MCID: AGM019
MIFTS: 68

Agammaglobulinemia, X-Linked

Categories: Genetic diseases, Rare diseases, Blood diseases, Immune diseases

Aliases & Classifications for Agammaglobulinemia, X-Linked

MalaCards integrated aliases for Agammaglobulinemia, X-Linked:

Name: Agammaglobulinemia, X-Linked 57
X-Linked Agammaglobulinemia 12 76 24 53 25 59 75 29 55 6 73
Bruton Type Agammaglobulinemia 76 53 59 44
Xla 57 53 25 75
Bruton-Type Agammaglobulinemia 57 12 15
Agammaglobulinemia, X-Linked 1 57 29 13
Bruton's Agammaglobulinemia 53 25
Hypogammaglobulinemia 25 73
Agammaglobulinemia 25 73
Btk-Deficiency 53 59
Agmx1 57 75
Imd1 57 75
Bruton Agammaglobulinemia Tyrosine Kinase Deficiency 12
Agammaglobulinemia, X-Linked, Type 1; Agmx1 57
Agammaglobulinemia, Bruton Tyrosine Kinase 53
Bruton Agammaglobulinemia Tyrosine Kinase 13
Bruton's Sex-Linked Agammaglobulinemia 12
Agammaglobulinemia, X-Linked, Type 1 57
X-Linked Agammaglobulinemia Type 1 75
Bruton's Type Agammaglobulinemia 12
Agammaglobulinemia, X-Linked ) 40
Congenital Agammaglobulinemia 25
Bruton's Agammaglobulinaemia 12
Immunodeficiency 1; Imd1 57
Agammaglobulinemia, Btk 53
Immunodeficiency Type 1 75
Immunodeficiency 1 57
Btk Deficiency 12

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
x-linked recessive

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


HPO:

32
agammaglobulinemia, x-linked:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


Summaries for Agammaglobulinemia, X-Linked

NIH Rare Diseases : 53 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 agammaglobulinemia, non-bruton type and agammaglobulinemia 1, autosomal recessive, 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 Class I MHC mediated antigen processing and presentation and Integrin Pathway. The drugs Hyaluronic acid and Adjuvants, Immunologic 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

OMIM : 57 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). See agammaglobulinemia-1 (AGM1; 601495) for a discussion of genetic heterogeneity of the autosomal forms of agammaglobulinemia. (300755)

UniProtKB/Swiss-Prot : 75 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.

Genetics Home Reference : 25 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.

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.

Wikipedia : 76 X-linked agammaglobulinemia (XLA) is a rare genetic disorder discovered in 1952 that affects the body\'s... more...

GeneReviews:

Related Diseases for Agammaglobulinemia, X-Linked

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



Diseases related to Agammaglobulinemia, X-Linked

Symptoms & Phenotypes for Agammaglobulinemia, X-Linked

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
encephalitis
meningitis
delayed speech acquisition

Abdomen Gastrointestinal:
diarrhea

Head And Neck Eyes:
conjunctivitis

GenitourinaryInternal GenitaliaMale:
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

Human phenotypes related to Agammaglobulinemia, X-Linked:

59 32 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
2 chronic otitis media 59 32 hallmark (90%) Very frequent (99-80%) HP:0000389
3 arthritis 59 32 frequent (33%) Frequent (79-30%) HP:0001369
4 malabsorption 59 32 occasional (7.5%) Occasional (29-5%) HP:0002024
5 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
6 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
7 fever 59 32 hallmark (90%) Very frequent (99-80%) HP:0001945
8 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
9 immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002721
10 hepatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012115
11 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
12 glossoptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000162
13 neoplasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0002664
14 weight loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0001824
15 sinusitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000246
16 alopecia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001596
17 autoimmunity 59 32 occasional (7.5%) Occasional (29-5%) HP:0002960
18 thrombocytopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001873
19 skin ulcer 59 32 hallmark (90%) Very frequent (99-80%) HP:0200042
20 hypopigmented skin patches 59 32 occasional (7.5%) Occasional (29-5%) HP:0001053
21 hypocalcemia 59 32 frequent (33%) Frequent (79-30%) HP:0002901
22 abnormality of the tonsils 59 32 hallmark (90%) Very frequent (99-80%) HP:0100765
23 osteomyelitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002754
24 conjunctivitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000509
25 skin rash 59 32 hallmark (90%) Very frequent (99-80%) HP:0000988
26 meningitis 59 32 frequent (33%) Frequent (79-30%) HP:0001287
27 neutropenia 59 32 frequent (33%) Frequent (79-30%) HP:0001875
28 chronic diarrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002028
29 agammaglobulinemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004432
30 recurrent pneumonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0006532
31 cellulitis 59 32 frequent (33%) Frequent (79-30%) HP:0100658
32 sepsis 59 32 frequent (33%) Frequent (79-30%) HP:0100806
33 recurrent cutaneous abscess formation 59 32 hallmark (90%) Very frequent (99-80%) HP:0100838
34 encephalitis 32 HP:0002383
35 hearing impairment 32 HP:0000365
36 delayed speech and language development 32 HP:0000750
37 abnormality of the lymphatic system 59 Very frequent (99-80%)
38 diarrhea 32 HP:0002014
39 otitis media 32 HP:0000388
40 abnormality of lung morphology 59 Frequent (79-30%)
41 recurrent urinary tract infections 32 HP:0000010
42 pneumonia 32 HP:0002090
43 prostatitis 32 HP:0000024
44 septic arthritis 32 HP:0003095
45 epididymitis 32 HP:0000031
46 pyoderma 32 HP:0000999
47 cor pulmonale 32 HP:0001648
48 enteroviral hepatitis 32 HP:0001412
49 enteroviral dermatomyositis syndrome 32 HP:0003729
50 lymph node hypoplasia 32 HP:0002732

UMLS symptoms related to Agammaglobulinemia, X-Linked:


diarrhea

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

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.16 BCR
2 Decreased viability GR00221-A-1 10.16 BTK
3 Decreased viability GR00221-A-2 10.16 BCR BTK
4 Decreased viability GR00221-A-3 10.16 BTK
5 Decreased viability GR00221-A-4 10.16 BCR BTK ITK
6 Decreased viability GR00301-A 10.16 BCR BTK ITK SRC
7 Decreased viability GR00342-S-1 10.16 ITK
8 Decreased viability GR00342-S-2 10.16 ITK
9 Decreased viability GR00342-S-3 10.16 BCR ITK
10 Decreased viability GR00402-S-2 10.16 BCR BTK ITK SRC
11 Decreased viability in HMC1.1 cells GR00105-A-0 8.96 ITK SRC
12 Increased cell migration GR00055-A-3 8.8 ITK PLCG2 BCR

MGI Mouse Phenotypes related to Agammaglobulinemia, X-Linked:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.7 BCR BTK ITK PLCG2 SRC TLR9
2 hematopoietic system MP:0005397 9.5 BCR BTK ITK PLCG2 SRC TLR9
3 immune system MP:0005387 9.17 BCR BTK ITK PLCG2 SRC TLR9

