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XLA
MCID: AGM019
MIFTS: 71

Agammaglobulinemia, X-Linked (XLA)

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

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MalaCards integrated aliases for Agammaglobulinemia, X-Linked:

Name: Agammaglobulinemia, X-Linked 57 39
X-Linked Agammaglobulinemia 12 73 25 20 43 58 72 29 54 6 15 70
Xla 57 25 20 43 72
Bruton Type Agammaglobulinemia 73 20 58 44
Bruton's Agammaglobulinemia 25 20 43
Bruton-Type Agammaglobulinemia 57 12
Agammaglobulinemia, X-Linked 1 57 13
Hypogammaglobulinemia 43 70
Agammaglobulinemia 43 70
Btk-Deficiency 20 58
Agmx1 57 72
Imd1 57 72
Bruton Agammaglobulinemia Tyrosine Kinase Deficiency 12
Agammaglobulinemia, X-Linked, Type 1; Agmx1 57
Agammaglobulinemia, Bruton Tyrosine Kinase 20
Bruton's Sex-Linked Agammaglobulinemia 12
Agammaglobulinemia, X-Linked, Type 1 57
X-Linked Agammaglobulinemia Type 1 72
Bruton's Type Agammaglobulinemia 12
Congenital Agammaglobulinemia 43
Bruton's Agammaglobulinaemia 12
Immunodeficiency 1; Imd1 57
Agammaglobulinemia, Btk 20
Immunodeficiency Type 1 72
Immunodeficiency 1 57
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®:

57 (Updated 20-May-2021)
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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare immunological diseases


Sources

Summaries for Agammaglobulinemia, X-Linked

About this section
MedlinePlus Genetics : 43 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 4, 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 Rho(D) Immune Globulin have been mentioned in the context of this disorder. Affiliated tissues include b cells, bone marrow and eye, 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.

GARD : 20 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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 X-linked agammaglobulinemia (XLA) is a rare genetic disorder discovered in 1952 that affects the body's... more...

GeneReviews: NBK1453
Sources

Related Diseases for Agammaglobulinemia, X-Linked

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

(show top 50) (show all 714)
# Related Disease Score Top Affiliating Genes
1 agammaglobulinemia 4, autosomal recessive 32.7 SYK BLNK
2 agammaglobulinemia, non-bruton type 32.7 IGHM BLNK
3 agammaglobulinemia 30.7 TXK TEC SYK SRC PLEK ITK
4 common variable immunodeficiency 30.4 ICOSLG CD40 CD19 BTK
5 immunodeficiency with hyper-igm, type 1 30.3 ICOSLG CD40 CD19 BTK
6 immune deficiency disease 30.3 WAS TEC SYK ICOSLG CD40 BTK
7 macroglobulinemia 30.3 SYK CD40 BTK BLNK
8 cd40 ligand deficiency 30.2 ICOSLG CD40 BTK
9 wiskott-aldrich syndrome 30.2 WAS SYK SRC PLEK BTK
10 thrombocytopenia due to platelet alloimmunization 30.1 SYK ICOSLG CD19
11 dermatitis, atopic 30.1 TXK SYK ICOSLG CD40
12 b-cell lymphoma 30.1 SYK PLCG2 CD40 CD19 BTK BCR
13 myeloma, multiple 30.1 SRC ICOSLG CD40 CD19 BTK
14 mantle cell lymphoma 30.1 SYK LYN CD40 CD19 BTK
15 cryoglobulinemia, familial mixed 30.0 IGHM BCR
16 congenital hypogammaglobulinemia 30.0 CD19 BTK BLNK
17 immunoglobulin alpha deficiency 29.9 ICOSLG CD40 CD19
18 diffuse large b-cell lymphoma 29.9 SYK CD40 CD19 BTK
19 leukemia, acute lymphoblastic 29.9 SYK SRC LYN ICOSLG CD40 CD19
20 thrombocytopenia 29.8 WAS SYK SRC PLCG2 ITK CD40
21 leukemia, acute myeloid 29.8 SYK SRC LYN ICOSLG CD19 BTK
22 waldenstroem's macroglobulinemia 29.8 IGHM CD40 CD19 BTK
23 b cell deficiency 29.7 TEC PLCG2 ITK ICOSLG CD40 CD19
24 lymphoma, mucosa-associated lymphoid type 29.7 ICOSLG CD40 CD19
25 peripheral t-cell lymphoma 29.7 SYK ITK CD19
26 omenn syndrome 29.6 WAS ICOSLG CD19
27 burkitt lymphoma 29.6 LYN CD40 CD19 BCR
28 leukemia, chronic lymphocytic 29.5 SYK PLCG2 LYN IGHM ICOSLG CD40
29 leukocyte adhesion deficiency, type i 29.5 WAS SYK PLEK
30 lymphoma, non-hodgkin, familial 29.4 SYK LYN ICOSLG CD40 CD19 BTK
31 immunodeficiency 61 11.7
32 whim syndrome 11.6
33 agammaglobulinemia 5, autosomal dominant 11.5
34 agammaglobulinemia 6, autosomal recessive 11.5
35 agammaglobulinemia 2, autosomal recessive 11.5
36 agammaglobulinemia 3, autosomal recessive 11.5
37 agammaglobulinemia 7, autosomal recessive 11.5
38 agammaglobulinemia 8, autosomal dominant 11.5
39 osteopetrosis, autosomal recessive 7 11.5
40 ectodermal dysplasia and immunodeficiency 1 11.4
41 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia 11.4
42 mohr-tranebjaerg syndrome 11.3
43 immunodeficiency, common variable, 2 11.2
44 pulmonary alveolar proteinosis with hypogammaglobulinemia 11.2
45 agammaglobulinemia, microcephaly, and severe dermatitis 11.2
46 microcephaly with chemotactic defect and transient hypogammaglobulinemia 11.2
47 good syndrome 11.2
48 immunoglobulin g deficiency 11.1
49 lymphoproliferative syndrome 2 11.1
50 immunodeficiency, common variable, 1 11.1

