XLA
MCID: AGM019
MIFTS: 71

Agammaglobulinemia, X-Linked (XLA)

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

Aliases & Classifications for Agammaglobulinemia, X-Linked

MalaCards integrated aliases for Agammaglobulinemia, X-Linked:

Name: Agammaglobulinemia, X-Linked 56 39
X-Linked Agammaglobulinemia 12 74 24 52 25 58 73 29 54 6 15 71
Xla 56 24 52 25 73
Bruton Type Agammaglobulinemia 74 52 58 43
Agammaglobulinemia, X-Linked 1 56 29 13
Bruton's Agammaglobulinemia 24 52 25
Hypogammaglobulinemia 25 54 71
Bruton-Type Agammaglobulinemia 56 12
Agammaglobulinemia 25 71
Btk-Deficiency 52 58
Agmx1 56 73
Imd1 56 73
Bruton Agammaglobulinemia Tyrosine Kinase Deficiency 12
Agammaglobulinemia, X-Linked, Type 1; Agmx1 56
Agammaglobulinemia, Bruton Tyrosine Kinase 52
Bruton's Sex-Linked Agammaglobulinemia 12
Agammaglobulinemia, X-Linked, Type 1 56
X-Linked Agammaglobulinemia Type 1 73
Bruton's Type Agammaglobulinemia 12
Congenital Agammaglobulinemia 25
Bruton's Agammaglobulinaemia 12
Immunodeficiency 1; Imd1 56
Agammaglobulinemia, Btk 52
Immunodeficiency Type 1 73
Immunodeficiency 1 56
Btk Deficiency 12

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
x-linked recessive

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


HPO:

31
agammaglobulinemia, x-linked:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


Summaries for Agammaglobulinemia, X-Linked

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. Children with XLA are usually healthy for the first 1 or 2 months of life because they are protected by antibodies acquired before birth from their mother. After this time, the maternal antibodies are cleared from the body, and the affected child begins to develop recurrent infections. In children with XLA, infections generally take longer to get better and then they come back again, even with antibiotic medications. The most common bacterial infections that occur in people with XLA are lung infections (pneumonia and bronchitis), ear infections (otitis), pink eye (conjunctivitis), and sinus infections (sinusitis). Infections that cause chronic diarrhea are also common. Recurrent infections can lead to organ damage. People with XLA can develop severe, life-threatening bacterial infections; however, affected individuals are not particularly vulnerable to infections caused by viruses. With treatment to replace antibodies, infections can usually be prevented, improving the quality of life for people with XLA.

MalaCards based summary : Agammaglobulinemia, X-Linked, also known as x-linked agammaglobulinemia, is related to agammaglobulinemia, non-bruton type and immunoglobulin g deficiency, 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 ERK Signaling. The drugs Hyaluronic acid and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include b cells, lung and skin, and related phenotypes are chronic otitis media and short stature

Disease Ontology : 12 An agammaglobulinemia 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.

NIH Rare Diseases : 52 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 .

OMIM : 56 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 : 73 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 : 74 X-linked agammaglobulinemia (XLA) is a rare genetic disorder discovered in 1952 that affects the body's... more...

GeneReviews: NBK1453

Related Diseases for Agammaglobulinemia, X-Linked

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

(show top 50) (show all 788)
# Related Disease Score Top Affiliating Genes
1 agammaglobulinemia, non-bruton type 33.3 IGHM CD79A BTK
2 immunoglobulin g deficiency 32.9 CD79A CD40LG
3 immunodeficiency with hyper-igm, type 3 31.9 ICOSLG CD40LG CD40
4 ecthyma 30.9 CD40LG BTK
5 otitis media 30.8 IL4 IL2 CD79A CD40LG
6 transient hypogammaglobulinemia of infancy 30.8 SH2D1A CD40LG BTK
7 immunoglobulin a deficiency 1 30.7 CD79A CD40LG BTK
8 meningoencephalitis 30.7 IL4 CD79A CD40LG
9 poliomyelitis 30.6 IL4 CD40LG BTK
10 conjunctivitis 30.5 IL4 IL2 BTK
11 congenital hypogammaglobulinemia 30.5 CD40LG BTK
12 kawasaki disease 30.4 IL4 IL2 CD40LG CD40
13 chickenpox 30.4 IL4 IL2 CD40LG
14 purpura 30.4 IL4 CD79A CD40LG
15 mantle cell lymphoma 30.3 CXCR4 CD40LG CD40 BTK
16 macroglobulinemia 30.3 CXCR4 CXCL12 CD40LG BTK
17 progressive multifocal leukoencephalopathy 30.3 IL2 ICOSLG CD40LG
18 dysgammaglobulinemia 30.2 SH2D1A ICOSLG CD79A CD40LG
19 exanthem 30.2 IL2 ICOSLG CD40LG
20 myocarditis 30.2 IL4 IL2 CD40LG CD40
21 cryoglobulinemia, familial mixed 30.1 IGHM CD40LG
22 meningitis 30.1 IL4 IL2 CXCL12 CD40LG BTK
23 lymphoproliferative syndrome 30.1 SH2D1A ITK IL2 ICOSLG
24 chediak-higashi syndrome 30.1 SH2D1A IL4 ICOSLG
25 lymphopenia 30.1 ITK IL4 IL2 ICOSLG BTK
26 candidiasis 30.1 SH2D1A IL4 IL2 CD40LG
27 wiskott-aldrich syndrome 30.0 WAS SRC PLEK CXCL12 BTK
28 plasma cell neoplasm 30.0 ICOSLG CD79A CD40LG
29 herpes zoster 30.0 IL2 ICOSLG CD40LG
30 urticaria 30.0 PLCG2 IL4 CD40LG
31 immunodeficiency with hyper-igm, type 2 30.0 IL4 ICOSLG CD40LG
32 cellulitis 29.9 IL4 IL2 ICOSLG CD40LG
33 immunoglobulin alpha deficiency 29.9 ICOSLG CD79A CD40LG BTK
34 anemia, autoimmune hemolytic 29.9 IL2 ICOSLG CD40LG
35 tetanus 29.9 SRC IL4 IL2 CD79A CD40LG
36 plasmacytoma 29.8 IL4 IL2 CXCL12 CD79A
37 neutropenia 29.8 WAS IL2 CXCR4 CD40LG
38 rubella 29.8 IL4 IL2 CD40LG
39 toxic shock syndrome 29.8 IL4 IL2 CD40LG CD40
40 agammaglobulinemia 29.8 TEC SRC PLEK ITK IGHM ICOSLG
41 toxoplasmosis 29.7 IL4 CD79A CD40LG CD40
42 chlamydia 29.7 IL4 CD79A CD40LG
43 autoimmune disease 29.7 IL4 IL2 ICOSLG CD79A CD40LG CD40
44 lymphoplasmacytic lymphoma 29.7 CXCR4 CXCL12 CD40LG CD40 BTK
45 lymphoma 29.7 SH2D1A ITK IL4 IL2 CXCR4 CD40LG
46 lymphoma, hodgkin, classic 29.7 SH2D1A IL2 ICOSLG CD40
47 tonsillitis 29.7 IL4 IL2 CD79A
48 diffuse large b-cell lymphoma 29.7 CXCR4 CD79A CD40 BTK
49 burkitt lymphoma 29.6 SH2D1A IL4 IGHM CD40LG CD40
50 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 29.6 IL4 IL2 ICOSLG

