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Autosomal agammaglobulinemia
7 OMIM references -
8 associated genes
342 connected diseases
32 signs/symptoms
Disease Type of connection
Precursor B-cell acute lymphoblastic leukemia
SHORT syndrome
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Precursor T-cell acute lymphoblastic leukemia
Acute myeloblastic leukemia with maturation
Common variable immunodeficiency
Chronic myeloid leukemia
Distal 22q11.2 microdeletion syndrome
Papillary or follicular thyroid carcinoma
Hepatocellular carcinoma, childhood-onset
Giant cell glioblastoma
Gliosarcoma
Juvenile myelomonocytic leukemia
Gastrointestinal stromal tumor
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Autosomal dominant nonsyndromic intellectual deficit
Familial thoracic aortic aneurysm and aortic dissection
Severe combined immunodeficiency due to LCK deficiency
MODY syndrome
Fanconi anemia
Williams syndrome
Amyotrophic lateral sclerosis
Isolated brachycephaly
Hereditary nonpolyposis colon cancer
Craniopharyngioma
Desmoid tumor
Pilomatrixoma
Saethre-Chotzen syndrome
Noonan syndrome
Idiopathic hypereosinophilic syndrome
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked agammaglobulinemia
Aleukemic mast cell leukemia
Bullous diffuse cutaneous mastocytosis
Classic mast cell leukemia
Cutaneous mastocytoma
Isolated bone marrow mastocytosis
Lymphoadenopathic mastocytosis with eosinophilia
Nodular urticaria pigmentosa
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Piebaldism
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
Cowden syndrome
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Congenital pulmonary alveolar proteinosis
Pfeiffer syndrome type 1
Essential thrombocythemia
Myelofibrosis with myeloid metaplasia
Polycythemia vera
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
PLCG2-associated antibody deficiency and immune dysregulation
Loeys-Dietz syndrome type 1
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Pilocytic astrocytoma
Septo-optic dysplasia
T-B+ severe combined immunodeficiency due to CD3delta / CD3epsilon / CD3zeta
Familial medullary thyroid carcinoma
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Alobar holoprosencephaly
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Epidermolytic palmoplantar keratoderma
Familial platelet syndrome with predisposition to acute myelogenous leukemia
Fibronectin glomerulopathy
Isolated delta-storage pool disease
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Spondylocarpotarsal synostosis
T-B+ severe combined immunodeficiency due to CD45 deficiency
Haddad syndrome
Athabaskan brainstem dysgenesis syndrome
Bosley-Salih-Alorainy syndrome
Combined immunodeficiency due to ZAP70 deficiency
Familial isolated dilated cardiomyopathy
Familial retinoblastoma
Monosomy 13q14
Unilateral retinoblastoma
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Early-onset autosomal dominant Alzheimer disease
Lethal congenital contracture syndrome type 2
CLOVE syndrome
Hemimegalencephaly
Isolated scaphocephaly
Macrodactyly of fingers, unilateral
Megalencephaly-capillary malformation-polymicrogyria syndrome
Primary familial polycythemia
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Hyperinsulinism due to INSR deficiency
Insulin-resistance syndrome type A
Leprechaunism
Rabson-Mendenhall syndrome
Bilateral striopallidodentate calcinosis
Chronic myelomonocytic leukemia
Infantile myofibromatosis
Myeloid neoplasm associated with PDGFRB rearrangement
Unclassified chronic myeloproliferative disease
Budd-Chiari syndrome
Costello syndrome
Familial thrombocytosis
Linear nevus sebaceus syndrome
Phakomatosis pigmentokeratotica
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
X-linked thrombocytopenia with normal platelets
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
Laron syndrome
Short stature due to partial GHR deficiency
Growth delay due to insulin-like growth factor I resistance
Herpetic encephalitis
Acute megakaryoblastic leukemia without Down syndrome
Estrogen resistance syndrome
Hereditary sensory and autonomic neuropathy type 4
