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XLA
MCID: AGM019
MIFTS: 70

Agammaglobulinemia, X-Linked (XLA)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Agammaglobulinemia, X-Linked

About this section

MalaCards integrated aliases for Agammaglobulinemia, X-Linked:

Name: Agammaglobulinemia, X-Linked 58
X-Linked Agammaglobulinemia 12 77 25 54 26 60 76 30 56 6 74
Bruton Type Agammaglobulinemia 77 54 60 45
Xla 58 54 26 76
Bruton-Type Agammaglobulinemia 58 12 15
Agammaglobulinemia, X-Linked 1 58 30 13
Bruton's Agammaglobulinemia 54 26
Hypogammaglobulinemia 26 74
Agammaglobulinemia 26 74
Btk-Deficiency 54 60
Agmx1 58 76
Imd1 58 76
Bruton Agammaglobulinemia Tyrosine Kinase Deficiency 12
Agammaglobulinemia, X-Linked, Type 1; Agmx1 58
Agammaglobulinemia, Bruton Tyrosine Kinase 54
Bruton Agammaglobulinemia Tyrosine Kinase 13
Bruton's Sex-Linked Agammaglobulinemia 12
Agammaglobulinemia, X-Linked, Type 1 58
X-Linked Agammaglobulinemia Type 1 76
Bruton's Type Agammaglobulinemia 12
Agammaglobulinemia, X-Linked ) 41
Congenital Agammaglobulinemia 26
Bruton's Agammaglobulinaemia 12
Immunodeficiency 1; Imd1 58
Agammaglobulinemia, Btk 54
Immunodeficiency Type 1 76
Immunodeficiency 1 58
Btk Deficiency 12

Characteristics:

Orphanet epidemiological data:

60
x-linked agammaglobulinemia
Inheritance: Not applicable,X-linked recessive; Prevalence: 1-9/1000000 (Worldwide),1-9/1000000 (France),1-9/1000000 (Italy); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
x-linked recessive

Miscellaneous:
susceptibility to infections start in the first year of life


HPO:

33
agammaglobulinemia, x-linked:
Inheritance x-linked recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Immune diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare immunological diseases


Sources

Summaries for Agammaglobulinemia, X-Linked

About this section
NIH Rare Diseases : 54 X-linked agammaglobulinema is a primary immunodeficiency characterized by very low levels of immunoglobulins (proteins made by the immune system to help fight infections). People affected by this condition generally begin developing frequent and recurrent bacterial infections from about 6 months of age. Commonly diagnosed infections include lung infections (pneumonia and bronchitis), middle ear infections, conjunctivitis, sinus infections, various skin infections, and infections that are associated with chronic diarrhea. X-linked agammaglobulinemia is caused by changes (mutations) in the BTK gene and is inherited in an X-linked recessive manner. Treatment aims to boost the immune system, which may be accomplished by administering immunoglobulins through a vein (IVIG) or subcutaneously (SCIG). Frequent infections are generally treated with antibiotics.

MalaCards based summary : Agammaglobulinemia, X-Linked, also known as x-linked agammaglobulinemia, is related to congenital hypogammaglobulinemia and agammaglobulinemia, non-bruton type, and has symptoms including diarrhea An important gene associated with Agammaglobulinemia, X-Linked is BTK (Bruton Tyrosine Kinase), and among its related pathways/superpathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. The drugs Hyaluronic acid and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include b cells, skin and bone, and related phenotypes are failure to thrive and chronic otitis media

Disease Ontology : 12 A B cell deficiency that is that has material basis in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement.

Genetics Home Reference : 26 X-linked agammaglobulinemia (XLA) is a condition that affects the immune system and occurs almost exclusively in males. People with XLA have very few B cells, which are specialized white blood cells that help protect the body against infection. B cells can mature into the cells that produce special proteins called antibodies or immunoglobulins. Antibodies attach to specific foreign particles and germs, marking them for destruction. Individuals with XLA are more susceptible to infections because their body makes very few antibodies.

OMIM : 58 X-linked agammaglobulinemia is an immunodeficiency characterized by failure to produce mature B lymphocytes and associated with a failure of Ig heavy chain rearrangement. The defect in this disorder resides in BTK, also known as BPK or ATK, a key regulator in B-cell development (Rawlings and Witte, 1994). The X-linked form accounts for approximately 85 to 90% of cases of the disorder. Also see 300310. The remaining 15% of cases constitute a heterogeneous group of autosomal disorders (Lopez Granados et al., 2002; Ferrari et al., 2007). (300755)

UniProtKB/Swiss-Prot : 76 X-linked agammaglobulinemia: Humoral immunodeficiency disease which results in developmental defects in the maturation pathway of B-cells. Affected boys have normal levels of pre-B-cells in their bone marrow but virtually no circulating mature B-lymphocytes. This results in a lack of immunoglobulins of all classes and leads to recurrent bacterial infections like otitis, conjunctivitis, dermatitis, sinusitis in the first few years of life, or even some patients present overwhelming sepsis or meningitis, resulting in death in a few hours. Treatment in most cases is by infusion of intravenous immunoglobulin.

Wikipedia : 77 X-linked agammaglobulinemia (XLA) is a rare genetic disorder discovered in 1952 that affects the body''s... more...