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

Symptoms & Phenotypes for Agammaglobulinemia, X-Linked

Human phenotypes related to Agammaglobulinemia, X-Linked:

58 31 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chronic otitis media 58 31 hallmark (90%) Very frequent (99-80%) HP:0000389
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
4 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
5 fever 58 31 hallmark (90%) Very frequent (99-80%) HP:0001945
6 immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002721
7 sinusitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000246
8 skin rash 58 31 hallmark (90%) Very frequent (99-80%) HP:0000988
9 skin ulcer 58 31 hallmark (90%) Very frequent (99-80%) HP:0200042
10 abnormality of the tonsils 58 31 hallmark (90%) Very frequent (99-80%) HP:0100765
11 glossoptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000162
12 conjunctivitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000509
13 chronic diarrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002028
14 agammaglobulinemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004432
15 recurrent pneumonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0006532
16 recurrent cutaneous abscess formation 58 31 hallmark (90%) Very frequent (99-80%) HP:0100838
17 arthritis 58 31 frequent (33%) Frequent (79-30%) HP:0001369
18 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
19 cellulitis 58 31 frequent (33%) Frequent (79-30%) HP:0100658
20 hypocalcemia 58 31 frequent (33%) Frequent (79-30%) HP:0002901
21 meningitis 58 31 frequent (33%) Frequent (79-30%) HP:0001287
22 neutropenia 58 31 frequent (33%) Frequent (79-30%) HP:0001875
23 sepsis 58 31 frequent (33%) Frequent (79-30%) HP:0100806
24 malabsorption 58 31 occasional (7.5%) Occasional (29-5%) HP:0002024
25 weight loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0001824
26 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
27 hepatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012115
28 hypopigmented skin patches 58 31 occasional (7.5%) Occasional (29-5%) HP:0001053
29 osteomyelitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002754
30 autoimmunity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002960
31 alopecia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001596
32 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001873
33 neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0002664
34 hearing impairment 31 HP:0000365
35 delayed speech and language development 31 HP:0000750
36 recurrent urinary tract infections 31 HP:0000010
37 abnormality of the lymphatic system 58 Very frequent (99-80%)
38 otitis media 31 HP:0000388
39 abnormal lung morphology 58 Frequent (79-30%)
40 encephalitis 31 HP:0002383
41 prostatitis 31 HP:0000024
42 pneumonia 31 HP:0002090
43 diarrhea 31 HP:0002014
44 septic arthritis 31 HP:0003095
45 lymph node hypoplasia 31 HP:0002732
46 epididymitis 31 HP:0000031
47 pyoderma 31 HP:0000999
48 cor pulmonale 31 HP:0001648
49 enteroviral hepatitis 31 HP:0001412
50 enteroviral dermatomyositis syndrome 31 HP:0003729

Symptoms via clinical synopsis from OMIM:

56
Respiratory Nasopharynx:
sinusitis
rudimentary adenoids
rudimentary tonsils

Head And Neck Eyes:
conjunctivitis

Genitourinary Internal Genitalia Male:
prostatitis
epididymitis

Abdomen Gastrointestinal:
diarrhea

Skin Nails Hair Skin:
pyoderma

Muscle Soft Tissue:
enteroviral dermatomyositis syndrome

Neoplasia:
increased incidence of rectosigmoid cancer

Head And Neck Ears:
otitis media
hearing loss

Neurologic Central Nervous System:
meningitis
encephalitis
delayed speech acquisition

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00154-A 9.4 BTK
2 Decreased viability GR00221-A-1 9.4 BTK
3 Decreased viability GR00221-A-2 9.4 BTK
4 Decreased viability GR00221-A-3 9.4 BTK
5 Decreased viability GR00221-A-4 9.4 BTK ITK
6 Decreased viability GR00249-S 9.4 ITK
7 Decreased viability GR00301-A 9.4 BTK ITK SRC TEC
8 Decreased viability GR00402-S-2 9.4 TEC