Drugs & Therapeutics for Agammaglobulinemia, X-Linked

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

(show top 50) (show all 62)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
2 Adjuvants, Immunologic Phase 4
3 Protective Agents Phase 4,Not Applicable
4 Viscosupplements Phase 4
5 Antibodies Phase 4,Phase 3,Not Applicable
6 gamma-Globulins Phase 4,Phase 3
7 Immunoglobulins Phase 4,Phase 3,Not Applicable
8 Immunoglobulins, Intravenous Phase 4,Phase 3
9 Rho(D) Immune Globulin Phase 4,Phase 3
10 Immunoglobulin G Phase 4,Phase 3
11
alemtuzumab Approved, Investigational Phase 2 216503-57-0
12
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
13
Melphalan Approved Phase 2 148-82-3 4053 460612
14
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
15 Alkylating Agents Phase 2,Not Applicable
16 Antimetabolites Phase 2,Not Applicable
17 Antimetabolites, Antineoplastic Phase 2,Not Applicable
18 Antineoplastic Agents, Alkylating Phase 2,Not Applicable
19 Immunosuppressive Agents Phase 2,Not Applicable
20
Busulfan Approved, Investigational Not Applicable 55-98-1 2478
21
Cyclophosphamide Approved, Investigational Not Applicable 50-18-0, 6055-19-2 2907
22
Etoposide Approved Not Applicable 33419-42-0 36462
23
Methotrexate Approved Not Applicable 1959-05-2, 59-05-2 126941
24
Methylprednisolone Approved, Vet_approved Not Applicable 83-43-2 6741
25
Miconazole Approved, Investigational, Vet_approved Not Applicable 22916-47-8 4189
26
Prednisolone Approved, Vet_approved Not Applicable 50-24-8 5755
27
Prednisone Approved, Vet_approved Not Applicable 53-03-2 5865
28
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
29
leucovorin Approved, Nutraceutical Not Applicable 58-05-9 143 6006
30 Vaccines Not Applicable
31 Antiemetics Not Applicable
32 Antifungal Agents Not Applicable
33 Anti-Infective Agents Not Applicable
34 Anti-Inflammatory Agents Not Applicable
35 Antilymphocyte Serum Not Applicable
36 Antineoplastic Agents, Hormonal Not Applicable
37 Antineoplastic Agents, Phytogenic Not Applicable
38 Antirheumatic Agents Not Applicable
39 Autonomic Agents Not Applicable
40 Calcineurin Inhibitors Not Applicable
41 Complement System Proteins Not Applicable
42 Cyclosporins Not Applicable
43 Dermatologic Agents Not Applicable
44 Etoposide phosphate Not Applicable
45 Folic Acid Antagonists Not Applicable
46 Gastrointestinal Agents Not Applicable
47 glucocorticoids Not Applicable
48 Hormone Antagonists Not Applicable
49 Hormones Not Applicable
50 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable

Interventional clinical trials:

(show all 12)
# 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 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
9 Mutation of the BTK Gene and Genotype-phenotype Correlation of Chinese Patients With X-Linked Agammaglobulinemia Unknown status NCT02234791
10 Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders Unknown status NCT00004341
11 Assessment of Immunogenicity of Zostavax® in Patients With Antibody Deficiency 60 Years of Age and Older Terminated NCT02960399 Not Applicable
12 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

Genetic Tests for Agammaglobulinemia, X-Linked

Genetic tests related to Agammaglobulinemia, X-Linked:

# Genetic test Affiliating Genes
1 X-Linked Agammaglobulinemia 29 BTK
2 Agammaglobulinemia, X-Linked 1 29

Anatomical Context for Agammaglobulinemia, X-Linked

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

41
B Cells, Skin, Bone, Bone Marrow, Lung, Lymph Node, Tonsil

Publications for Agammaglobulinemia, X-Linked

Articles related to Agammaglobulinemia, X-Linked:

(show top 50) (show all 337)
# Title Authors Year
1
Emergence of Carbapenem Non-susceptible Campylobacter coli after Long-term Treatment against Recurrent Bacteremia in a Patient with X-linked Agammaglobulinemia. ( 29491300 )
2018
2
Kappa-deleting recombination excision circle levels remain low or undetectable throughout life in patients with X-linked agammaglobulinemia. ( 29543351 )
2018
3
X-linked agammaglobulinemia complicated with pulmonary aspergillosis. ( 29356289 )
2018
4
<i>Helicobacter cinaedi</i> bacteremia mimicking eosinophilic fasciitis in a patient with X-linked agammaglobulinemia. ( 29693060 )
2018
5
An X-linked agammaglobulinemia contiguous gene syndrome with metachronous coprimary testicular cancers. ( 29307603 )
2018
6
Delayed diagnosis in X-linked agammaglobulinemia and its relationship to the occurrence of mutations in BTK non-kinase domains. ( 29202590 )
2018
7
Clinical and Genetic Features of the Patients with X-Linked Agammaglobulinemia from Turkey: Single Center Experience. ( 29424453 )
2018
8
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
9
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
10
Large BTK gene mutation in a child with X-linked agammaglobulinemia and polyarthritis. ( 28807838 )
2017
11
Helicobacter bilis-Associated Suppurative Cholangitis in a Patient with X-Linked Agammaglobulinemia. ( 28856582 )
2017
12
IVIG-triggered tubulointerstitial nephritis in X-linked agammaglobulinemia. ( 28707726 )
2017
13
X-linked agammaglobulinemia - first case with Bruton tyrosine kinase mutation from Pakistan. ( 28304004 )
2017
14
A child with X-linked agammaglobulinemia and Kawasaki disease: an unusual association. ( 28365793 )
2017
15
Gastrointestinal Manifestations in X-linked Agammaglobulinemia. ( 28236219 )
2017
16
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
17
The lack of BTK does not impair monocytes and polymorphonuclear cells functions in X-linked agammaglobulinemia under treatment with intravenous immunoglobulin replacement. ( 28422989 )
2017
18
Gastrointestinal disorders next to respiratory infections as leading symptoms of X-linked agammaglobulinemia in children - 34-year experience of a single center. ( 28261296 )
2017
19
Pyoderma Gangrenosum in a Patient with X-Linked Agammaglobulinemia. ( 28761297 )
2017
20
Pseudomonas aeruginosa Liver Abscess as the First Manifestation of X-Linked Agammaglobulinemia With a Novel Mutation. ( 28398200 )
2017
21
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
22
X-linked agammaglobulinemia: Twenty years of single-center experience from North West India. ( 27593100 )
2016
23
Gastric Adenocarcinoma in a Patient with X-Linked Agammaglobulinemia and HIV: Case Report and Review of the Literature. ( 27722150 )
2016
24
Intracranial abscess as a complication of X-linked agammaglobulinemia. ( 27550432 )
2016
25
Shulman disease (eosinophilic fasciitis) in X-linked agammaglobulinemia. ( 27543875 )
2016
26
Clinical and mutational features of X-linked agammaglobulinemia in Mexico. ( 26960951 )
2016
27
Treatment of Chronic Enterovirus Encephalitis With Fluoxetine in a Patient With X-Linked Agammaglobulinemia. ( 27640319 )
2016
28
Helicobacter cinaedi bacteremia resulting from antimicrobial resistance acquired during treatment for X-linked agammaglobulinemia. ( 27040158 )
2016
29
Spondylodiscitis in a Boy with X-linked Agammaglobulinemia: an Unusual Occurrence. ( 26961362 )
2016
30
Enteroviruses in X-Linked Agammaglobulinemia: Update on Epidemiology and Therapy. ( 26883540 )
2016
31
Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000-2015). ( 27512878 )
2016
32
X-linked Agammaglobulinemia. ( 26909497 )
2016
33
Allogeneic stem cell transplantation for X-linked agammaglobulinemia using reduced intensity conditioning as a model of the reconstitution of humoral immunity. ( 26873735 )
2016
34
A novel BTK gene mutation, c.82delC (p.Arg28 Alafs(*)5), in a Korean family with X-linked agammaglobulinemia. ( 28018445 )
2016
35
Evolving practice: x-linked agammaglobulinemia and lung transplantation. ( 25736826 )
2015
36
A novel BTK gene mutation creates a de-novo splice site in an X-linked agammaglobulinemia patient. ( 25680287 )
2015
37
X-linked agammaglobulinemia in a child conceived using a donor egg:A a medicolegal quandary. ( 25704966 )
2015
38
PROTECTIVE LEVELS OF VARICELLA-ZOSTER ANTIBODY DID NOT EFFECTIVELY PREVENT CHICKENPOX IN AN X-LINKED AGAMMAGLOBULINEMIA PATIENT. ( 26603238 )
2015
39
High-throughput sequencing reveals an altered T cell repertoire in X-linked agammaglobulinemia. ( 26360253 )
2015
40
X-linked agammaglobulinemia in two siblings with a novel mutation in the BTK gene who presented with polyarticular juvenile idiopathic arthritis. ( 25757060 )
2015
41
[X-linked agammaglobulinemia: experience in a Portuguese hospital]. ( 25443324 )
2015
42
Are patients with X-linked agammaglobulinemia at increased risk of developing acute lymphoblastic leukemia? ( 25631529 )
2015
43
X-linked agammaglobulinemia associated with B-precursor acute lymphoblastic leukemia. ( 25591849 )
2015
44
Splice-correction strategies for treatment of x-linked agammaglobulinemia. ( 25638286 )
2015
45
Successful hematopoietic cell transplantation in a patient with X-linked agammaglobulinemia and acute myeloid leukemia. ( 25900577 )
2015
46
X-linked Agammaglobulinemia With Normal Immunoglobulin and Near-Normal Vaccine Seroconversion. ( 26527549 )
2015
47
Membranoproliferative glomerulonephritis and x-linked agammaglobulinemia: an uncommon association. ( 24716070 )
2014
48
X linked agammaglobulinemia: a single centre experience from India. ( 23873299 )
2014
49
X-linked agammaglobulinemia with hearing impairment, dystonia-parkinsonism, and progressive neurodegeneration. ( 25270678 )
2014
50
X-linked agammaglobulinemia presenting as polymicrobial pneumonia, including Pneumocystis jirovecii. ( 24331399 )
2014

