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 57 40
X-Linked Agammaglobulinemia 12 75 24 53 25 59 74 29 55 6 72
Xla 57 24 53 25 74
Bruton Type Agammaglobulinemia 75 53 59 44
Bruton-Type Agammaglobulinemia 57 12 15
Agammaglobulinemia, X-Linked 1 57 29 13
Bruton's Agammaglobulinemia 24 53 25
Hypogammaglobulinemia 25 55 72
Agammaglobulinemia 25 72
Btk-Deficiency 53 59
Agmx1 57 74
Imd1 57 74
Bruton Agammaglobulinemia Tyrosine Kinase Deficiency 12
Agammaglobulinemia, X-Linked, Type 1; Agmx1 57
Agammaglobulinemia, Bruton Tyrosine Kinase 53
Bruton's Sex-Linked Agammaglobulinemia 12
Agammaglobulinemia, X-Linked, Type 1 57
X-Linked Agammaglobulinemia Type 1 74
Bruton's Type Agammaglobulinemia 12
Congenital Agammaglobulinemia 25
Bruton's Agammaglobulinaemia 12
Immunodeficiency 1; Imd1 57
Agammaglobulinemia, Btk 53
Immunodeficiency Type 1 74
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


External Ids:

Disease Ontology 12 DOID:14179
MeSH 44 C537409
NCIt 50 C3822
SNOMED-CT 68 65880007
MESH via Orphanet 45 C537409
ICD10 via Orphanet 34 D80.0
UMLS via Orphanet 73 C0221026
Orphanet 59 ORPHA47
UMLS 72 C0001768 C0086438 C0221026

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 1, autosomal recessive 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 Akt Signaling. The drugs Hyaluronic acid and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include b cells, lung and bone, and related phenotypes are failure to thrive and chronic otitis media

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 : 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.

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). (300755)

UniProtKB/Swiss-Prot : 74 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 : 75 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 700)
# Related Disease Score Top Affiliating Genes
1 agammaglobulinemia 1, autosomal recessive 33.0 IGHM BTK
2 agammaglobulinemia, non-bruton type 32.8 IGHM CD79A BTK
3 immunoglobulin g deficiency 32.7 CD79A CD40LG
4 lymphoproliferative syndrome 1 32.6 SH2D1A ITK
5 immunodeficiency with hyper-igm, type 3 32.2 CD40LG CD40
6 poliomyelitis 30.6 IL4 BTK
7 lymphocytic leukemia 30.4 PLCG2 IL4 BTK
8 dysgammaglobulinemia 30.4 SH2D1A CD79A