MGI Mouse Phenotypes related to Agammaglobulinemia, X-Linked:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.03 BTK CD40LG CD79A CXCL12 CXCR4 IL2
2 hematopoietic system MP:0005397 10.03 BTK CD40 CD40LG CD79A CXCL12 CXCR4
3 immune system MP:0005387 9.83 BMX BTK CD40 CD40LG CD79A CXCL12
4 neoplasm MP:0002006 9.17 BTK CD79A CXCR4 IL2 PLCG2 SRC

Drugs & Therapeutics for Agammaglobulinemia, X-Linked

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

(show top 50) (show all 84)
# 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
3 Vaccines Phase 4
4 Viscosupplements Phase 4
5
Tyrosine Approved, Investigational, Nutraceutical Phase 3 60-18-4 6057
6 Pharmaceutical Solutions Phase 3
7 Liver Extracts Phase 3
8 Anti-Infective Agents Phase 2, Phase 3
9 Antiviral Agents Phase 2, Phase 3
10 Anti-HIV Agents Phase 2, Phase 3
11 Anti-Retroviral Agents Phase 2, Phase 3
12 Plerixafor octahydrochloride Phase 2, Phase 3
13
Peginterferon alfa-2a Approved, Investigational Phase 2 198153-51-4 5360545
14
ofatumumab Approved Phase 2 679818-59-8 6918251
15
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
16
Busulfan Approved, Investigational Phase 2 55-98-1 2478
17
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
18
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
19
Melphalan Approved Phase 2 148-82-3 460612 4053
20
alemtuzumab Approved, Investigational Phase 2 216503-57-0
21
Pentostatin Approved, Investigational Phase 2 53910-25-1 439693 40926
22
Mycophenolic acid Approved Phase 2 24280-93-1 446541
23
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
24
Ustekinumab Approved, Investigational Phase 1, Phase 2 815610-63-0
25
Lenalidomide Approved Phase 2 191732-72-6 216326
26
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
27 Interferon alpha-2 Phase 2
28 interferons Phase 2
29 Interferon-alpha Phase 2
30 Antibodies, Monoclonal Phase 2
31 Protein Kinase Inhibitors Phase 2
32 Alkylating Agents Phase 2
33 Dermatologic Agents Phase 1, Phase 2
34 Interleukin-12 Phase 1, Phase 2
35 Immunologic Factors Phase 2
36 Immunosuppressive Agents Phase 2
37 Antilymphocyte Serum Phase 2
38 Antibodies Phase 2
39 Immunoglobulins Phase 2
40 Immunoglobulins, Intravenous Phase 2
41 Immunoglobulin G Phase 2
42 Rho(D) Immune Globulin Phase 2
43 gamma-Globulins Phase 2
44 Adjuvants, Immunologic Phase 2
45 Angiogenesis Inhibitors Phase 2
46 Heptavalent Pneumococcal Conjugate Vaccine Phase 2
47 Isoantibodies Phase 2
48 Thymoglobulin Phase 2
49
tannic acid Approved 1401-55-4
50
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337

Interventional clinical trials:

(show top 50) (show all 61)
# Name Status NCT ID Phase Drugs
1 A Multicenter Study on the Efficacy and Safety of Vivaglobin® in Previously Untreated Patients (PUPs) With Primary Immunodeficiency (PID) Completed NCT00520494 Phase 4 Vivaglobin
2 A Phase IV, Multicenter, Open-Label Study to Evaluate the Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases (PID) in Children and Adolescents Completed NCT01289847 Phase 4
3 Prospective, Multicentre, Not Controlled Clinical Study to Investigate Efficacy and Tolerability of the Hyaluronic Acid Filler IMD1 Basic After Single Bilateral Injection for Correction of Nasolabial Folds (NLF) Completed NCT00429520 Phase 4 Hyaluronic acid filler/IMD1 basic
4 Immune Response After Human Papillomavirus Vaccination in Patients With Autoimmune Disease Completed NCT00815282 Phase 4
5 Multicenter, Open-label, Historically Controlled, Phase III Study to Assess the Efficacy, Tolerability, Safety and Pharmacokinetics of Kedrion IVIG 10% in Adult and Pediatric Subjects With Primary Immunodeficiency (PID). Unknown status NCT01581593 Phase 3
6 A Multicenter Study on the Efficacy, Safety and Pharmacokinetics of IgPro10 in Patients With Primary Immunodeficiency (PID) Completed NCT00168025 Phase 3 Immunoglobulins Intravenous (Human)
7 An Open Study to Evaluate the Safety and Efficacy of IVIG-F10 in Patients With Primary Immunodeficiency Diseases (PID) Completed NCT00168012 Phase 3 Immunoglobulins Intravenous (Human)
8 A Clinical Study of Immune Globulin Intravenous (Human) Omr-IgG-am IGIV in Subjects With Primary Immune Deficiency Diseases Completed NCT00468273 Phase 3 Immune Globulin Intravenous (Human) Omr-IgG-am IGIV
9 Kinetics, Efficacy and Safety of IVIG-L (Human Normal Intravenous Immunoglobulin for Intravenous Use) in Hypogammaglobulinemia Patients Completed NCT00138697 Phase 2, Phase 3 IVIG-L
10 Does Replacement With CMVIG in Hypogammaglobulinemic Patients Decrease the Rate of Opportunistic Infections and Chronic Rejection? Completed NCT00137748 Phase 2, Phase 3 CMV-Ig
11 A Multicenter Extension Study on the Safety and Efficacy of IgPro10 in Patients With Primary Immunodeficiency (PID) Completed NCT00322556 Phase 3 Immunoglobulins Intravenous (Human)
12 A Phase III, Multicenter, Open-Label Study To Evaluate The Efficacy, Safety, and Pharmacokinetics of Gammaplex® in Primary Immunodeficiency Diseases Completed NCT00278954 Phase 3
13 A Phase III, Multicenter, Open-label, Randomized, Two-Period, Crossover Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency Diseases Completed NCT01963143 Phase 3
14 A Multicentre Study of the Efficacy, Tolerability, Safety, and Pharmacokinetics of Immune Globulin Subcutaneous (Human) IgPro20 in Subjects With Primary Immunodeficiency Completed NCT00542997 Phase 3
15 A Phase III, Multicenter, Open-Label Study to Evaluate the Pharmacokinetics and Safety of Subgam-VF in Primary Immunodeficiency Diseases Completed NCT01884311 Phase 3
16 IGIV-C 10% Rapid Infusion Trial in Primary Immune Deficient Patients Completed NCT00220766 Phase 3 Immune Globulin Intravenous [Human], 10% Caprylate/Chromatography Purified;Dextrose, 5% in Water
17 A Randomized, Double-Blind, Placebo-Controlled, Multicenter Trial to Evaluate the Efficacy and Safety of Oral BTK Inhibitor PRN1008 in Moderate to Severe Pemphigus Recruiting NCT03762265 Phase 3 PRN1008 Oral Tablet;Placebo Oral Tablet
18 A Phase III, Open-label, Prospective, Multicenter Study to Assess Efficacy, Safety and Pharmacokinetics of Kedrion Intravenous Immunoglobulin (IVIg) 10% in Primary Immunodeficiency Disease (PID) Patients Recruiting NCT03961009 Phase 3
19 Effects of Plasma Exchange With Human Serum Albumin 5% (PE-A 5%) on Short-term Survival in Subjects With "Acute-On-Chronic Liver Failure" (ACLF) at High Risk of Hospital Mortality Recruiting NCT03702920 Phase 3
20 A Phase III Double-Blind Randomized Crossover Study of Plerixafor Versus G-CSF in the Treatment of Patients With WHIM Syndrome. Active, not recruiting NCT02231879 Phase 2, Phase 3 Plerixafor;G-CSF
21 Clinical and Virological Efficacy of Pegylated Interferon Alpha in the Treatment of Rhinovirus Infection in Patients With Primary Hypogammaglobulinemia: Randomized Controlled Trial Unknown status NCT02661477 Phase 2 pegylated interferon alfa 2
22 IVIG for Acquired Immunodeficiency in Lung Transplant Patients Completed NCT00115778 Phase 2 IVIG
23 Prospective Open-Label Study of Pharmacokinetics, Efficacy and Safety of Immune Globulin Intravenous (Human), 10% TVR Solution in Patients With Hypo- or Agammaglobulinemia Completed NCT00161993 Phase 2 Immune Globulin Intravenous (Human), 10% TVR (Triple Virally Reduced) Solution;Gammagard S/D (Solvent/Detergent)