GeneReviews:
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Related Diseases for Agammaglobulinemia, X-Linked

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Diseases related to Agammaglobulinemia, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 431)
# Related Disease Score Top Affiliating Genes
1 congenital hypogammaglobulinemia 33.4 BTK CD79A
2 agammaglobulinemia, non-bruton type 32.3 BTK CD79A IGHM
3 immunoglobulin g deficiency 32.0 CD40LG CD79A
4 lymphoproliferative syndrome 1 32.0 ITK SH2D1A
5 agammaglobulinemia 1, autosomal recessive 32.0 BTK IGHM
6 immunoglobulin a deficiency 1 31.8 BTK CD40LG CD79A
7 immunodeficiency with hyper-igm, type 3 31.7 CD40 CD40LG
8 transient hypogammaglobulinemia of infancy 30.3 BTK CD40 CD40LG
9 agammaglobulinemia 30.0 BTK CD79A IGHM ITK SRC
10 meningoencephalitis 30.0 CD40LG CD79A
11 cd40 ligand deficiency 29.9 CD40 CD40LG
12 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 29.6 BTK CD40LG CXCL12 SH2D1A
13 macroglobulinemia 29.6 BTK CD40LG CXCL12
14 immunodeficiency with hyper-igm, type 1 29.6 BTK CD40 CD40LG CD79A
15 common variable immunodeficiency 29.5 BTK CD40 CD40LG CD79A SH2D1A
16 dysgammaglobulinemia 29.5 CD79A SH2D1A
17 immunoglobulin alpha deficiency 29.5 CD40LG CD79A
18 b cell deficiency 29.5 BTK CD40 CD40LG SH2D1A
19 cryoglobulinemia 29.5 CD40LG CD79A
20 lymphosarcoma 29.5 CD79A SH2D1A
21 cryptosporidiosis 29.3 CD40LG CD79A
22 leukemia, chronic lymphocytic 29.2 CD40 CD40LG CXCL12 IGHM
23 myeloma, multiple 29.0 CD40 CD79A CXCL12
24 lymphoma, non-hodgkin, familial 28.8 CD40 CD79A CXCL12 SH2D1A
25 agammaglobulinemia 6, autosomal recessive 12.5
26 agammaglobulinemia 2, autosomal recessive 12.5
27 agammaglobulinemia 3, autosomal recessive 12.5
28 agammaglobulinemia 5, autosomal dominant 12.5
29 agammaglobulinemia 7, autosomal recessive 12.5
30 agammaglobulinemia 8, autosomal dominant 12.5
31 agammaglobulinemia 4, autosomal recessive 12.4
32 pulmonary alveolar proteinosis with hypogammaglobulinemia 12.4
33 whim syndrome 12.2
34 primary agammaglobulinemia 12.1
35 agammaglobulinemia, microcephaly, and severe dermatitis 12.1
36 microcephaly with chemotactic defect and transient hypogammaglobulinemia 12.1
37 retinal telangiectasia and hypogammaglobulinemia 12.1
38 osteopetrosis, autosomal recessive 7 12.1
39 x-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome 12.0
40 isolated agammaglobulinemia 12.0
41 ectodermal dysplasia and immunodeficiency 1 12.0
42 immunodeficiency 61 11.7
43 isolated growth hormone deficiency, type iii, with agammaglobulinemia 11.7
44 immunodeficiency, common variable, 2 11.7
45 isolated growth hormone deficiency type iii 11.5
46 mohr-tranebjaerg syndrome 11.5
47 immunodeficiency 14 11.4
48 frenkel russe syndrome 11.3
49 lymphoproliferative syndrome 2 11.3
50 autoimmune lymphoproliferative syndrome, type v 11.2

Comorbidity relations with Agammaglobulinemia, X-Linked via Phenotypic Disease Network (PDN):


Acute Cystitis Bronchiectasis
Bronchitis Deficiency Anemia
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 Leukemia, Chronic Lymphocytic
Neutropenia

Graphical network of the top 20 diseases related to Agammaglobulinemia, X-Linked:



Diseases related to Agammaglobulinemia, X-Linked
Sources

Symptoms & Phenotypes for Agammaglobulinemia, X-Linked

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Human phenotypes related to Agammaglobulinemia, X-Linked:

60 33 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
2 chronic otitis media 60 33 hallmark (90%) Very frequent (99-80%) HP:0000389
3 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
4 fever 60 33 hallmark (90%) Very frequent (99-80%) HP:0001945
5 fatigue 60 33 hallmark (90%) Very frequent (99-80%) HP:0012378
6 immunodeficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0002721
7 glossoptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000162
8 sinusitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000246
9 skin ulcer 60 33 hallmark (90%) Very frequent (99-80%) HP:0200042
10 abnormality of the tonsils 60 33 hallmark (90%) Very frequent (99-80%) HP:0100765
11 conjunctivitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000509
12 skin rash 60 33 hallmark (90%) Very frequent (99-80%) HP:0000988
13 chronic diarrhea 60 33 hallmark (90%) Very frequent (99-80%) HP:0002028
14 agammaglobulinemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0004432
15 recurrent pneumonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0006532
16 recurrent cutaneous abscess formation 60 33 hallmark (90%) Very frequent (99-80%) HP:0100838
17 arthritis 60 33 frequent (33%) Frequent (79-30%) HP:0001369
18 sensorineural hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000407
19 hypocalcemia 60 33 frequent (33%) Frequent (79-30%) HP:0002901
20 meningitis 60 33 frequent (33%) Frequent (79-30%) HP:0001287
21 neutropenia 60 33 frequent (33%) Frequent (79-30%) HP:0001875
22 cellulitis 60 33 frequent (33%) Frequent (79-30%) HP:0100658
23 sepsis 60 33 frequent (33%) Frequent (79-30%) HP:0100806
24 malabsorption 60 33 occasional (7.5%) Occasional (29-5%) HP:0002024
25 hepatitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0012115
26 anemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001903
27 neoplasm 60 33 occasional (7.5%) Occasional (29-5%) HP:0002664
28 weight loss 60 33 occasional (7.5%) Occasional (29-5%) HP:0001824
29 alopecia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001596
30 autoimmunity 60 33 occasional (7.5%) Occasional (29-5%) HP:0002960
31 thrombocytopenia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001873
32 hypopigmented skin patches 60 33 occasional (7.5%) Occasional (29-5%) HP:0001053
33 osteomyelitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002754
34 encephalitis 33 HP:0002383
35 hearing impairment 33 HP:0000365
36 delayed speech and language development 33 HP:0000750
37 abnormality of the lymphatic system 60 Very frequent (99-80%)
38 diarrhea 33 HP:0002014
39 otitis media 33 HP:0000388
40 abnormality of lung morphology 60 Frequent (79-30%)
41 recurrent urinary tract infections 33 HP:0000010
42 pneumonia 33 HP:0002090
43 lymph node hypoplasia 33 HP:0002732
44 prostatitis 33 HP:0000024
45 septic arthritis 33 HP:0003095
46 epididymitis 33 HP:0000031
47 pyoderma 33 HP:0000999
48 cor pulmonale 33 HP:0001648
49 enteroviral hepatitis 33 HP:0001412
50 enteroviral dermatomyositis syndrome 33 HP:0003729