Variations for Agammaglobulinemia, X-Linked

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

75 (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 137)
# 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.83G> A (p.Arg28His) single nucleotide variant Pathogenic rs128620185 GRCh37 Chromosome X, 100630190: 100630190
10 BTK NM_000061.2(BTK): c.83G> A (p.Arg28His) single nucleotide variant Pathogenic rs128620185 GRCh38 Chromosome X, 101375202: 101375202
11 BTK NM_000061.2(BTK): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs128620186 GRCh37 Chromosome X, 100630271: 100630271
12 BTK NM_000061.2(BTK): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs128620186 GRCh38 Chromosome X, 101375283: 101375283
13 BTK NM_000061.2(BTK): c.97A> C (p.Thr33Pro) single nucleotide variant Pathogenic rs128620189 GRCh37 Chromosome X, 100630176: 100630176
14 BTK NM_000061.2(BTK): c.97A> C (p.Thr33Pro) single nucleotide variant Pathogenic rs128620189 GRCh38 Chromosome X, 101375188: 101375188
15 BTK NM_000061.2(BTK): c.228_231delAAGA (p.Glu76Aspfs) deletion Pathogenic rs864321660 GRCh37 Chromosome X, 100629533: 100629536
16 BTK NM_000061.2(BTK): c.228_231delAAGA (p.Glu76Aspfs) deletion Pathogenic rs864321660 GRCh38 Chromosome X, 101374545: 101374548
17 BTK NM_000061.2(BTK): c.141+3_141+4del deletion Pathogenic rs864321661 GRCh38 Chromosome X, 101375140: 101375141
18 BTK NM_000061.2(BTK): c.141+3_141+4del deletion Pathogenic rs864321661 GRCh37 Chromosome X, 100630128: 100630129
19 BTK NM_000061.2(BTK): c.310-1G> C single nucleotide variant Pathogenic rs864321662 GRCh37 Chromosome X, 100625068: 100625068
20 BTK NM_000061.2(BTK): c.310-1G> C single nucleotide variant Pathogenic rs864321662 GRCh38 Chromosome X, 101370080: 101370080
21 BTK NM_000061.2(BTK): c.310-2A> G single nucleotide variant Pathogenic rs864321663 GRCh38 Chromosome X, 101370081: 101370081
22 BTK NM_000061.2(BTK): c.310-2A> G single nucleotide variant Pathogenic rs864321663 GRCh37 Chromosome X, 100625069: 100625069
23 BTK NM_000061.2(BTK): c.338T> A (p.Val113Asp) single nucleotide variant Pathogenic rs128621190 GRCh37 Chromosome X, 100625039: 100625039
24 BTK NM_000061.2(BTK): c.338T> A (p.Val113Asp) single nucleotide variant Pathogenic rs128621190 GRCh38 Chromosome X, 101370051: 101370051
25 BTK NM_000061.2(BTK): c.389delA (p.Asn130Thrfs) deletion Pathogenic rs864321664 GRCh37 Chromosome X, 100624988: 100624988
26 BTK NM_000061.2(BTK): c.389delA (p.Asn130Thrfs) deletion Pathogenic rs864321664 GRCh38 Chromosome X, 101370000: 101370000
27 BTK NM_000061.2(BTK): c.557dupA (p.Pro187Alafs) duplication Pathogenic rs864321665 GRCh37 Chromosome X, 100617192: 100617192