24 Open Label, Phase I/II Trial of Rituximab for Chronic, Severe Idiopathic Thrombocytopenic Purpura (ITP)in Children and Adolescents Completed NCT01713738 Phase 1, Phase 2 rituximab
25 Combination of Lenalidomide and Ofatumumab in Patients With Previously Treated Chronic Lymphocytic Leukemia and Small Lymphocytic Lymphoma (CLL/SLL) Completed NCT01002755 Phase 2 Lenalidomide
26 A Phase II Study of Dasatinib in Chronic Lymphocytic Leukemia in Patients Who Exhibit in Vitro Dasatinib Sensitivity Completed NCT01441882 Phase 2 Dasatinib
27 Study of Immune Responses and Safety of Recombinant CD40 Ligand in Patients With X-Linked Hyper IgM Syndrome Completed NCT00001145 Phase 2 Bacteriophage;rhuCD40L;KLH
28 Feasibility and Safety of Immunoglobulin (Ig) Treatment in COPD Outpatients With Frequent Exacerbations: Pilot Study 1 Completed NCT03018652 Phase 2 Intravenous immunoglobulin;Normal Saline
29 A Study of Hematopoietic Stem Cell Transplantation (HSCT) in Immune Function Disorders Using a Reduced Intensity Preparatory Regime Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
30 A Phase I Study of Mozobil (TM) in the Treatment of Patients With WHIMS Recruiting NCT00967785 Phase 1, Phase 2 Mozobil (TM)
31 Pilot Trial of Allogeneic Blood or Marrow Transplantation for Primary Immunodeficiencies Recruiting NCT02579967 Phase 2 Immunosuppression Only Conditioning - Closed with amendment L;Reduced Intensity Conditioning;Myeloablative Conditioning-Closed with amendment L;GVHD Prophylaxis
32 An Open-Label Phase I/II Pilot Study to Assess the Safety/Tolerability and Efficacy of Ustekinumab for Symptomatic Gastrointestinal Inflammation Associated With Common Variable Immunodeficiency Active, not recruiting NCT02199496 Phase 1, Phase 2
33 A Study of Immune-adjuvant Effect of Lenalidomide in Patients With Chronic Lymphocytic Leukemia and Hypogammaglobulinemia and Impaired Response to Vaccinations - RV-CL-CLL-PI-002544 Terminated NCT01924169 Phase 2 Lenalidomide
34 Multi-Drug Desensitization Protocol for Heart Transplant Candidates Terminated NCT01556347 Phase 2 Bortezomib, Thymoglobulin, Rituximab, Gamimune N, (IVIG), Plasmapheresis
35 A Randomized Trial Comparing Higher Doses of Rituximab (Rituxan) With Standard Doses of Rituxan in Combination With CVP (Cyclophosphamide, Vincristine,and Prednisone) in Subjects With Chronic ITP Who Have Failed/Relapsed After Rituxan Treatment Withdrawn NCT00161564 Phase 2 Rituximab
36 A Phase I Study of the CXCR-4 Inhibitor AMD3100 for the Treatment of Neutropenia Due to Mutations of CXCR-4, the Myelokathexis Syndrome Completed NCT01058993 Phase 1 AMD3100 or plerixafor
37 A Phase I Clinical Trial of Anti-CD19 Chimeric Antigen Receptor in PiggyBac Transposon-Engineered T Cells for the Treatment of Patients With Relapsed/Refractory/High-risk B-cell Lymphoma or B-cell Acute Lymphoblastic Leukemia Not yet recruiting NCT04289220 Phase 1
38 Mutation of the BTK Gene and Genotype-phenotype Correlation of Chinese Patients With X-Linked Agammaglobulinemia Unknown status NCT02234791
39 Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders Unknown status NCT00004341
40 Investigation of Molecular, Genetic and Cellular Mechanisms of Human Immune Disorders and Deficiencies Unknown status NCT01981785
41 Improving the Diagnosis of CVID by Analysis of Innate and Adaptive Signaling Pathways Unknown status NCT02680652
42 A Pilot Study to Assess Tolerability of Subcutaneous Immunoglobulin Treatment (Hizentra) in Patients Undergoing Allogeneic Hematopoietic Cell Transplantation Completed NCT03401268 subcutaneous immunoglobulin
43 Intravenous Immunoglobulin for Early Prevention of Cardiopulmonary Bypass Induced Hypogammaglobulinemia in Infants and Neonates Completed NCT02043379 IVIG
44 Personalized Immunotherapeutic for Antibiotic-resistant Infection Completed NCT02508584 Early Phase 1
45 Immunoglobulin Levels and Occurrence of Infections After Lung Transplantation and Impact of IgG Replacement - Observational Arm Completed NCT01361178 SQ IVIG
46 The Predictive Value of Clinical and Immunological Factors in the Development of Pneumonia After Traumatic Brain Injury Completed NCT00929448
47 Serum IgG Antibody to Streptococcus Pneumoniae, Haemophilus Influenzae Type b and Tetanus Toxoid in Patients With Primary Antibody Deficiencies Treated With Subcutaneous Immunoglobulin Infusions Completed NCT00661401
48 Genetic Studies of the X-Linked Lymphoproliferative Disease Completed NCT00359411
49 Hypogammaglobulinemia and Immunization Responses to Measles in Rituximab-treated Multiple Sclerosis Patients Recruiting NCT04283747
50 Studies of Immune Regulation in Patients With Common Variable Immunodeficiency and Related Humoral Immunodeficiency Syndromes Recruiting NCT00001244