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
encephalitis
meningitis
delayed speech acquisition

Abdomen Gastrointestinal:
diarrhea

Head And Neck Eyes:
conjunctivitis

Genitourinary Internal Genitalia Male:
prostatitis
epididymitis

Skin Nails Hair Skin:
pyoderma

Muscle Soft Tissue:
enteroviral dermatomyositis syndrome

Neoplasia:
increased incidence of rectosigmoid cancer

Respiratory Nasopharynx:
sinusitis
rudimentary adenoids
rudimentary tonsils

Head And Neck Ears:
otitis media
hearing loss

Respiratory Lung:
pneumonia
hypoxemia and cor pulmonale

Skeletal Limbs:
septic arthritis

Abdomen Liver:
enteroviral hepatitis

Immunology:
frequent bacterial infections
severe enteroviral infections
small lymph nodes
absent b-lymphocytes in all organs
absent plasma cells in all organs

Laboratory Abnormalities:
absent or severely reduced levels of serum immunoglobulins

Clinical features from OMIM:

300755

UMLS symptoms related to Agammaglobulinemia, X-Linked:


diarrhea

GenomeRNAi Phenotypes related to Agammaglobulinemia, X-Linked according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.8 BTK
2 Decreased viability GR00221-A-2 9.8 BTK
3 Decreased viability GR00221-A-3 9.8 BTK
4 Decreased viability GR00221-A-4 9.8 BTK ITK
5 Decreased viability GR00301-A 9.8 BTK ITK SRC
6 Decreased viability GR00342-S-1 9.8 ITK
7 Decreased viability GR00342-S-2 9.8 ITK
8 Decreased viability GR00342-S-3 9.8 ITK
9 Decreased viability GR00402-S-2 9.8 BTK ITK SRC
10 Decreased viability in HMC1.1 cells GR00105-A-0 8.62 ITK SRC

MGI Mouse Phenotypes related to Agammaglobulinemia, X-Linked:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.61 BTK CD40 CD40LG CD79A CXCL12 ITK
2 immune system MP:0005387 9.28 BTK CD40 CD40LG CD79A CXCL12 ITK
Sources

Drugs & Therapeutics for Agammaglobulinemia, X-Linked

About this section

Drugs for Agammaglobulinemia, X-Linked (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 65)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
2 Protective Agents Phase 4,Not Applicable
3 Immunologic Factors Phase 4,Phase 3,Phase 2,Not Applicable
4 Adjuvants, Immunologic Phase 4
5 Viscosupplements Phase 4
6 Immunoglobulins Phase 4,Phase 3,Not Applicable
7 Immunoglobulins, Intravenous Phase 4,Phase 3
8 Rho(D) Immune Globulin Phase 4,Phase 3
9 gamma-Globulins Phase 4,Phase 3
10 Antibodies Phase 4,Phase 3,Not Applicable
11 Immunoglobulin G Phase 4,Phase 3
12
Tyrosine Approved, Investigational, Nutraceutical Phase 3 60-18-4 6057
13
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
14
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
15
alemtuzumab Approved, Investigational Phase 2 216503-57-0
16
Melphalan Approved Phase 2 148-82-3 460612 4053
17 Immunosuppressive Agents Phase 2,Not Applicable
18 Antineoplastic Agents, Alkylating Phase 2,Not Applicable
19 Antineoplastic Agents, Immunological Phase 2
20 Antimetabolites Phase 2,Not Applicable
21 Antimetabolites, Antineoplastic Phase 2,Not Applicable
22 Alkylating Agents Phase 2,Not Applicable
23
Methylprednisolone Approved, Vet_approved Not Applicable 83-43-2 6741
24
Prednisone Approved, Vet_approved Not Applicable 53-03-2 5865
25
Miconazole Approved, Investigational, Vet_approved Not Applicable 22916-47-8 4189
26
Busulfan Approved, Investigational Not Applicable 55-98-1 2478
27
Methylprednisolone hemisuccinate Approved Not Applicable 2921-57-5
28
Etoposide Approved Not Applicable 33419-42-0 36462
29
Methotrexate Approved Not Applicable 1959-05-2, 59-05-2 126941
30
Prednisolone phosphate Approved, Vet_approved Not Applicable 302-25-0
31
Cyclophosphamide Approved, Investigational Not Applicable 50-18-0, 6055-19-2 2907
32
leucovorin Approved Not Applicable 58-05-9 143 6006
33
Prednisolone Approved, Vet_approved Not Applicable 50-24-8 5755
34
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
35
Prednisolone hemisuccinate Experimental Not Applicable 2920-86-7
36 Vaccines Not Applicable
37 Gastrointestinal Agents Not Applicable
38 Hormones Not Applicable
39 Nucleic Acid Synthesis Inhibitors Not Applicable
40 glucocorticoids Not Applicable
41 Anti-Infective Agents Not Applicable
42 Hormone Antagonists Not Applicable
43 Autonomic Agents Not Applicable
44 Methylprednisolone Acetate Not Applicable
45 Complement System Proteins Not Applicable
46 Folic Acid Antagonists Not Applicable
47 Prednisolone acetate Not Applicable
48 Antirheumatic Agents Not Applicable
49 Topoisomerase Inhibitors Not Applicable
50 Antifungal Agents Not Applicable