28 BTK NM_000061.2(BTK): c.557dupA (p.Pro187Alafs) duplication Pathogenic rs864321665 GRCh38 Chromosome X, 101362204: 101362204
29 BTK BTK, 8-BP INS, NT721 insertion Pathogenic
30 BTK BTK, 1-BP DEL, CODON 218, A deletion Pathogenic
31 BTK NM_000061.2(BTK): c.718G> T (p.Glu240Ter) single nucleotide variant Pathogenic rs128621191 GRCh37 Chromosome X, 100615614: 100615614
32 BTK NM_000061.2(BTK): c.718G> T (p.Glu240Ter) single nucleotide variant Pathogenic rs128621191 GRCh38 Chromosome X, 101360626: 101360626
33 BTK NM_000061.2(BTK): c.755G> A (p.Trp252Ter) single nucleotide variant Pathogenic rs128621192 GRCh37 Chromosome X, 100615577: 100615577
34 BTK NM_000061.2(BTK): c.755G> A (p.Trp252Ter) single nucleotide variant Pathogenic rs128621192 GRCh38 Chromosome X, 101360589: 101360589
35 BTK NM_000061.2(BTK): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs128621193 GRCh37 Chromosome X, 100615569: 100615569
36 BTK NM_000061.2(BTK): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs128621193 GRCh38 Chromosome X, 101360581: 101360581
37 BTK BTK, IVS9DS, G-A, +1 single nucleotide variant Pathogenic
38 BTK BTK, 1-BP DEL/3-BP INS, CODON 261 indel Pathogenic
39 BTK NM_000061.2(BTK): c.862C> T (p.Arg288Trp) single nucleotide variant Pathogenic rs128621194 GRCh37 Chromosome X, 100614313: 100614313
40 BTK NM_000061.2(BTK): c.862C> T (p.Arg288Trp) single nucleotide variant Pathogenic rs128621194 GRCh38 Chromosome X, 101359325: 101359325
41 BTK NM_000061.2(BTK): c.919A> G (p.Arg307Gly) single nucleotide variant Pathogenic rs128621195 GRCh37 Chromosome X, 100613660: 100613660
42 BTK NM_000061.2(BTK): c.919A> G (p.Arg307Gly) single nucleotide variant Pathogenic rs128621195 GRCh38 Chromosome X, 101358672: 101358672
43 BTK NM_000061.2(BTK): c.1001A> C (p.Tyr334Ser) single nucleotide variant Pathogenic rs128621196 GRCh37 Chromosome X, 100613399: 100613399
44 BTK NM_000061.2(BTK): c.1001A> C (p.Tyr334Ser) single nucleotide variant Pathogenic rs128621196 GRCh38 Chromosome X, 101358411: 101358411
45 BTK BTK, 1-BP DEL, IVS11DS, +1G deletion Pathogenic
46 BTK BTK, IVS12AS, A-T, -2 single nucleotide variant Pathogenic
47 BTK BTK, 16-BP INS, NT1263 insertion Pathogenic
48 BTK NM_000061.2(BTK): c.1223T> C (p.Leu408Pro) single nucleotide variant Pathogenic rs128621198 GRCh37 Chromosome X, 100611898: 100611898
49 BTK NM_000061.2(BTK): c.1223T> C (p.Leu408Pro) single nucleotide variant Pathogenic rs128621198 GRCh38 Chromosome X, 101356910: 101356910
50 BTK NM_000061.2(BTK): c.1275C> A (p.Tyr425Ter) single nucleotide variant Pathogenic rs128621199 GRCh37 Chromosome X, 100611846: 100611846

Expression for Agammaglobulinemia, X-Linked

Search GEO for disease gene expression data for Agammaglobulinemia, X-Linked.