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:

40
B Cells, Lung, Skin, Bone, Bone Marrow, Eye, T Cells

Publications for Agammaglobulinemia, X-Linked

Articles related to Agammaglobulinemia, X-Linked:

(show top 50) (show all 895)
# Title Authors PMID Year
1
Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course. 61 54 24 6
9445504 1998
2
Genetic analysis of patients with defects in early B-cell development. 61 24 6
15661032 2005
3
Clinical and molecular analysis of patients with defects in micro heavy chain gene. 56 24 61
12370281 2002
4
A mutation in Bruton's tyrosine kinase as a cause of selective anti-polysaccharide antibody deficiency. 56 6
11445810 2001
5
Maternal germinal mosaicism of X-linked agammaglobulinemia. 61 24 56
11241495 2001
6
X-linked agammaglobulinemia. A clinical and molecular analysis. 61 56 24
8982147 1996
7
The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. 6 56
8380905 1993
8
X-linked agammaglobulinemia: an analysis of 96 patients. 61 24 56
2581110 1985
9
Mutations of the Igbeta gene cause agammaglobulinemia in man. 56 24
17709424 2007
10
Identification of mutations in the Bruton's tyrosine kinase gene, including a novel genomic rearrangements resulting in large deletion, in Korean X-linked agammaglobulinemia patients. 6 61 54
12768435 2003
11
Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia. 61 54 6
12204007 2002
12
Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis. 61 54 6
11742281 2001
13
Characterization of mutations, including a novel regulatory defect in the first intron, in Bruton's tyrosine kinase gene from seven Korean X-linked agammaglobulinemia families. 61 54 6
11564824 2001
14
Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene. 61 6 54
10678660 2000
15
The spectrum of mutations in Btk that cause X-linked agammaglobulinemia. 6 61 54
7554467 1995
16
Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia. 6 54 61
7880320 1994
17
Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families. 6 54 61
7849721 1994
18
Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase. 61 6 54
7849697 1994
19
Brief report: a point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia. 54 61 6
8164701 1994
20
Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis. 54 61 6
8162056 1994
21
Molecular analysis of the pre-BCR complex in a large cohort of patients affected by autosomal-recessive agammaglobulinemia. 24 54 61
17410177 2007
22
[A retrospective study of one case of X-linked agammaglobulinemia]. 61 6
17327079 2006
23
X-linked agammaglobulinemia: report on a United States registry of 201 patients. 54 61 24
16862044 2006
24
Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study. 61 54 24
12217331 2002
25
Composition of precursor B-cell compartment in bone marrow from patients with X-linked agammaglobulinemia compared with healthy children. 6 61
11809909 2002
26
X-Linked Agammaglobulinemia 61 6
20301626 2001
27
Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia. 61 54 24
10220140 1999
28
Functional analysis of peripheral blood B cells in patients with X-linked agammaglobulinemia. 54 61 24
9780159 1998
29
Mutations in btk in patients with presumed X-linked agammaglobulinemia. 54 61 24
9545398 1998
30
Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia. 61 6
9143921 1997
31
Discordant phenotype in siblings with X-linked agammaglobulinemia. 6 61
8644706 1996
32
X-linked agammaglobulinemia presenting as transient hypogammaglobulinemia of infancy. 61 56
7722175 1995
33
Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease. 6 61
7809124 1994
34
Application of carrier testing to genetic counseling for X-linked agammaglobulinemia. 61 56
7506482 1994
35
Carrier detection and prenatal diagnosis of X-linked agammaglobulinemia. 61 56
1642281 1992
36
Evidence for failure of V(D)J recombination in bone marrow pre-B cells from X-linked agammaglobulinemia. 61 56
1602011 1992
37
Identification of a closely linked DNA marker, DXS178, to further refine the X-linked agammaglobulinemia locus. 56 61
2307467 1990
38
Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia. 61 56
2575070 1989
39
Evidence for male X chromosomal mosaicism in X-linked agammaglobulinemia. 56 61
2571563 1989
40
Correction of the molecular defect in B lymphocytes from X-linked agammaglobulinemia by cell fusion. 61 56
3139715 1988
41
Premature termination of variable gene rearrangement in B lymphocytes from X-linked agammaglobulinemia. 56 61
2838527 1988
42
Carrier detection in typical and atypical X-linked agammaglobulinemia. 61 6
2896233 1988
43
B lymphocytes from X-linked agammaglobulinemia. Delayed expression of light chain and demonstration of Lyonization in carriers. 56 61
3123521 1988
44
Chronic enteroviral meningoencephalitis in agammaglobulinemic patients. 61 56
3296100 1987
45
Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation. 61 56
2880293 1987
46
Genetic heterogeneity in X-linked agammaglobulinemia complicates carrier detection and prenatal diagnosis. 56 61
2881637 1987
47
Heterogeneity in the map distance between X-linked agammaglobulinemia and a map of nine RFLP loci. 56 61
2877937 1986
48
Mapping of a gene for X-linked agammaglobulinemia and evidence for genetic heterogeneity. 56 61
3502688 1986
49
Expression of the gene defect in X-linked agammaglobulinemia. 61 56
3488506 1986
50
Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism. 56 61
3003164 1986