9 immunoglobulin a deficiency 1 30.2 CD79A CD40LG BTK
10 cd40 ligand deficiency 30.2 CD40LG CD40
11 autoimmune disease 30.2 IL4 CD40LG CD40
12 cryoglobulinemia, familial mixed 30.1 IGHM CD40LG
13 cryptosporidiosis 30.0 CD79A CD40LG
14 immunoglobulin alpha deficiency 30.0 CD79A CD40LG
15 b cell deficiency 29.9 SH2D1A CD40LG CD40 BTK
16 agammaglobulinemia 29.9 SRC ITK IGHM CD79A BTK
17 tetanus 29.8 IL4 CD79A CD40LG
18 transient hypogammaglobulinemia of infancy 29.8 IL4 CD40LG CD40 BTK
19 small intestine lymphoma 29.8 CD79A CD40
20 lymphosarcoma 29.7 SH2D1A CD79A
21 congenital hypogammaglobulinemia 29.6 IL4 CD79A BTK
22 leukemia, chronic lymphocytic 29.5 IL4 IGHM CD40LG CD40
23 immunodeficiency with hyper-igm, type 2 29.4 CD40LG CD40
24 wiskott-aldrich syndrome 29.4 WAS SRC BTK
25 burkitt lymphoma 29.2 SH2D1A IL4 CD40LG CD40
26 immunodeficiency with hyper-igm, type 1 29.1 IL4 CD79A CD40LG CD40 BTK
27 proliferative glomerulonephritis 29.0 IL4 CD79A
28 common variable immunodeficiency 28.9 SH2D1A IL4 CD79A CD40LG CD40 BTK
29 toxoplasmosis 28.8 IL4 CD79A CD40LG CD40
30 immune deficiency disease 28.5 SH2D1A IL4 CD79A CD40LG CD40 BTK
31 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 28.0 WAS SH2D1A IL4 CD40LG BTK
32 agammaglobulinemia 5, autosomal dominant 12.7
33 agammaglobulinemia 6, autosomal recessive 12.6
34 agammaglobulinemia 2, autosomal recessive 12.6
35 agammaglobulinemia 3, autosomal recessive 12.6
36 agammaglobulinemia 7, autosomal recessive 12.6
37 agammaglobulinemia 8, autosomal dominant 12.6
38 agammaglobulinemia 4, autosomal recessive 12.5
39 pulmonary alveolar proteinosis with hypogammaglobulinemia 12.5
40 agammaglobulinemia, microcephaly, and severe dermatitis 12.4
41 ectodermal dysplasia and immunodeficiency 1 12.3
42 whim syndrome 12.3
43 retinal telangiectasia and hypogammaglobulinemia 12.3
44 microcephaly with chemotactic defect and transient hypogammaglobulinemia 12.2
45 osteopetrosis, autosomal recessive 7 12.2
46 x-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome 12.2
47 syndromic agammaglobulinemia 12.1
48 immunodeficiency 61 11.9
49 isolated growth hormone deficiency, type iii, with agammaglobulinemia 11.8
50 immunodeficiency, common variable, 2 11.8

