / CD46 anomaly
Catecholaminergic polymorphic ventricular tachycardia
Coffin-Siris syndrome
Congenital reticular ichthyosiform erythroderma
Distal myopathy with vocal cord weakness
Epidermolytic ichthyosis
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial rhabdoid tumor
Fibronectin glomerulopathy
Hereditary motor and sensory neuropathy, Okinawa type
Idiopathic pulmonary fibrosis
Inflammatory myofibroblastic tumor
Keratosis palmoplantaris striata
Lethal acantholytic epidermolysis bullosa
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Mandibulofacial dysostosis-microcephaly syndrome
Papillary or follicular thyroid carcinoma
Retinitis pigmentosa
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Spastic paraplegia-optic atrophy-neuropathy syndrome
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Atypical hemolytic uremic syndrome with C3 anomaly
Complement component 3 deficiency
Giant cell arteritis
Granulomatosis with polyangiitis
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Intermittent hydrarthrosis
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
TRAPS syndrome
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Aicardi-Goutières syndrome
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant macrothrombocytopenia
Autosomal dominant methemoglobinemia
Bullous pemphigoid
Cervical spina bifida aperta
Cervical spina bifida cystica
Cervicothoracic spina bifida aperta
Cervicothoracic spina bifida cystica
Chilblain lupus
Chronic intestinal pseudoobstruction
Classical progressive supranuclear palsy
Combined oxidative phosphorylation defect type 4
Congenital glaucoma
Congenital short bowel syndrome
Congenital valvular dysplasia
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Desmoplastic small round cell tumor
Diffuse cutaneous systemic sclerosis
Distal hereditary motor neuropathy type 2
Ehlers-Danlos syndrome with periventricular heterotopia
Ewing sarcoma
Extraskeletal Ewing sarcoma
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Follicular lymphoma
Frontometaphyseal dysplasia
Gamma-glutamyl transpeptidase deficiency
Hb Bart's hydrops fetalis
Hemoglobin H disease
Hereditary chronic pancreatitis
Hereditary combined deficiency of vitamin K-dependent clotting factors
Isolated ATP synthase deficiency
Juvenile glaucoma
Limited cutaneous systemic sclerosis
Limited systemic sclerosis
Lumbosacral spina bifida aperta
Lumbosacral spina bifida cystica
Melanoma of soft part
Muscular dystrophy, Selcen type
Narcolepsy without cataplexy
Neutrophil immunodeficiency syndrome
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Parkinsonian-pyramidal syndrome
Partial chromosome Y deletion
Periventricular nodular heterotopia
Polymicrogyria with optic nerve hypoplasia
Progressive supranuclear palsy - corticobasal syndrome
Progressive supranuclear palsy - parkinsonism
Progressive supranuclear palsy - progressive non fluent aphasia
Progressive supranuclear palsy - pure akinesia with gait freezing
Proteus syndrome
T-B+ severe combined immunodeficiency due to JAK3 deficiency
Terminal osseous dysplasia - pigmentary defects
Thoracolumbosacral spina bifida aperta
Thoracolumbosacral spina bifida cystica
Total spina bifida aperta
Total spina bifida cystica
Upper thoracic spina bifida aperta
Upper thoracic spina bifida cystica
Young adult-onset Parkinsonism
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
PLCG2-associated antibody deficiency and immune dysregulation
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Spinocerebellar ataxia type 15 / 16
Spinocerebellar ataxia type 29
2q37 microdeletion syndrome
46,XX gonadal dysgenesis
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
Childhood-onset nemaline myopathy
Cleidocranial dysplasia
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Epidermolysis bullosa simplex with pyloric atresia
Generalized junctional epidermolysis bullosa, non-Herlitz type
Intermediate nemaline myopathy
Leukocyte adhesion deficiency type I
Localized junctional epidermolysis bullosa, non-Herlitz type
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Severe congenital nemaline myopathy
Adult-onset autosomal dominant leukodystrophy
CLOVE syndrome
Early infantile epileptic encephalopathy
Familial thoracic aortic aneurysm and aortic dissection
Growth delay due to insulin-like growth factor I resistance
Hereditary gingival fibromatosis
Hereditary nonpolyposis colon cancer
Juvenile myelomonocytic leukemia
LEOPARD syndrome
Macrodactyly of fingers, unilateral
Malignant migrating partial seizures of infancy
Megalencephaly-capillary malformation-polymicrogyria syndrome
Moyamoya disease
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Partial acquired lipodystrophy
Pilocytic astrocytoma
Presynaptic congenital myasthenic syndromes
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Dedifferentiated liposarcoma
Haim-Munk syndrome
Papillon-Lefèvre syndrome
Well-differentiated liposarcoma
- Idiopathic immunoglobulin deficiency
- Primary antibody deficiency
- Primary hypogammaglobulinemia

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare oncologic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
External references:
11 OMIM references -
1 MeSH reference: D017074

Very frequent
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Autosomal dominant inheritance
- Chronic / relapsing otitis
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Leukopenia / hypoleukocytosis
- Lymphopenia
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Repeat respiratory infections
- Thrombocytopenia / thrombopenia

- Abnormal hepatic enzymes / transaminases
- Autosomal recessive inheritance
- Bronchial dilation / dilatation / bronchiectasia
- Hemolytic anemia
- Lymphadenopathy / polyadenopathies
- Malabsorption / chronic diarrhea / steatorrhea
- Purpura / petichiae
- Splenomegaly
- Structural anomalies of the liver and the biliary tract

- Articular / joint pain / arthralgia
- Biological inflammatory syndrome / increased erythrocyte sedimentation rate / CRP
- Emphysema
- Estomach / gastric neoplasm / tumor / carcinoma / cancer
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Gastrointestinal stromal tumor
- Interstitial / restrictive pneumopathy / restrictive respiratory syndrome
- Lymphoma
- Vascularitis / vasculitides / arteritis