Variations for Agammaglobulinemia, X-Linked

ClinVar genetic disease variations for Agammaglobulinemia, X-Linked:

6 (show top 50) (show all 97) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BTK NM_000061.2(BTK):c.726dup (p.Ile243fs)duplication Pathogenic 562232 rs1569292774 X:100615605-100615606 X:101360617-101360618
2 BTK NM_000061.2(BTK):c.1004T>A (p.Val335Asp)SNV Pathogenic 619022 rs1569292214 X:100613396-100613396 X:101358408-101358408
3 BTK NM_000061.3(BTK):c.655del (p.Val219fs)deletion Pathogenic 632731 rs1569292810 X:100615677-100615677 X:101360689-101360689
4 BTK NM_000061.3(BTK):c.176_178AGA[1] (p.Lys60del)short repeat Pathogenic 632728 X:100629583-100629585 X:101374595-101374597
5 BTK NM_000061.2(BTK):c.1763G>A (p.Trp588Ter)SNV Pathogenic 645226 X:100608327-100608327 X:101353339-101353339
6 BTK NM_000061.3(BTK):c.1784dup (p.Met596fs)duplication Pathogenic 804063 X:100608305-100608306 X:101353317-101353318
7 BTK NM_000061.3(BTK):c.721dup (p.Tyr241fs)duplication Pathogenic 804064 X:100615610-100615611 X:101360622-101360623
8 BTK NM_001287345.1(BTK):c.1038+44A>GSNV Pathogenic 11346 rs28935478 X:100613318-100613318 X:101358330-101358330
9 BTK NM_000061.2(BTK):c.83G>A (p.Arg28His)SNV Pathogenic 11348 rs128620185 X:100630190-100630190 X:101375202-101375202
10 BTK NM_000061.2(BTK):c.2T>C (p.Met1Thr)SNV Pathogenic 11349 rs128620186 X:100630271-100630271 X:101375283-101375283
11 BTK NM_000061.2(BTK):c.97A>C (p.Thr33Pro)SNV Pathogenic 11351 rs128620189 X:100630176-100630176 X:101375188-101375188
12 BTK NM_000061.2(BTK):c.228_231del (p.Glu76fs)deletion Pathogenic 11352 rs864321660 X:100629533-100629536 X:101374545-101374548
13 BTK NM_000061.2(BTK):c.141+3_141+4deldeletion Pathogenic 11353 rs864321661 X:100630128-100630129 X:101375140-101375141
14 BTK NM_000061.2(BTK):c.310-1G>CSNV Pathogenic 11354 rs864321662 X:100625068-100625068 X:101370080-101370080
15 BTK NM_000061.2(BTK):c.310-2A>GSNV Pathogenic 11355 rs864321663 X:100625069-100625069 X:101370081-101370081
16 BTK NM_000061.2(BTK):c.338T>A (p.Val113Asp)SNV Pathogenic 11356 rs128621190 X:100625039-100625039 X:101370051-101370051
17 BTK NM_000061.2(BTK):c.389del (p.Asn130fs)deletion Pathogenic 11357 rs864321664 X:100624988-100624988 X:101370000-101370000
18 BTK NM_000061.2(BTK):c.557dup (p.Pro187fs)duplication Pathogenic 11358 rs864321665 X:100617191-100617192 X:101362203-101362204
19 BTK NM_000061.2(BTK):c.588_589insCTACATAG (p.Ile197fs)insertion Pathogenic 11359 rs1569293253 X:100617160-100617161 X:101362172-101362173
20 BTK NM_000061.2(BTK):c.653del (p.Lys218fs)deletion Pathogenic 11360 rs1569292813 X:100615679-100615679 X:101360691-101360691
21 BTK NM_000061.2(BTK):c.718G>T (p.Glu240Ter)SNV Pathogenic 11361 rs128621191 X:100615614-100615614 X:101360626-101360626
22 BTK NM_000061.2(BTK):c.755G>A (p.Trp252Ter)SNV Pathogenic 11362 rs128621192 X:100615577-100615577 X:101360589-101360589
23 BTK NM_000061.2(BTK):c.763C>T (p.Arg255Ter)SNV Pathogenic 11363 rs128621193 X:100615569-100615569 X:101360581-101360581
24 BTK NM_000061.2(BTK):c.839+1G>ASNV Pathogenic 11364 rs1569292649 X:100615075-100615075 X:101360087-101360087
25 BTK BTK, 1-BP DEL/3-BP INS, CODON 261indel Pathogenic 11365
26 BTK NM_000061.2(BTK):c.919A>G (p.Arg307Gly)SNV Pathogenic 11367 rs128621195 X:100613660-100613660 X:101358672-101358672
27 BTK NM_000061.2(BTK):c.1001A>C (p.Tyr334Ser)SNV Pathogenic 11368 rs128621196 X:100613399-100613399 X:101358411-101358411
28 BTK BTK, 1-BP DEL, IVS11DS, +1Gdeletion Pathogenic 11369
29 BTK BTK, IVS12AS, A-T, -2SNV Pathogenic 11370
30 BTK BTK, 16-BP INS, NT1263insertion Pathogenic 11372
31 BTK NM_001287345.1(BTK):c.1038+1464T>CSNV Pathogenic 11373 rs128621198 X:100611898-100611898 X:101356910-101356910
32 BTK NM_001287345.1(BTK):c.1038+1516C>ASNV Pathogenic 11374 rs128621199 X:100611846-100611846 X:101356858-101356858
33 BTK NM_001287345.1(BTK):c.1039-1418C>ASNV Pathogenic 11375 rs41310709 X:100611100-100611100 X:101356112-101356112
34 BTK NM_000061.2(BTK):c.1558C>T (p.Arg520Ter)SNV Pathogenic 11377 rs128621201 X:100611048-100611048 X:101356060-101356060
35 BTK NM_000061.2(BTK):c.1559G>A (p.Arg520Gln)SNV Pathogenic 11378 rs128621202 X:100611047-100611047 X:101356059-101356059
36 BTK BTK, 1-BP DEL, 1720Adeletion Pathogenic 11379
37 BTK BTK, 4-BP DEL, CODON 527, GTTTdeletion Pathogenic 11380
38 BTK NM_000061.2(BTK):c.1631+1G>TSNV Pathogenic 11382 rs1569291215 X:100609617-100609617 X:101354629-101354629
39 BTK NM_000061.2(BTK):c.1684C>T (p.Arg562Trp)SNV Pathogenic 11383 rs128621204 X:100608924-100608924 X:101353936-101353936
40 BTK NM_000061.2(BTK):c.1741T>C (p.Trp581Arg)SNV Pathogenic 11384 rs128621205 X:100608867-100608867 X:101353879-101353879
41 BTK NM_000061.2(BTK):c.1766A>G (p.Glu589Gly)SNV Pathogenic 11385 rs128621206 X:100608324-100608324 X:101353336-101353336
42 BTK NM_000061.2(BTK):c.1820C>A (p.Ala607Asp)SNV Pathogenic 11387 rs128621208 X:100608270-100608270 X:101353282-101353282
43 BTK NM_000061.2(BTK):c.1838G>A (p.Gly613Asp)SNV Pathogenic 11388 rs128621209 X:100608252-100608252 X:101353264-101353264
44 BTK NM_000061.2(BTK):c.1889T>A (p.Met630Lys)SNV Pathogenic 11389 rs128621210 X:100608201-100608201 X:101353213-101353213
45 BTK NM_000061.2(BTK):c.1906G>T (p.Glu636Ter)SNV Pathogenic 11390 rs128622211 X:100608184-100608184 X:101353196-101353196
46 BTK BTK, 6-BP INS, NT2041insertion Pathogenic 11391
47 BTK NM_000061.2(BTK):c.1955T>C (p.Leu652Pro)SNV Pathogenic 11392 rs128622212 X:100604898-100604898 X:101349910-101349910
48 BTK BTK, 26-BP INS, NT2019insertion Pathogenic 11393
49 BTK NM_000061.2(BTK):c.1685G>C (p.Arg562Pro)SNV Pathogenic 11394 rs104894770 X:100608923-100608923 X:101353935-101353935
50 BTK NM_000061.2(BTK):c.642_643del (p.Ser214fs)deletion Pathogenic 11395 rs1569292818 X:100615689-100615690 X:101360701-101360702

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

73 (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 rs155597733
50 BTK p.Tyr598Cys VAR_006270