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:

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

Symptoms via clinical synopsis from OMIM:

57
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:

26
# 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.96 BTK CD40 CD40LG CD79A IL4 ITK
2 cellular MP:0005384 9.92 BTK CD40LG CD79A IL4 ITK PLCG2
3 immune system MP:0005387 9.85 BTK CD40 CD40LG CD79A IL4 ITK
4 neoplasm MP:0002006 9.35 BTK CD79A PLCG2 SRC WAS
5 renal/urinary system MP:0005367 9.1 CD40 CD40LG CD79A IL4 PLCG2 WAS

Drugs & Therapeutics for Agammaglobulinemia, X-Linked

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

(show top 50) (show all 99)
# 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
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
6
Tyrosine Approved, Investigational, Nutraceutical Phase 3 60-18-4 6057
7 Immunoglobulin G Phase 3
8 Pharmaceutical Solutions Phase 3
9 Liver Extracts Phase 3
10 Anti-Infective Agents Phase 2, Phase 3
11 Antiviral Agents Phase 2, Phase 3
12 Adjuvants, Immunologic Phase 2, Phase 3
13 Anti-HIV Agents Phase 2, Phase 3
14 Anti-Retroviral Agents Phase 2, Phase 3
15 Plerixafor octahydrochloride Phase 2, Phase 3
16
Peginterferon alfa-2a Approved, Investigational Phase 2 198153-51-4 5360545
17
ofatumumab Approved Phase 2 679818-59-8 6918251
18
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
19
Busulfan Approved, Investigational Phase 2 55-98-1 2478
20
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
21
alemtuzumab Approved, Investigational Phase 2 216503-57-0
22
Melphalan Approved Phase 2 148-82-3 460612 4053
23
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
24
Mycophenolic acid Approved Phase 2 24280-93-1 446541
25
Pentostatin Approved, Investigational Phase 2 53910-25-1 40926 439693
26
Sirolimus Approved, Investigational Phase 2 53123-88-9 6436030 5284616 46835353
27
Ustekinumab Approved, Investigational Phase 1, Phase 2 815610-63-0
28
Adenosine Approved, Investigational Phase 1, Phase 2 58-61-7 60961
29
Lenalidomide Approved Phase 2 191732-72-6 216326
30
Bortezomib Approved, Investigational Phase 2 179324-69-7 93860 387447
31 Interferon alpha-2 Phase 2
32 Interferon-alpha Phase 2
33 interferons Phase 2
34 Antibodies, Monoclonal Phase 2
35 Protein Kinase Inhibitors Phase 2
36 Alkylating Agents Phase 2
37 Antimetabolites Phase 2
38 Antineoplastic Agents, Alkylating Phase 2
39 Antimetabolites, Antineoplastic Phase 2
40 Dermatologic Agents Phase 1, Phase 2
41 Interleukin-12 Phase 1, Phase 2
42 Immunosuppressive Agents Phase 2
43 Antilymphocyte Serum Phase 2
44 Immunologic Factors Phase 2
45 Antibodies Phase 2
46 Immunoglobulins Phase 2
47 gamma-Globulins Phase 2
48 Immunoglobulins, Intravenous Phase 2
49 Rho(D) Immune Globulin Phase 2
50 Angiogenesis Inhibitors Phase 2