Pathways for Agammaglobulinemia, X-Linked

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

(show all 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.19 BTK ITK PLCG2 SRC WAS
2
Show member pathways
13.13 BTK ITK PLCG2 SRC WAS
3
Show member pathways
13.08 BTK ITK PLCG2 SRC TLR9 WAS
4
Show member pathways
12.82 BTK ITK PLCG2 SRC
5
Show member pathways
12.77 BCR BTK SRC WAS
6
Show member pathways
12.68 BTK IGHM PLCG2 SRC
7
Show member pathways
12.6 ITK PLCG2 SRC WAS
8
Show member pathways
12.54 BTK ITK PLCG2 SRC WAS
9
Show member pathways
12.52 BTK PLCG2 SRC TLR9
10 12.29 BTK ITK PLCG2 TLR9
11
Show member pathways
12.26 BTK IGHM ITK PLCG2
12
Show member pathways
12.14 ITK PLCG2 WAS
13
Show member pathways
12.12 BTK PLCG2 SH3BP5
14
Show member pathways
12.11 BTK PLCG2 SRC
15
Show member pathways
12.11 BTK PLCG2 SRC TLR9
16
Show member pathways
12.06 BTK PLCG2 SRC
17
Show member pathways
11.93 BTK PLCG2 SRC WAS
18
Show member pathways
11.89 BTK IGHM ITK PLCG2 SRC
19
Show member pathways
11.8 BTK PLCG2 SRC TLR9
20 11.79 BTK PLCG2 SRC
21
Show member pathways
11.71 BTK ITK PLCG2
22
Show member pathways
11.66 BTK PLCG2 SRC
23 11.63 BCR BTK ITK SRC
24 11.29 BTK SRC
25 11.16 BCR SRC
26 10.54 BTK ITK PLCG2 SRC

GO Terms for Agammaglobulinemia, X-Linked

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

# Name GO ID Score Top Affiliating Genes
1 intracellular GO:0005622 9.35 BCR BTK ITK PLCG2 SH3BP5
2 extrinsic component of cytoplasmic side of plasma membrane GO:0031234 8.8 BTK ITK SRC

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.88 BCR BTK ITK SRC
2 protein phosphorylation GO:0006468 9.84 BCR BTK ITK SRC
3 adaptive immune response GO:0002250 9.77 BTK IGHM ITK
4 immune system process GO:0002376 9.77 BTK IGHM ITK SRC TLR9
5 regulation of cell proliferation GO:0042127 9.76 BTK ITK SRC
6 innate immune response GO:0045087 9.72 BTK IGHM ITK SRC TLR9
7 Fc-epsilon receptor signaling pathway GO:0038095 9.69 BTK ITK PLCG2
8 protein autophosphorylation GO:0046777 9.67 BCR BTK SRC
9 peptidyl-tyrosine phosphorylation GO:0018108 9.65 BCR BTK SRC
10 Fc-gamma receptor signaling pathway involved in phagocytosis GO:0038096 9.63 PLCG2 SRC WAS
11 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.61 BTK ITK SRC
12 T cell activation GO:0042110 9.6 ITK WAS
13 cellular response to reactive oxygen species GO:0034614 9.57 BTK SRC
14 MyD88-dependent toll-like receptor signaling pathway GO:0002755 9.56 BTK TLR9
15 platelet-derived growth factor receptor signaling pathway GO:0048008 9.55 BCR SRC
16 T cell receptor signaling pathway GO:0050852 9.46 BTK ITK PLCG2 WAS
17 peptidyl-tyrosine autophosphorylation GO:0038083 9.43 BTK ITK SRC
18 regulation of vascular permeability GO:0043114 9.4 BCR SRC
19 B cell receptor signaling pathway GO:0050853 9.26 BTK IGHM ITK PLCG2
20 intracellular signal transduction GO:0035556 9.1 BCR BTK ITK PLCG2 SH3BP5 SRC
21 signal transduction GO:0007165 10 BCR ITK PLCG2 SH3BP5 SRC TLR9

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

# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.46 BCR BTK ITK SRC
2 non-membrane spanning protein tyrosine kinase activity GO:0004715 9.13 BTK ITK SRC
3 protein tyrosine kinase activity GO:0004713 8.92 BCR BTK ITK SRC

Sources for Agammaglobulinemia, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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