Hereditary sensory and autonomic neuropathy type 5
LEOPARD syndrome
Metachondromatosis
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Familial papillary renal cell carcinoma
Granulomatosis with polyangiitis
Hereditary gingival fibromatosis
Extraskeletal myxoid chondrosarcoma
Hartsfield-Bixler-Demyer syndrome
Hypocalcemic vitamin D-resistant rickets
Isolated plagiocephaly
Isolated trigonocephaly
Kallmann syndrome
Myeloid neoplasm associated with FGFR1 rearrangement
Normosmic congenital hypogonadotropic hypogonadism
Oligodontia
Osteoglophonic dwarfism
Hypohidrotic ectodermal dysplasia with immunodeficiency
Posterior polar cataract
Total congenital cataract
Familial pancreatic carcinoma
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
Autoimmune lymphoproliferative syndrome
Catecholaminergic polymorphic ventricular tachycardia
Hyper-IgM syndrome type 3
Myeloid neoplasm associated with PDGFRA rearrangement
X-linked epilepsy - learning disabilities - behavior disorders
Huntington disease
Juvenile Huntington disease
Marfan syndrome type 2
Multiple keratoacanthoma, Ferguson-Smith type
Acute biphenotypic leukemia
Antley-Bixler syndrome
Apert syndrome
Crouzon disease
Cutis gyrata - acanthosis nigricans - craniosynostosis
FGFR2-related bent bone dysplasia
Familial multiple nevi flammei
Familial scaphocephaly syndrome, McGillivray type
Jackson-Weiss syndrome
Lacrimo-auriculo-dento-digital syndrome
Minimally differentiated acute myeloblastic leukemia
Opsismodysplasia
Pfeiffer syndrome type 2
Pfeiffer syndrome type 3
Split hand-split foot malformation
Sturge-Weber syndrome
Familial isolated hyperparathyroidism
Familial parathyroid adenoma
Multiple endocrine neoplasia type 1
Ondine syndrome
Zollinger-Ellison syndrome
Mucocutaneous venous malformations
Coffin-Siris syndrome
Familial rhabdoid tumor
Proteus syndrome
22q11.2 deletion syndrome
46,XX gonadal dysgenesis
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
ALDH18A1-related De Barsy syndrome
ALK-positive anaplastic large cell lymphoma
ALK-positive large B-cell lymphoma
Acquired idiopathic sideroblastic anemia
Acute myeloid leukemia
Acute myeloid leukemia with multilineage dysplasia
Acute promyelocytic leukemia
Alpha-1-antitrypsin deficiency
Annular epidermolytic ichthyosis
Anophthalmia / microphthalmia - esophageal atresia
Apolipoprotein A-I deficiency
Atypical hemolytic uremic syndrome with C3 anomaly
Autoimmune polyendocrinopathy type 1
Autosomal dominant centronuclear myopathy
Autosomal dominant methemoglobinemia
Autosomal dominant progressive external ophthalmoplegia
Autosomal recessive limb-girdle muscular dystrophy type 2P
Autosomal recessive spastic paraplegia type 18
B-cell chronic lymphocytic leukemia
Beta-thalassemia intermedia
Beta-thalassemia major
Cerebellar ataxia-deafness-narcolepsy syndrome
Choreoacanthocytosis
Chronic intestinal pseudoobstruction
Colobomatous microphthalmia
Complement component 3 deficiency
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Congenital glaucoma
Congenital short bowel syndrome
Congenital stationary night blindness
Congenital valvular dysplasia
Deafness - lymphedema - leukemia
Delta-beta-thalassemia
Distal myopathy with posterior leg and anterior hand involvement
Dominant beta-thalassemia
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Dysequilibrium syndrome
Early infantile epileptic encephalopathy
Ehlers-Danlos syndrome with periventricular heterotopia
Ehlers-Danlos syndrome, dermatosparaxis type
Epidermolytic ichthyosis
Exfoliative ichthyosis
Familial amyloid polyneuropathy
Familial renal amyloidosis due to Apolipoprotein AI variant
Frontometaphyseal dysplasia
Frontotemporal dementia with motor neuron disease
Fuchs endothelial corneal dystrophy
Greenberg dysplasia
Heinz body anemia
Hemoglobin C - beta-thalassemia
Hemoglobin C disease
Hemoglobin D disease
Hemoglobin E - beta-thalassemia
Hemoglobin E disease
Hemoglobin Lepore - beta-thalassemia
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Hereditary persistence of fetal hemoglobin - sickle cell disease
Hermansky-Pudlak syndrome type 7
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Ichthyosis hystrix of Curth-Macklin