Interventional clinical trials:

(show top 50) (show all 64)
# Name Status NCT ID Phase Drugs
1 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
2 A Multicenter Study on the Efficacy and Safety of Vivaglobin® in Previously Untreated Patients (PUPs) With Primary Immunodeficiency (PID) Completed NCT00520494 Phase 4 Vivaglobin
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 A Study of EZN-2279 (Polyethylene Glycol Recombinant Adenosine Deaminase [PEG-rADA]) Administered as a Weekly Intramuscular Injection in Patients With Adenosine Deaminase (ADA)-Deficient Combined Immunodeficiency Active, not recruiting NCT01420627 Phase 3
22 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
23 IVIG for Acquired Immunodeficiency in Lung Transplant Patients Completed NCT00115778 Phase 2 IVIG
24 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)
25 Phase I Gene Therapy Protocol for Adenosine Deaminase Deficiency Completed NCT01279720 Phase 1, Phase 2
26 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
27 Combination of Lenalidomide and Ofatumumab in Patients With Previously Treated Chronic Lymphocytic Leukemia and Small Lymphocytic Lymphoma (CLL/SLL) Completed NCT01002755 Phase 2 Lenalidomide
28 A Phase II Study of Dasatinib in Chronic Lymphocytic Leukemia in Patients Who Exhibit in Vitro Dasatinib Sensitivity Completed NCT01441882 Phase 2 Dasatinib
29 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
30 A Phase I Study of Mozobil (TM) in the Treatment of Patients With WHIMS Recruiting NCT00967785 Phase 1, Phase 2 Mozobil (TM)
31 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
32 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
33 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
34 Phase I/II, Non-controlled, Open-label, Non-randomised, Single-centre Trial to Assess the Safety and Efficacy of EF1αS-ADA Lentiviral Vector Mediated Gene Modification of Autologous CD34+ Cells From ADA-deficient Individuals Active, not recruiting NCT01380990 Phase 1, Phase 2
35 Feasibility and Safety of Immunoglobulin (Ig) Treatment in COPD Outpatients With Frequent Exacerbations: Pilot Study 1 Active, not recruiting NCT03018652 Phase 2 Intravenous immunoglobulin;Normal Saline
36 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
37 Multi-Drug Desensitization Protocol for Heart Transplant Candidates Terminated NCT01556347 Phase 2 Bortezomib, Thymoglobulin, Rituximab, Gamimune N, (IVIG), Plasmapheresis
38 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
39 Induction of Mixed Hematopoietic Chimerism in Patients With Severe Combined Immunodeficiency Disorders Using Allogeneic Bone Marrow and Post-Transplant Immunosuppression With Cyclosporine and Mycophenolate Mofetil Completed NCT00008450 Phase 1 Cyclosporine;Mycophenolate Mofetil
40 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
41 Treatment of SCID Due to ADA Deficiency With Autologous Transplantation of Cord Blood or Hematopoietic CD 34+ Cells After Addition of a Normal Human ADA cDNA by the EFS-ADA Lentiviral Vector Completed NCT02022696 Phase 1
42 Mutation of the BTK Gene and Genotype-phenotype Correlation of Chinese Patients With X-Linked Agammaglobulinemia Unknown status NCT02234791
43 Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders Unknown status NCT00004341
44 Personalized Immunotherapeutic for Antibiotic-resistant Infection Unknown status NCT02508584 Early Phase 1
45 Investigation of Molecular, Genetic and Cellular Mechanisms of Human Immune Disorders and Deficiencies Unknown status NCT01981785
46 Improving the Diagnosis of CVID by Analysis of Innate and Adaptive Signaling Pathways Unknown status NCT02680652
47 Intravenous Immunoglobulin for Early Prevention of Cardiopulmonary Bypass Induced Hypogammaglobulinemia in Infants and Neonates Completed NCT02043379 IVIG
48 A Pilot Study to Assess Tolerability of Subcutaneous Immunoglobulin Treatment (Hizentra) in Patients Undergoing Allogeneic Hematopoietic Cell Transplantation Completed NCT03401268 subcutaneous immunoglobulin
49 Immunoglobulin Levels and Occurrence of Infections After Lung Transplantation and Impact of IgG Replacement - Observational Arm Completed NCT01361178 SQ IVIG
50 The Predictive Value of Clinical and Immunological Factors in the Development of Pneumonia After Traumatic Brain Injury Completed NCT00929448