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 38)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.98 WAS TEC SRC SH2D1A PLCG2 ITK
2
Show member pathways
13.79 SRC PLCG2 IL4 IL2 CXCR4 CXCL12
3
Show member pathways
13.41 WAS SRC SH2D1A PLCG2 ITK ICOSLG
4
Show member pathways
13.36 WAS TEC SRC PLCG2 ITK CXCR4
5
Show member pathways
13.28 SRC PLCG2 ITK IL2 CXCL12 CD79A
6
Show member pathways
13.18 TEC SRC PLCG2 IL4 IL2 CD79A
7
Show member pathways
13.13 WAS SRC PLCG2 IL4 IL2 CXCR4
8
Show member pathways
13.12 WAS TEC SRC PLCG2 ITK IL4
9
Show member pathways
13.04 SRC PLCG2 ITK IL2 CXCL12 CD79A
10
Show member pathways
12.86 WAS SRC PLCG2 ITK CXCR4 CXCL12
11
Show member pathways
12.83 IL4 IL2 ICOSLG CXCR4 CXCL12 CD40LG
12 12.79 PLCG2 IL4 IL2 CXCR4 CXCL12
13
Show member pathways
12.74 SRC PLCG2 IGHM CXCR4 CXCL12 CD79A
14
Show member pathways
12.62 SRC PLCG2 ITK CXCR4 CXCL12
15
Show member pathways
12.58 WAS TEC ITK IL4 IL2 CD40LG
16
Show member pathways
12.49 WAS SH2D1A PLCG2 IL4 IL2
17
Show member pathways
12.48 SRC PLCG2 ITK IL4 IGHM CD79A
18
Show member pathways
12.42 SRC IL4 IL2 CXCR4 CXCL12
19
Show member pathways
12.4 WAS PLCG2 CD40 BTK
20
Show member pathways
12.39 TEC SH3BP5 PLCG2 CD79A BTK
21
Show member pathways
12.25 WAS SRC PLCG2 BTK
22
Show member pathways
12.24 WAS TEC PLCG2 ITK IL2 ICOSLG
23 12.21 SRC PLCG2 CXCR4 CXCL12
24
Show member pathways
12.21 PLCG2 ITK IL4 IL2 IGHM ICOSLG
25
Show member pathways
12.18 SRC PLCG2 IL2 BTK
26 11.97 TEC SRC SH2D1A ITK BTK BMX
27
Show member pathways
11.92 TEC PLCG2 ITK CD79A BTK
28 11.92 TEC SH2D1A PLCG2 ITK IL4 IL2
29 11.89 PLCG2 CXCL12 CD40LG CD40 BTK
30
Show member pathways
11.88 TEC SRC PLCG2 BTK
31 11.72 SRC CXCR4 CXCL12
32
Show member pathways
11.72 IL4 IL2 CD40LG
33 11.48 TEC SRC BTK
34 11.44 SRC PLCG2 ITK BTK
35 11.39 CD79A CD40LG CD40 BTK
36 11.28 IL4 IL2 CD40LG CD40
37 11.26 IL4 CD40LG CD40
38 10.98 IL4 IL2 CXCL12 CD40LG BTK

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 plasma membrane GO:0005886 9.8 WAS TEC SRC PLEK PLCG2 IGHM
2 ruffle membrane GO:0032587 9.33 SRC PLEK BMX
3 external side of plasma membrane GO:0009897 9.17 IGHM ICOSLG CXCR4 CXCL12 CD79A CD40LG

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.21 SRC SH3BP5 PLCG2 ITK IL4 ICOSLG
2 immune response GO:0006955 10.03 WAS IL4 IL2 CXCR4 CXCL12 CD40LG
3 immune system process GO:0002376 9.96 TEC SRC SH2D1A ITK IL2 IGHM
4 intracellular signal transduction GO:0035556 9.92 TEC SRC SH3BP5 PLEK PLCG2 ITK
5 Fc-epsilon receptor signaling pathway GO:0038095 9.9 TEC PLCG2 ITK BTK
6 regulation of immune response GO:0050776 9.89 SH2D1A IL4 ICOSLG CD40LG CD40
7 peptidyl-tyrosine phosphorylation GO:0018108 9.88 TEC SRC BTK BMX
8 platelet activation GO:0030168 9.85 SRC PLCG2 CD40LG CD40
9 T cell receptor signaling pathway GO:0050852 9.85 WAS TEC PLCG2 ITK ICOSLG
10 integrin-mediated signaling pathway GO:0007229 9.83 TEC SRC PLEK CD40LG
11 calcium-mediated signaling GO:0019722 9.82 PLCG2 CXCR4 BTK
12 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.82 IL4 IL2 CD40
13 positive regulation of T cell proliferation GO:0042102 9.8 IL4 IL2 CD40LG
14 T cell costimulation GO:0031295 9.78 SRC ICOSLG CD40LG
15 B cell differentiation GO:0030183 9.78 PLCG2 IL4 CD79A CD40LG
16 positive regulation of B cell proliferation GO:0030890 9.76 IL4 IL2 CD40
17 B cell proliferation GO:0042100 9.74 CD79A CD40LG CD40
18 T cell activation GO:0042110 9.71 WAS ITK IL4 ICOSLG
19 peptidyl-tyrosine autophosphorylation GO:0038083 9.67 TEC SRC ITK BMX
20 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.65 CXCR4 CXCL12
21 negative regulation of T-helper 17 cell differentiation GO:2000320 9.64 IL4 IL2
22 regulation of actin polymerization or depolymerization GO:0008064 9.63 WAS CXCL12
23 positive regulation of integrin activation GO:0033625 9.62 SRC PLEK
24 CD40 signaling pathway GO:0023035 9.62 CD40LG CD40
25 telencephalon cell migration GO:0022029 9.61 CXCR4 CXCL12
26 positive regulation of isotype switching to IgG isotypes GO:0048304 9.61 IL4 IL2 CD40
27 adaptive immune response GO:0002250 9.61 TEC SH2D1A ITK IL2 IGHM ICOSLG
28 regulation of immunoglobulin secretion GO:0051023 9.59 CD40LG CD40
29 B cell activation GO:0042113 9.55 IL4 ICOSLG CD79A CD40 BTK
30 response to ultrasound GO:1990478 9.54 CXCR4 CXCL12
31 B cell receptor signaling pathway GO:0050853 9.17 TEC PLCG2 ITK IGHM CD79A BTK

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 10.13 WAS TEC SRC SH3BP5 SH2D1A PLEK
2 protein kinase activity GO:0004672 9.72 TEC SRC ITK BTK BMX
3 cytokine activity GO:0005125 9.56 IL4 IL2 CXCL12 CD40LG
4 protein tyrosine kinase activity GO:0004713 9.35 TEC SRC ITK BTK BMX
5 non-membrane spanning protein tyrosine kinase activity GO:0004715 9.02 TEC SRC ITK BTK BMX

Sources for Agammaglobulinemia, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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