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Inflammatory myofibroblastic tumor
Intellectual disability-developmental delay-contractures syndrome
Intermittent hydrarthrosis
Isolated CoQ-cytochrome C reductase deficiency
Isolated anophthalmia - microphthalmia
Juvenile amyotrophic lateral sclerosis
Juvenile glaucoma
Juvenile primary lateral sclerosis
Keratosis palmoplantaris striata
Left ventricular noncompaction
Leigh syndrome with nephrotic syndrome
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Monocytopenia with susceptibility to infections
Monosomy 22q13
Muscle filaminopathy
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Myelodysplastic syndromes
Myxofibrosarcoma
Myxoid / round cell liposarcoma
Neuroblastoma
Osteodysplasty, Melnick-Needles type
Osteogenesis imperfecta type 3
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Pallister-Hall syndrome
Periventricular nodular heterotopia
Pitt-Hopkins syndrome
Primary sclerosing cholangitis
Primary systemic amyloidosis
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Pseudohypoaldosteronism type 2E
Recessive intellectual disability - motor dysfunction - multiple joint contractures
Recurrent infections associated with rare immunoglobulin isotypes deficiency
Refractory anemia
Refractory anemia with excess blasts
Retinitis pigmentosa
Reynolds syndrome
Severe X-linked mitochondrial encephalomyopathy
Sickle cell - beta-thalassemia disease
Sickle cell - hemoglobin C disease
Sickle cell - hemoglobin D disease
Sickle cell - hemoglobin E disease
Sickle cell anemia
Sitosterolemia
Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
TRAPS syndrome
Terminal osseous dysplasia - pigmentary defects
Thyrotoxic periodic paralysis
Transthyretin-related familial amyloid cardiomyopathy
X-linked Charcot-Marie-Tooth disease type 4
Capillary malformation - arteriovenous malformation
Parkes Weber syndrome
Autosomal recessive lymphoproliferative 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
Hereditary pheochromocytoma-paraganglioma
Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
Bilateral renal agenesis
Bilateral renal dysplasia
Hirschsprung disease
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Unilateral renal dysplasia
15q13.3 microdeletion syndrome
Athyreosis
Behavioral variant of frontotemporal dementia
Familial gestational hyperthyroidism
Familial hyperthyroidism due to mutations in TSH receptor
Hypothyroidism due to TSH receptor mutations
Intellectual deficiency - hypotonia - spasticity - sleep disorder
Nail-patella syndrome
Omenn syndrome
Partial pancreatic agenesis
Permanent neonatal diabetes mellitus
Progressive non-fluent aphasia
Semantic dementia
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
T-B+ severe combined immunodeficiency due to JAK3 deficiency
Thyroid hypoplasia
Synonym(s):
- Agammaglobulinemia, non-Bruton type
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
7 OMIM references -
No MeSH references
Very frequent
- Acute diarrhea
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Asthenia / fatigue / weakness
- Autosomal recessive inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Chronic / relapsing otitis
- Cough
- Cutaneous rash
- Fever / chilling
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Repeat respiratory infections

Frequent
- Arthritis / synovitis / synovial proliferation
- Autosomal dominant inheritance
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Ground-glass / reticular / alveolar / interstitial lung / pulmonary opacity
- Osteomyelitis / osteitis / periostitis / spondylodisciitis

Occasional
- Bronchial dilation / dilatation / bronchiectasia
- Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue
- Dehydration / hydroelectrolytic loss
- Early death / lethality
- Epicanthic folds
- External ear anomalies
- Hepatitis / icterus / cholestasis
- High vaulted / narrow palate
- Hypertelorism
- Malabsorption / chronic diarrhea / steatorrhea
- Meningitis / meningeal syndrome
- Polynuclear cells / neutrophils anomalies / neutropenia
- Sepsis severe / septicemia
- Warts / papillomas