Search NIH Clinical Center for Agammaglobulinemia, X-Linked

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Immune Globulin Human

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

Publications for Agammaglobulinemia, X-Linked

Articles related to Agammaglobulinemia, X-Linked:

(show top 50) (show all 868)
# 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. 9 38 4 71
9445504 1998
2
Genetic analysis of patients with defects in early B-cell development. 38 4 71
15661032 2005
3
Clinical and molecular analysis of patients with defects in micro heavy chain gene. 38 4 8
12370281 2002
4
A mutation in Bruton's tyrosine kinase as a cause of selective anti-polysaccharide antibody deficiency. 8 71
11445810 2001
5
Maternal germinal mosaicism of X-linked agammaglobulinemia. 38 4 8
11241495 2001
6
X-linked agammaglobulinemia. A clinical and molecular analysis. 38 4 8
8982147 1996
7
The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. 8 71
8380905 1993
8
X-linked agammaglobulinemia: an analysis of 96 patients. 38 4 8
2581110 1985
9
Mutations of the Igbeta gene cause agammaglobulinemia in man. 4 8
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. 9 38 71
12768435 2003
11
Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia. 9 38 71
12204007 2002
12
Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis. 9 38 71
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. 9 38 71
11564824 2001
14
Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene. 9 38 71
10678660 2000
15
The spectrum of mutations in Btk that cause X-linked agammaglobulinemia. 9 38 71
7554467 1995
16
Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families. 9 38 71
7849721 1994
17
Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia. 9 38 71
7880320 1994
18
Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase. 9 38 71
7849697 1994
19
Brief report: a point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia. 9 38 71
8164701 1994
20
Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis. 9 38 71
8162056 1994
21
Molecular analysis of the pre-BCR complex in a large cohort of patients affected by autosomal-recessive agammaglobulinemia. 9 38 4
17410177 2007
22
[A retrospective study of one case of X-linked agammaglobulinemia]. 38 71
17327079 2006
23
X-linked agammaglobulinemia: report on a United States registry of 201 patients. 9 38 4
16862044 2006
24
Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study. 9 38 4
12217331 2002
25
Composition of precursor B-cell compartment in bone marrow from patients with X-linked agammaglobulinemia compared with healthy children. 38 71
11809909 2002
26
X-Linked Agammaglobulinemia 38 71
20301626 2001
27
Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia. 9 38 4
10220140 1999
28
Functional analysis of peripheral blood B cells in patients with X-linked agammaglobulinemia. 9 38 4
9780159 1998
29
Mutations in btk in patients with presumed X-linked agammaglobulinemia. 9 38 4
9545398 1998
30
Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia. 38 71
9143921 1997
31
Discordant phenotype in siblings with X-linked agammaglobulinemia. 38 71
8644706 1996
32
X-linked agammaglobulinemia presenting as transient hypogammaglobulinemia of infancy. 38 8
7722175 1995
33
Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease. 38 71
7809124 1994
34
Application of carrier testing to genetic counseling for X-linked agammaglobulinemia. 38 8
7506482 1994
35
Carrier detection and prenatal diagnosis of X-linked agammaglobulinemia. 38 8
1642281 1992
36
Evidence for failure of V(D)J recombination in bone marrow pre-B cells from X-linked agammaglobulinemia. 38 8
1602011 1992
37
Identification of a closely linked DNA marker, DXS178, to further refine the X-linked agammaglobulinemia locus. 38 8
2307467 1990
38
Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia. 38 8
2575070 1989
39
Evidence for male X chromosomal mosaicism in X-linked agammaglobulinemia. 38 8
2571563 1989
40
Correction of the molecular defect in B lymphocytes from X-linked agammaglobulinemia by cell fusion. 38 8
3139715 1988
41
Premature termination of variable gene rearrangement in B lymphocytes from X-linked agammaglobulinemia. 38 8
2838527 1988
42
Carrier detection in typical and atypical X-linked agammaglobulinemia. 38 71
2896233 1988
43
B lymphocytes from X-linked agammaglobulinemia. Delayed expression of light chain and demonstration of Lyonization in carriers. 38 8
3123521 1988
44
Chronic enteroviral meningoencephalitis in agammaglobulinemic patients. 38 8
3296100 1987
45
Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation. 38 8
2880293 1987
46
Genetic heterogeneity in X-linked agammaglobulinemia complicates carrier detection and prenatal diagnosis. 38 8
2881637 1987
47
Heterogeneity in the map distance between X-linked agammaglobulinemia and a map of nine RFLP loci. 38 8
2877937 1986
48
Mapping of a gene for X-linked agammaglobulinemia and evidence for genetic heterogeneity. 38 8
3502688 1986
49
Expression of the gene defect in X-linked agammaglobulinemia. 38 8
3488506 1986
50
Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism. 38 8
3003164 1986

Variations for Agammaglobulinemia, X-Linked

ClinVar genetic disease variations for Agammaglobulinemia, X-Linked:

6 (show top 50) (show all 88)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 BTK NM_000061.2(BTK): c.1574G> A (p.Arg525Gln) single nucleotide variant Pathogenic rs128620183 X:100609675-100609675 X:101354687-101354687
2 BTK NM_000061.2(BTK): c.1288A> G (p.Lys430Glu) single nucleotide variant Pathogenic rs128620184 X:100611833-100611833 X:101356845-101356845
3 BTK NM_000061.2(BTK): c.37C> T (p.Arg13Ter) single nucleotide variant Pathogenic rs128620187 X:100630236-100630236 X:101375248-101375248
4 BTK NM_000061.2(BTK): c.43C> T (p.Gln15Ter) single nucleotide variant Pathogenic rs128620188 X:100630230-100630230 X:101375242-101375242
5 BTK NM_000061.2(BTK): c.1082A> G (p.Tyr361Cys) single nucleotide variant Pathogenic rs28935478 X:100613318-100613318 X:101358330-101358330
6 BTK NM_000061.2(BTK): c.83G> A (p.Arg28His) single nucleotide variant Pathogenic rs128620185 X:100630190-100630190 X:101375202-101375202
7 BTK NM_000061.2(BTK): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs128620186 X:100630271-100630271 X:101375283-101375283
8 BTK NM_000061.2(BTK): c.97A> C (p.Thr33Pro) single nucleotide variant Pathogenic rs128620189 X:100630176-100630176 X:101375188-101375188
9 BTK NM_000061.2(BTK): c.228_231del (p.Glu76fs) deletion Pathogenic rs864321660 X:100629533-100629536 X:101374545-101374548
10 BTK NM_000061.2(BTK): c.141+3_141+4del deletion Pathogenic rs864321661 X:100630128-100630129 X:101375140-101375141
11 BTK NM_000061.2(BTK): c.310-1G> C single nucleotide variant Pathogenic rs864321662 X:100625068-100625068 X:101370080-101370080
12 BTK NM_000061.2(BTK): c.310-2A> G single nucleotide variant Pathogenic rs864321663 X:100625069-100625069 X:101370081-101370081
13 BTK NM_000061.2(BTK): c.338T> A (p.Val113Asp) single nucleotide variant Pathogenic rs128621190 X:100625039-100625039 X:101370051-101370051
14 BTK NM_000061.2(BTK): c.389del (p.Asn130fs) deletion Pathogenic rs864321664 X:100624988-100624988 X:101370000-101370000
15 BTK NM_000061.2(BTK): c.557dup (p.Pro187fs) duplication Pathogenic rs864321665 X:100617192-100617192 X:101362204-101362204
16 BTK NM_000061.2(BTK): c.588_589insCTACATAG (p.Ile197fs) insertion Pathogenic X:100617160-100617161 X:101362172-101362173
17 BTK NM_000061.2(BTK): c.653del (p.Lys218fs) deletion Pathogenic X:100615679-100615679 X:101360691-101360691
18 BTK NM_000061.2(BTK): c.718G> T (p.Glu240Ter) single nucleotide variant Pathogenic rs128621191 X:100615614-100615614 X:101360626-101360626
19 BTK NM_000061.2(BTK): c.755G> A (p.Trp252Ter) single nucleotide variant Pathogenic rs128621192 X:100615577-100615577 X:101360589-101360589
20 BTK NM_000061.2(BTK): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs128621193 X:100615569-100615569 X:101360581-101360581
21 BTK NM_000061.2(BTK): c.839+1G> A single nucleotide variant Pathogenic X:100615075-100615075 X:101360087-101360087
22 BTK BTK, 1-BP DEL/3-BP INS, CODON 261 indel Pathogenic
23 BTK NM_000061.2(BTK): c.919A> G (p.Arg307Gly) single nucleotide variant Pathogenic rs128621195 X:100613660-100613660 X:101358672-101358672