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Hyaluronic Acid Filler IMD1 Basic for Correction of Nasolabial Folds Completed NCT00429520 Phase 4 Hyaluronic acid filler/IMD1 basic
2 A Study to Find Out How Safe and Effective Gammaplex® is in Young People With Primary Immunodeficiency Completed NCT01289847 Phase 4
3 Efficacy and Safety of Vivaglobin® in Previously Untreated Patients With Primary Immunodeficiency Completed NCT00520494 Phase 4 Vivaglobin
4 Study of Subcutaneous Immune Globulin in Patients Requiring IgG Replacement Therapy Completed NCT00542997 Phase 3
5 Pharmacokinetics (PK) and Safety of Subgam-VF in Primary Immunodeficiency Diseases Completed NCT01884311 Phase 3
6 Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency Diseases Completed NCT01963143 Phase 3
7 A Clinical Study of Intravenous Immunoglobulin Completed NCT00468273 Phase 3 Immune Globulin Intravenous (Human) Omr-IgG-am IGIV
8 A Study of PRN1008 in Patients With Pemphigus Recruiting NCT03762265 Phase 3 PRN1008 Oral Tablet;Placebo Oral Tablet
9 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
10 Mutation of the BTK Gene and Genotype-phenotype Correlation of Chinese Patients With X-Linked Agammaglobulinemia Unknown status NCT02234791
11 Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders Unknown status NCT00004341
12 Assessment of Immunogenicity of Zostavax® in Patients With Antibody Deficiency 60 Years of Age and Older Terminated NCT02960399 Not Applicable
13 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 Not Applicable anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;methotrexate;methylprednisolone;prednisone

Search NIH Clinical Center for Agammaglobulinemia, X-Linked

Cochrane evidence based reviews: bruton type agammaglobulinemia

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Genetic Tests for Agammaglobulinemia, X-Linked

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Genetic tests related to Agammaglobulinemia, X-Linked:

# Genetic test Affiliating Genes
1 X-Linked Agammaglobulinemia 30 BTK
2 Agammaglobulinemia, X-Linked 1 30
Sources

Anatomical Context for Agammaglobulinemia, X-Linked

About this section

MalaCards organs/tissues related to Agammaglobulinemia, X-Linked:

42
B Cells, Skin, Bone, Bone Marrow, Lung, Prostate, T Cells
Sources

Publications for Agammaglobulinemia, X-Linked

About this section

Articles related to Agammaglobulinemia, X-Linked:

(show top 50) (show all 357)
# Title Authors Year
1
Clinical and genetic profiles of patients with X-linked agammaglobulinemia from southeast Turkey: Novel mutations in BTK gene. ( 30072168 )
2019
2
Oral direct-acting antiviral therapy for hepatitis C virus infection in X-linked agammaglobulinemia. ( 30339854 )
2019
3
Pseudomonas aeruginosa severe skin infection in a toddler with X-linked agammaglobulinemia due to a novel BTK mutation. ( 30882382 )
2019
4
X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world. ( 30937141 )
2019
5
Accelerated immunodeficiency-associated vaccine derived poliovirus serotype 3 (iVDPV3) sequence evolution rate in a 3-month old boy with X-linked agammaglobulinemia and perinatal HIV exposure. ( 31086993 )
2019
6
Achromobacter xylosoxidans Sepsis Unveiling X-linked Agammaglobulinemia Masquerading as Systemic-onset Juvenile Idiopathic Arthritis. ( 31102385 )
2019
7
Functional Antibody Responses Following Allogeneic Stem Cell Transplantation for TP53 Mutant pre-B-ALL in a Patient With X-Linked Agammaglobulinemia. ( 31105705 )
2019
8
Clinical and genetic features of the patients with X-Linked agammaglobulinemia from Turkey: Single-centre experience. ( 29424453 )
2018
9
Emergence of Carbapenem Non-susceptible Campylobacter coli after Long-term Treatment against Recurrent Bacteremia in a Patient with X-linked Agammaglobulinemia. ( 29491300 )
2018
10
Dried Blood Spots, an Affordable Tool to Collect, Ship, and Sequence gDNA from Patients with an X-Linked Agammaglobulinemia Phenotype Residing in a Developing Country. ( 29503650 )
2018
11
Kappa-deleting recombination excision circle levels remain low or undetectable throughout life in patients with X-linked agammaglobulinemia. ( 29543351 )
2018
12
Helicobacter cinaedi bacteremia mimicking eosinophilic fasciitis in a patient with X-linked agammaglobulinemia. ( 29693060 )
2018
13
Type I and III Interferon Productions Are Impaired in X-Linked Agammaglobulinemia Patients Toward Poliovirus but Not Influenza Virus. ( 30147693 )
2018
14
Direct and Indirect Costs of Immunoglobulin Replacement Therapy in Patients with Common Variable Immunodeficiency (CVID) and X-Linked Agammaglobulinemia (XLA) in Italy. ( 30191508 )
2018
15
Chronic Aichi Virus Infection in a Patient with X-Linked Agammaglobulinemia. ( 30311057 )
2018
16
Correction to: Chronic Aichi Virus Infection in a Patient with X-Linked Agammaglobulinemia. ( 30430354 )
2018
17
Toll-like receptors pathway in common variable immune deficiency (CVID) and X-linked agammaglobulinemia (XLA). ( 30698158 )
2018
18
Delayed diagnosis in X-linked agammaglobulinemia and its relationship to the occurrence of mutations in BTK non-kinase domains. ( 29202590 )
2018
19
An X-linked agammaglobulinemia contiguous gene syndrome with metachronous coprimary testicular cancers. ( 29307603 )
2018
20
X-linked agammaglobulinemia complicated with pulmonary aspergillosis. ( 29356289 )
2018
21
Gastrointestinal Manifestations in X-linked Agammaglobulinemia. ( 28236219 )
2017
22
Gastrointestinal disorders next to respiratory infections as leading symptoms of X-linked agammaglobulinemia in children - 34-year experience of a single center. ( 28261296 )
2017
23
X-linked agammaglobulinemia - first case with Bruton tyrosine kinase mutation from Pakistan. ( 28304004 )
2017
24
Serial Serum Immunoglobulin G (IgG) Trough Levels in Patients with X-linked Agammaglobulinemia on Replacement Therapy with Intravenous Immunoglobulin: Its Correlation with Infections in Indian Children. ( 28321612 )
2017
25
Nitazoxanide Is an Ineffective Treatment of Chronic Norovirus in Patients With X-Linked Agammaglobulinemia and May Yield False-Negative Polymerase Chain Reaction Findings in Stool Specimens. ( 28362905 )
2017
26
A child with X-linked agammaglobulinemia and Kawasaki disease: an unusual association. ( 28365793 )
2017
27
Pseudomonas aeruginosa Liver Abscess as the First Manifestation of X-Linked Agammaglobulinemia With a Novel Mutation. ( 28398200 )
2017
28
The lack of BTK does not impair monocytes and polymorphonuclear cells functions in X-linked agammaglobulinemia under treatment with intravenous immunoglobulin replacement. ( 28422989 )
2017
29
IVIG-triggered tubulointerstitial nephritis in X-linked agammaglobulinemia. ( 28707726 )
2017
30
Pyoderma Gangrenosum in a Patient with X-Linked Agammaglobulinemia. ( 28761297 )
2017
31
Large BTK gene mutation in a child with X-linked agammaglobulinemia and polyarthritis. ( 28807838 )
2017
32
Helicobacter bilis-Associated Suppurative Cholangitis in a Patient with X-Linked Agammaglobulinemia. ( 28856582 )
2017
33
Acral lympho-histiocytic dermatitis in X-linked agammaglobulinemia: a case report showing clonal CD8(+) T cells with indolent clinical behaviour. ( 25388899 )
2016
34
Allogeneic stem cell transplantation for X-linked agammaglobulinemia using reduced intensity conditioning as a model of the reconstitution of humoral immunity. ( 26873735 )
2016
35
Enteroviruses in X-Linked Agammaglobulinemia: Update on Epidemiology and Therapy. ( 26883540 )
2016
36
X-linked Agammaglobulinemia. ( 26909497 )
2016
37
Clinical and mutational features of X-linked agammaglobulinemia in Mexico. ( 26960951 )
2016
38
Spondylodiscitis in a Boy with X-linked Agammaglobulinemia: an Unusual Occurrence. ( 26961362 )
2016
39
Helicobacter cinaedi bacteremia resulting from antimicrobial resistance acquired during treatment for X-linked agammaglobulinemia. ( 27040158 )
2016
40
Xq22.1 contiguous gene deletion syndrome of X-linked agammaglobulinemia and Mohr-Tranebjærg syndrome. ( 27048950 )
2016
41
Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000-2015). ( 27512878 )
2016
42
Shulman disease (eosinophilic fasciitis) in X-linked agammaglobulinemia. ( 27543875 )
2016
43
Intracranial abscess as a complication of X-linked agammaglobulinemia. ( 27550432 )
2016
44
X-linked agammaglobulinemia: Twenty years of single-center experience from North West India. ( 27593100 )
2016
45
Treatment of Chronic Enterovirus Encephalitis With Fluoxetine in a Patient With X-Linked Agammaglobulinemia. ( 27640319 )
2016
46
Gastric Adenocarcinoma in a Patient with X-Linked Agammaglobulinemia and HIV: Case Report and Review of the Literature. ( 27722150 )
2016
47
A novel BTK gene mutation, c.82delC (p.Arg28 Alafs*5), in a Korean family with X-linked agammaglobulinemia. ( 28018445 )
2016
48
Case Report: Whole exome sequencing identifies a novel frameshift insertion c.1325dupT (p.F442fsX2) in the tyrosine kinase domain of BTK gene in a young Indian individual with X-linked agammaglobulinemia. ( 28928935 )
2016
49
X-linked agammaglobulinemia combined with juvenile idiopathic arthritis and invasive Klebsiella pneumoniae polyarticular septic arthritis. ( 24567239 )
2015
50
Identification by whole-exome sequencing of novel mutation c.64C > G in the BTK gene of a fetus with X-linked agammaglobulinemia. ( 25413018 )
2015
Sources

Variations for Agammaglobulinemia, X-Linked

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UniProtKB/Swiss-Prot genetic disease variations for Agammaglobulinemia, X-Linked:

76 (show top 50) (show all 110)
# Symbol AA change Variation ID SNP ID
1 BTK p.Leu11Pro VAR_006216
2 BTK p.Lys12Arg VAR_006217
3 BTK p.Ser14Phe VAR_006218
4 BTK p.Phe25Ser VAR_006219
5 BTK p.Arg28His VAR_006220 rs128620185
6 BTK p.Arg28Pro VAR_006221
7 BTK p.Thr33Pro VAR_006222 rs128620189
8 BTK p.Val64Phe VAR_006223
9 BTK p.Val113Asp VAR_006225 rs128621190
10 BTK p.Arg288Trp VAR_006227 rs128621194
11 BTK p.Leu295Pro VAR_006228
12 BTK p.Gly302Glu VAR_006230
13 BTK p.Arg307Gly VAR_006231 rs128621195
14 BTK p.Tyr334Ser VAR_006232 rs128621196
15 BTK p.Leu358Phe VAR_006233
16 BTK p.Tyr361Cys VAR_006234 rs28935478
17 BTK p.His362Gln VAR_006235
18 BTK p.His364Pro VAR_006236
19 BTK p.Asn365Tyr VAR_006237
20 BTK p.Ile370Met VAR_006238
21 BTK p.Leu408Pro VAR_006239 rs128621198
22 BTK p.Tyr418His VAR_006240 rs144079566
23 BTK p.Ile429Asn VAR_006241
24 BTK p.Lys430Glu VAR_006242 rs128620184
25 BTK p.Tyr476Asp VAR_006243
26 BTK p.Met477Arg VAR_006244
27 BTK p.Cys502Phe VAR_006245
28 BTK p.Cys502Trp VAR_006246 rs41310709
29 BTK p.Cys506Arg VAR_006247 rs128621200
30 BTK p.Cys506Tyr VAR_006248
31 BTK p.Met509Val VAR_006249
32 BTK p.Arg520Gln VAR_006251 rs128621202
33 BTK p.Asp521His VAR_006252
34 BTK p.Asp521Asn VAR_006253
35 BTK p.Arg525Pro VAR_006254
36 BTK p.Arg525Gln VAR_006255 rs128620183
37 BTK p.Asn526Lys VAR_006256
38 BTK p.Leu542Pro VAR_006257 rs128621203
39 BTK p.Arg544Lys VAR_006258
40 BTK p.Arg562Pro VAR_006259 rs104894770
41 BTK p.Arg562Trp VAR_006260 rs128621204
42 BTK p.Glu567Lys VAR_006261
43 BTK p.Trp581Arg VAR_006262 rs128621205
44 BTK p.Ala582Val VAR_006263
45 BTK p.Met587Leu VAR_006264
46 BTK p.Glu589Gly VAR_006265 rs128621206
47 BTK p.Ser592Pro VAR_006267
48 BTK p.Gly594Glu VAR_006268
49 BTK p.Gly594Arg VAR_006269
50 BTK p.Tyr598Cys VAR_006270

ClinVar genetic disease variations for Agammaglobulinemia, X-Linked:

6 (show top 50) (show all 153)
# Gene Variation Type Significance SNP ID Assembly Location
1 BTK NM_000061.2(BTK): c.1574G> A (p.Arg525Gln) single nucleotide variant Pathogenic rs128620183 GRCh37 Chromosome X, 100609675: 100609675
2 BTK NM_000061.2(BTK): c.1574G> A (p.Arg525Gln) single nucleotide variant Pathogenic rs128620183 GRCh38 Chromosome X, 101354687: 101354687
3 BTK NM_000061.2(BTK): c.1288A> G (p.Lys430Glu) single nucleotide variant Pathogenic rs128620184 GRCh37 Chromosome X, 100611833: 100611833
4 BTK NM_000061.2(BTK): c.1288A> G (p.Lys430Glu) single nucleotide variant Pathogenic rs128620184 GRCh38 Chromosome X, 101356845: 101356845
5 BTK NM_000061.2(BTK): c.37C> T (p.Arg13Ter) single nucleotide variant Pathogenic rs128620187 GRCh37 Chromosome X, 100630236: 100630236
6 BTK NM_000061.2(BTK): c.37C> T (p.Arg13Ter) single nucleotide variant Pathogenic rs128620187 GRCh38 Chromosome X, 101375248: 101375248
7 BTK NM_000061.2(BTK): c.43C> T (p.Gln15Ter) single nucleotide variant Pathogenic rs128620188 GRCh37 Chromosome X, 100630230: 100630230
8 BTK NM_000061.2(BTK): c.43C> T (p.Gln15Ter) single nucleotide variant Pathogenic rs128620188 GRCh38 Chromosome X, 101375242: 101375242
9 BTK NM_000061.2(BTK): c.1082A> G (p.Tyr361Cys) single nucleotide variant Pathogenic rs28935478 GRCh37 Chromosome X, 100613318: 100613318
10 BTK NM_000061.2(BTK): c.1082A> G (p.Tyr361Cys) single nucleotide variant Pathogenic rs28935478 GRCh38 Chromosome X, 101358330: 101358330
11 BTK NM_000061.2(BTK): c.83G> A (p.Arg28His) single nucleotide variant Pathogenic rs128620185 GRCh37 Chromosome X, 100630190: 100630190
12 BTK NM_000061.2(BTK): c.83G> A (p.Arg28His) single nucleotide variant Pathogenic rs128620185 GRCh38 Chromosome X, 101375202: 101375202
13 BTK NM_000061.2(BTK): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs128620186 GRCh37 Chromosome X, 100630271: 100630271
14 BTK NM_000061.2(BTK): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs128620186 GRCh38 Chromosome X, 101375283: 101375283
15 BTK NM_000061.2(BTK): c.97A> C (p.Thr33Pro) single nucleotide variant Pathogenic rs128620189 GRCh37 Chromosome X, 100630176: 100630176
16 BTK NM_000061.2(BTK): c.97A> C (p.Thr33Pro) single nucleotide variant Pathogenic rs128620189 GRCh38 Chromosome X, 101375188: 101375188
17 BTK NM_000061.2(BTK): c.228_231delAAGA (p.Glu76Aspfs) deletion Pathogenic rs864321660 GRCh37 Chromosome X, 100629533: 100629536
18 BTK NM_000061.2(BTK): c.228_231delAAGA (p.Glu76Aspfs) deletion Pathogenic rs864321660 GRCh38 Chromosome X, 101374545: 101374548
19 BTK NM_000061.2(BTK): c.141+3_141+4del deletion Pathogenic rs864321661 GRCh38 Chromosome X, 101375140: 101375141
20 BTK NM_000061.2(BTK): c.141+3_141+4del deletion Pathogenic rs864321661 GRCh37 Chromosome X, 100630128: 100630129
21 BTK NM_000061.2(BTK): c.310-1G> C single nucleotide variant Pathogenic rs864321662 GRCh37 Chromosome X, 100625068: 100625068
22 BTK NM_000061.2(BTK): c.310-1G> C single nucleotide variant Pathogenic rs864321662 GRCh38 Chromosome X, 101370080: 101370080
23 BTK NM_000061.2(BTK): c.310-2A> G single nucleotide variant Pathogenic rs864321663 GRCh38 Chromosome X, 101370081: 101370081
24 BTK NM_000061.2(BTK): c.310-2A> G single nucleotide variant Pathogenic rs864321663 GRCh37 Chromosome X, 100625069: 100625069
25 BTK NM_000061.2(BTK): c.338T> A (p.Val113Asp) single nucleotide variant Pathogenic rs128621190 GRCh37 Chromosome X, 100625039: 100625039
26 BTK NM_000061.2(BTK): c.338T> A (p.Val113Asp) single nucleotide variant Pathogenic rs128621190 GRCh38 Chromosome X, 101370051: 101370051
27 BTK NM_000061.2(BTK): c.389del (p.Asn130Thrfs) deletion Pathogenic rs864321664 GRCh37 Chromosome X, 100624988: 100624988
28 BTK NM_000061.2(BTK): c.389del (p.Asn130Thrfs) deletion Pathogenic rs864321664 GRCh38 Chromosome X, 101370000: 101370000
29 BTK NM_000061.2(BTK): c.557dupA (p.Pro187Alafs) duplication Pathogenic rs864321665 GRCh37 Chromosome X, 100617192: 100617192
30 BTK NM_000061.2(BTK): c.557dupA (p.Pro187Alafs) duplication Pathogenic rs864321665 GRCh38 Chromosome X, 101362204: 101362204
31 BTK NM_000061.2(BTK): c.588_588+1insCTACATAG insertion Pathogenic GRCh38 Chromosome X, 101362172: 101362173
32 BTK NM_000061.2(BTK): c.588_588+1insCTACATAG insertion Pathogenic GRCh37 Chromosome X, 100617160: 100617161
33 BTK NM_000061.2(BTK): c.653delA (p.Lys218Argfs) deletion Pathogenic GRCh37 Chromosome X, 100615679: 100615679
34 BTK NM_000061.2(BTK): c.653delA (p.Lys218Argfs) deletion Pathogenic GRCh38 Chromosome X, 101360691: 101360691
35 BTK NM_000061.2(BTK): c.718G> T (p.Glu240Ter) single nucleotide variant Pathogenic rs128621191 GRCh37 Chromosome X, 100615614: 100615614
36 BTK NM_000061.2(BTK): c.718G> T (p.Glu240Ter) single nucleotide variant Pathogenic rs128621191 GRCh38 Chromosome X, 101360626: 101360626
37 BTK NM_000061.2(BTK): c.755G> A (p.Trp252Ter) single nucleotide variant Pathogenic rs128621192 GRCh37 Chromosome X, 100615577: 100615577
38 BTK NM_000061.2(BTK): c.755G> A (p.Trp252Ter) single nucleotide variant Pathogenic rs128621192 GRCh38 Chromosome X, 101360589: 101360589
39 BTK NM_000061.2(BTK): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs128621193 GRCh37 Chromosome X, 100615569: 100615569
40 BTK NM_000061.2(BTK): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs128621193 GRCh38 Chromosome X, 101360581: 101360581
41 BTK NM_000061.2(BTK): c.839+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome X, 101360087: 101360087
42 BTK NM_000061.2(BTK): c.839+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome X, 100615075: 100615075
43 BTK BTK, 1-BP DEL/3-BP INS, CODON 261 indel Pathogenic
44 BTK NM_000061.2(BTK): c.862C> T (p.Arg288Trp) single nucleotide variant Likely pathogenic rs128621194 GRCh37 Chromosome X, 100614313: 100614313
45 BTK NM_000061.2(BTK): c.862C> T (p.Arg288Trp) single nucleotide variant Likely pathogenic rs128621194 GRCh38 Chromosome X, 101359325: 101359325
46 BTK NM_000061.2(BTK): c.919A> G (p.Arg307Gly) single nucleotide variant Pathogenic rs128621195 GRCh37 Chromosome X, 100613660: 100613660
47 BTK NM_000061.2(BTK): c.919A> G (p.Arg307Gly) single nucleotide variant Pathogenic rs128621195 GRCh38 Chromosome X, 101358672: 101358672
48 BTK NM_000061.2(BTK): c.1001A> C (p.Tyr334Ser) single nucleotide variant Pathogenic rs128621196 GRCh37 Chromosome X, 100613399: 100613399
49 BTK NM_000061.2(BTK): c.1001A> C (p.Tyr334Ser) single nucleotide variant Pathogenic rs128621196 GRCh38 Chromosome X, 101358411: 101358411
50 BTK BTK, 1-BP DEL, IVS11DS, +1G deletion Pathogenic
Sources

Expression for Agammaglobulinemia, X-Linked

About this section
Search GEO for disease gene expression data for Agammaglobulinemia, X-Linked.
Sources

Pathways for Agammaglobulinemia, X-Linked

About this section

Pathways related to Agammaglobulinemia, X-Linked according to GeneCards Suite gene sharing:

(show all 39)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 67
Show member pathways
 13.82 BTK CD40 CD40LG CD79A ITK PLCG2
2
Class I MHC mediated antigen processing and presentation 67
Show member pathways
 13.21 BTK CD40 CD40LG CD79A ITK PLCG2
3
Akt Signaling 65
Show member pathways
 13.2 BTK CD40 CD40LG CXCL12 ITK PLCG2
4
CREB Pathway 65
Show member pathways
 13.14 BTK CD79A CXCL12 ITK PLCG2 SRC
5
PAK Pathway 65
Show member pathways
 13.11 BTK CD40 CD40LG CXCL12 PLCG2 SRC
6
IL-2 Pathway 65
Show member pathways
 13.03 BTK CD40 CD79A PLCG2 SRC
7
Phospholipase-C Pathway 65
Show member pathways
 12.85 BTK CD79A CXCL12 ITK PLCG2 SRC
8
TCR Signaling (Qiagen) 65
Show member pathways
 12.75 BTK ITK PLCG2 SRC
9
Allograft rejection 38 1
Show member pathways
 12.71 CD40 CD40LG CXCL12 ITK
10
CCR5 Pathway in Macrophages 65
Show member pathways
 12.71 CXCL12 ITK PLCG2 SRC
11
Downstream signaling events of B Cell Receptor (BCR) 67
Show member pathways
 12.56 BTK CD79A PLCG2 SRC
12
Development Angiotensin activation of ERK 23
Show member pathways
 12.52 BTK CD40 CD40LG CD79A CXCL12 IGHM
13
Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways 66
Show member pathways
 12.48 CXCL12 ITK PLCG2 SRC
14
TRAF Pathway 65
Show member pathways
 12.45 BTK CD40 CD40LG PLCG2 SRC
15
Immune response Fc epsilon RI pathway 23
Show member pathways
 12.41 BTK CD79A IGHM ITK PLCG2 SRC
16
ICos-ICosL Pathway in T-Helper Cell 65
Show member pathways
 12.24 CD40 CD40LG ITK PLCG2
17
G-protein signaling G-Protein alpha-i signaling cascades 23
Show member pathways
 12.22 BTK PLCG2 SRC
18
B cell receptor signaling pathway (KEGG) 38
Show member pathways
 12.22 BTK CD79A PLCG2 SH3BP5
19
Development A3 receptor signaling 23
Show member pathways
 12.17 BTK PLCG2 SRC
20
Regulation of actin dynamics for phagocytic cup formation 67
Show member pathways
 12.14 BTK PLCG2 SRC
21
Axon guidance 38
12.07 CXCL12 PLCG2 SRC
22
Immune response NFAT in immune response 23
Show member pathways
 12.06 BTK CD40 CD40LG CD79A IGHM ITK
23
C-type lectin receptor signaling pathway 38
Show member pathways
 12.05 BTK PLCG2 SRC
24
G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins 23
Show member pathways
 12.04 BTK CXCL12 ITK PLCG2 SRC
25
Tyrosine Kinases / Adaptors 4
11.97 BTK ITK SH2D1A SRC
26
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell 67
11.92 CD40 CD40LG SH2D1A
27
Immune response IFN gamma signaling pathway 23
Show member pathways
 11.91 BTK CXCL12 PLCG2 SRC
28
Fc-GammaR Pathway 65
Show member pathways
 11.9 BTK CD79A PLCG2
29
Platelet activation 38
11.87 BTK PLCG2 SRC
30
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers 67
Show member pathways
 11.78 BTK CD79A ITK PLCG2
31
Development EPO-induced Jak-STAT pathway 23
Show member pathways
 11.75 BTK PLCG2 SRC
32
NF-kappaB Signaling 4
11.68 BTK CD40LG CD79A CXCL12 ITK PLCG2
33
NF-kappa B signaling pathway 38
11.65 BTK CD40 CD40LG CXCL12 PLCG2
34
Class I PI3K signaling events 1
11.28 BTK ITK PLCG2 SRC
35
Inflammatory Response Pathway 1
11.19 CD40 CD40LG
36
Primary immunodeficiency 38
11.19 BTK CD40 CD40LG CD79A
37
A-beta Pathways: Uptake and Degradation 66
11.17 CD40 CD40LG
38
CD40/CD40L signaling 1
11.13 CD40 CD40LG
39
G-protein signaling_RhoB regulation pathway 23
11.05 BTK CD40LG CXCL12
Sources

GO Terms for Agammaglobulinemia, X-Linked

About this section

Cellular components related to Agammaglobulinemia, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.02 CD40 CD40LG CD79A CXCL12 IGHM

Biological processes related to Agammaglobulinemia, X-Linked according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 intracellular signal transduction GO:0035556 9.83 BTK ITK PLCG2 SH3BP5 SRC
2 regulation of immune response GO:0050776 9.73 CD40 CD40LG SH2D1A
3 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.7 BTK CD40 CD40LG
4 T cell receptor signaling pathway GO:0050852 9.69 BTK ITK PLCG2
5 Fc-epsilon receptor signaling pathway GO:0038095 9.67 BTK ITK PLCG2
6 B cell differentiation GO:0030183 9.65 CD40LG CD79A PLCG2
7 B cell proliferation GO:0042100 9.58 CD40 CD40LG CD79A
8 cellular response to reactive oxygen species GO:0034614 9.57 BTK SRC
9 platelet activation GO:0030168 9.56 CD40 CD40LG PLCG2 SRC
10 positive regulation of interleukin-12 production GO:0032735 9.55 CD40 CD40LG
11 adaptive immune response GO:0002250 9.55 BTK CD79A IGHM ITK SH2D1A
12 positive regulation of endothelial cell apoptotic process GO:2000353 9.54 CD40 CD40LG
13 peptidyl-tyrosine autophosphorylation GO:0038083 9.54 BTK ITK SRC
14 B cell activation GO:0042113 9.5 BTK CD40 CD79A
15 regulation of immunoglobulin secretion GO:0051023 9.46 CD40 CD40LG
16 B cell receptor signaling pathway GO:0050853 9.35 BTK CD79A IGHM ITK PLCG2
17 immune system process GO:0002376 9.17 BTK CD40 CD79A IGHM ITK SH2D1A

Molecular functions related to Agammaglobulinemia, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.7 BTK CD40 CD40LG CD79A CXCL12 IGHM
2 protein tyrosine kinase activity GO:0004713 9.33 BTK ITK SRC
3 non-membrane spanning protein tyrosine kinase activity GO:0004715 8.8 BTK ITK SRC
Sources

Sources for Agammaglobulinemia, X-Linked

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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