24 BTK NM_000061.2(BTK): c.1001A> C (p.Tyr334Ser) single nucleotide variant Pathogenic rs128621196 X:100613399-100613399 X:101358411-101358411
25 BTK BTK, 1-BP DEL, IVS11DS, +1G deletion Pathogenic
26 BTK BTK, IVS12AS, A-T, -2 single nucleotide variant Pathogenic
27 BTK BTK, 16-BP INS, NT1263 insertion Pathogenic
28 BTK NM_000061.2(BTK): c.1223T> C (p.Leu408Pro) single nucleotide variant Pathogenic rs128621198 X:100611898-100611898 X:101356910-101356910
29 BTK NM_000061.2(BTK): c.1275C> A (p.Tyr425Ter) single nucleotide variant Pathogenic rs128621199 X:100611846-100611846 X:101356858-101356858
30 BTK NM_000061.2(BTK): c.1506C> A (p.Cys502Ter) single nucleotide variant Pathogenic rs41310709 X:100611100-100611100 X:101356112-101356112
31 BTK NM_000061.2(BTK): c.1516T> C (p.Cys506Arg) single nucleotide variant Pathogenic rs128621200 X:100611090-100611090 X:101356102-101356102
32 BTK NM_000061.2(BTK): c.1558C> T (p.Arg520Ter) single nucleotide variant Pathogenic rs128621201 X:100611048-100611048 X:101356060-101356060
33 BTK NM_000061.2(BTK): c.1559G> A (p.Arg520Gln) single nucleotide variant Pathogenic rs128621202 X:100611047-100611047 X:101356059-101356059
34 BTK BTK, 1-BP DEL, 1720A deletion Pathogenic
35 BTK BTK, 4-BP DEL, CODON 527, GTTT deletion Pathogenic
36 BTK NM_000061.2(BTK): c.1631+1G> T single nucleotide variant Pathogenic X:100609617-100609617 X:101354629-101354629
37 BTK BTK, 6-BP INS, NT2041 insertion Pathogenic
38 BTK NM_000061.2(BTK): c.1684C> T (p.Arg562Trp) single nucleotide variant Pathogenic rs128621204 X:100608924-100608924 X:101353936-101353936
39 BTK NM_000061.2(BTK): c.1741T> C (p.Trp581Arg) single nucleotide variant Pathogenic rs128621205 X:100608867-100608867 X:101353879-101353879
40 BTK NM_000061.2(BTK): c.1766A> G (p.Glu589Gly) single nucleotide variant Pathogenic rs128621206 X:100608324-100608324 X:101353336-101353336
41 BTK NM_000061.2(BTK): c.1820C> A (p.Ala607Asp) single nucleotide variant Pathogenic rs128621208 X:100608270-100608270 X:101353282-101353282
42 BTK NM_000061.2(BTK): c.1838G> A (p.Gly613Asp) single nucleotide variant Pathogenic rs128621209 X:100608252-100608252 X:101353264-101353264
43 BTK NM_000061.2(BTK): c.1889T> A (p.Met630Lys) single nucleotide variant Pathogenic rs128621210 X:100608201-100608201 X:101353213-101353213
44 BTK NM_000061.2(BTK): c.1906G> T (p.Glu636Ter) single nucleotide variant Pathogenic rs128622211 X:100608184-100608184 X:101353196-101353196
45 BTK NM_000061.2(BTK): c.1955T> C (p.Leu652Pro) single nucleotide variant Pathogenic rs128622212 X:100604898-100604898 X:101349910-101349910
46 BTK BTK, 26-BP INS, NT2019 insertion Pathogenic
47 BTK NM_000061.2(BTK): c.1685G> C (p.Arg562Pro) single nucleotide variant Pathogenic rs104894770 X:100608923-100608923 X:101353935-101353935
48 BTK NM_000061.2(BTK): c.642_643del (p.Ser214fs) deletion Pathogenic X:100615689-100615690 X:101360701-101360702
49 BTK NM_000061.2(BTK): c.-31+5G> A single nucleotide variant Pathogenic X:100641045-100641045 X:101386057-101386057
50 BTK BTK, 6.1-KB DEL deletion Pathogenic

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

74 (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 39)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.82 WAS SRC SH2D1A PLCG2 ITK IL4
2
Show member pathways
13.18 WAS SRC PLCG2 ITK IL4 CD40LG
3
Show member pathways
13.16 SRC PLCG2 ITK CD79A BTK
4
Show member pathways
13.12 WAS SRC PLCG2 IL4 CD40LG CD40
5
Show member pathways
13.09 WAS SRC SH2D1A PLCG2 ITK CD79A
6
Show member pathways
13.06 SRC PLCG2 IL4 CD79A CD40 BTK
7
Show member pathways
12.92 SRC PLCG2 ITK CD79A BTK
8
Show member pathways
12.79 WAS SRC PLCG2 ITK BTK
9
Show member pathways
12.73 WAS SRC PLCG2 ITK
10
Show member pathways
12.71 SRC PLCG2 IGHM CD79A CD40LG CD40
11
Show member pathways
12.59 SRC PLCG2 CD79A BTK
12
Show member pathways
12.5 SRC PLCG2 CD40LG CD40 BTK
13
Show member pathways
12.45 WAS ITK IL4 CD40LG
14
Show member pathways
12.39 WAS SH2D1A PLCG2 IL4
15
Show member pathways
12.28 SH3BP5 PLCG2 CD79A BTK
16
Show member pathways
12.23 WAS PLCG2 ITK CD40LG CD40
17
Show member pathways
12.23 SRC PLCG2 ITK IL4 IGHM CD79A
18
Show member pathways
12.18 SRC PLCG2 BTK
19
Show member pathways
12.18 WAS CD40 BTK
20
Show member pathways
12.18 WAS SRC PLCG2 BTK
21
Show member pathways
12.11 IL4 CD40LG CD40
22
Show member pathways
12.09 WAS SRC PLCG2 ITK BTK
23
Show member pathways
12.07 SRC PLCG2 BTK
24 12.03 SRC SH2D1A ITK BTK
25 12.01 SH2D1A PLCG2 ITK IL4 CD79A CD40LG
26 11.95 SH2D1A CD40LG CD40
27
Show member pathways
11.95 SRC PLCG2 IL4 BTK
28
Show member pathways
11.93 PLCG2 CD79A BTK
29 11.91 SRC PLCG2 BTK
30
Show member pathways
11.82 PLCG2 ITK CD79A BTK
31
Show member pathways
11.79 SRC PLCG2 BTK
32 11.79 PLCG2 CD40LG CD40 BTK
33
Show member pathways
11.78 PLCG2 ITK IL4 IGHM CD79A CD40LG
34 11.28 SRC PLCG2 ITK BTK
35 11.24 IL4 CD40LG CD40
36 11.19 IL4 CD40LG CD40
37 11.19 CD79A CD40LG CD40 BTK
38 11.17 CD40LG CD40
39 11.07 IL4 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 external side of plasma membrane GO:0009897 8.92 IGHM CD79A CD40LG CD40

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 intracellular signal transduction GO:0035556 9.88 SRC SH3BP5 PLCG2 ITK BTK
2 regulation of immune response GO:0050776 9.81 SH2D1A IL4 CD40LG CD40
3 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.74 CD40LG CD40 BTK
4 Fc-gamma receptor signaling pathway involved in phagocytosis GO:0038096 9.73 WAS SRC PLCG2
5 Fc-epsilon receptor signaling pathway GO:0038095 9.72 PLCG2 ITK BTK
6 adaptive immune response GO:0002250 9.72 SH2D1A ITK IGHM CD79A BTK
7 T cell receptor signaling pathway GO:0050852 9.71 WAS PLCG2 ITK BTK
8 immune system process GO:0002376 9.7 SRC SH2D1A ITK IGHM CD79A CD40
9 T cell activation GO:0042110 9.67 WAS ITK IL4
10 platelet activation GO:0030168 9.67 SRC PLCG2 CD40LG CD40
11 B cell proliferation GO:0042100 9.63 CD79A CD40LG CD40
12 peptidyl-tyrosine autophosphorylation GO:0038083 9.61 SRC ITK BTK
13 cellular response to reactive oxygen species GO:0034614 9.59 SRC BTK
14 positive regulation of interleukin-12 production GO:0032735 9.58 CD40LG CD40
15 positive regulation of endothelial cell apoptotic process GO:2000353 9.58 CD40LG CD40
16 B cell differentiation GO:0030183 9.56 PLCG2 IL4 CD79A CD40LG
17 positive regulation of isotype switching to IgG isotypes GO:0048304 9.54 IL4 CD40
18 regulation of immunoglobulin secretion GO:0051023 9.52 CD40LG CD40
19 B cell receptor signaling pathway GO:0050853 9.35 PLCG2 ITK IGHM CD79A BTK
20 B cell activation GO:0042113 8.92 IL4 CD79A CD40 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 9.73 WAS SRC SH3BP5 SH2D1A PLCG2 ITK
2 protein tyrosine kinase activity GO:0004713 9.33 SRC ITK BTK
3 non-membrane spanning protein tyrosine kinase activity GO:0004715 8.8 SRC ITK BTK

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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