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


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

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



Diseases related to Agammaglobulinemia, X-Linked
Sources

Symptoms & Phenotypes for Agammaglobulinemia, X-Linked

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Human phenotypes related to Agammaglobulinemia, X-Linked:

58 31 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 chronic otitis media 58 31 hallmark (90%) Very frequent (99-80%) HP:0000389
3 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
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 ulcer 58 31 hallmark (90%) Very frequent (99-80%) HP:0200042
9 abnormality of the tonsils 58 31 hallmark (90%) Very frequent (99-80%) HP:0100765
10 glossoptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000162
11 conjunctivitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000509
12 skin rash 58 31 hallmark (90%) Very frequent (99-80%) HP:0000988
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 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
26 hepatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012115
27 alopecia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001596
28 autoimmunity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002960
29 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001873
30 neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0002664
31 hypopigmented skin patches 58 31 occasional (7.5%) Occasional (29-5%) HP:0001053
32 weight loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0001824
33 osteomyelitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002754
34 encephalitis 31 HP:0002383
35 hearing impairment 31 HP:0000365
36 delayed speech and language development 31 HP:0000750
37 abnormality of the lymphatic system 58 Very frequent (99-80%)
38 otitis media 31 HP:0000388
39 recurrent urinary tract infections 31 HP:0000010
40 abnormal lung morphology 58 Frequent (79-30%)
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 cor pulmonale 31 HP:0001648
47 epididymitis 31 HP:0000031
48 pyoderma 31 HP:0000999
49 enteroviral hepatitis 31 HP:0001412
50 enteroviral dermatomyositis syndrome 31 HP:0003729

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
encephalitis
meningitis
delayed speech acquisition

Head And Neck Ears:
otitis media
hearing loss

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

Respiratory Nasopharynx:
sinusitis
rudimentary adenoids
rudimentary tonsils

Head And Neck Eyes:
conjunctivitis

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 (Updated 20-May-2021)

UMLS symptoms related to Agammaglobulinemia, X-Linked:


diarrhea

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

26 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.94 SYK BCR PLCG2
2 Decreased viability GR00055-A-2 10.94 SYK BCR PLCG2
3 Decreased viability GR00154-A 10.94 BTK
4 Decreased viability GR00221-A-1 10.94 BTK SYK TXK BMX PLCG2
5 Decreased viability GR00221-A-2 10.94 BTK SYK TXK BCR SH3KBP1
6 Decreased viability GR00221-A-3 10.94 BTK LYN SYK TXK
7 Decreased viability GR00221-A-4 10.94 BTK TXK BCR BMX ITK
8 Decreased viability GR00249-S 10.94 SYK BCR BMX PLCG2 ITK
9 Decreased viability GR00301-A 10.94 BTK BCR ITK SRC TEC
10 Decreased viability GR00342-S-3 10.94 BCR BMX
11 Decreased viability GR00381-A-1 10.94 TXK
12 Decreased viability GR00386-A-1 10.94 SYK PLCG2
13 Decreased viability GR00402-S-2 10.94 SYK BCR TEC
14 Decreased cell migration GR00055-A-1 10.07 LYN
15 Decreased cell migration GR00055-A-3 10.07 BCR LYN PLCG2 SYK
16 Increased viability GR00342-S-1 9.1 ITK LYN
17 Increased viability GR00342-S-2 9.1 ITK LYN
18 Increased viability GR00342-S-3 9.1 ITK LYN
19 Decreased cell viability after pRB stimulation GR00230-A-1 9.02 SYK
20 Decreased simian virus 40 (SV40) infection GR00356-A-2 8.96 SRC
21 Decreased viability in CMK cells GR00105-A-0 8.96 ITK SRC

MGI Mouse Phenotypes related to Agammaglobulinemia, X-Linked:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.83 BCR BLNK BTK CD19 CD40 ITK
2 immune system MP:0005387 9.5 BCR BLNK BMX BTK CD19 CD40
Sources

Drugs & Therapeutics for Agammaglobulinemia, X-Linked

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

(show top 50) (show all 78)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
2 Rho(D) Immune Globulin Phase 4
3 gamma-Globulins Phase 4
4 Viscosupplements Phase 4
5 Immunoglobulin G Phase 4
6
Tyrosine Approved, Investigational, Nutraceutical Phase 3 60-18-4 6057
7 Immunoglobulins Phase 3
8 Antibodies Phase 3
9 Immunoglobulins, Intravenous Phase 3
10 Antiviral Agents Phase 2, Phase 3
11 Plerixafor octahydrochloride Phase 2, Phase 3
12 Anti-Retroviral Agents Phase 2, Phase 3
13 Anti-HIV Agents Phase 2, Phase 3
14 Pharmaceutical Solutions Phase 3
15 Liver Extracts Phase 3
16
Peginterferon alfa-2a Approved, Investigational Phase 2 198153-51-4 5360545
17
ofatumumab Approved Phase 2 679818-59-8 6918251
18
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
19
Melphalan Approved Phase 2 148-82-3 4053 460612
20
alemtuzumab Approved, Investigational Phase 2 216503-57-0
21
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
22
Lenalidomide Approved Phase 2 191732-72-6 216326
23 interferons Phase 2
24 Interferon-alpha Phase 2
25 Interferon alpha-2 Phase 2
26 Antibodies, Monoclonal Phase 2
27 Immunologic Factors Phase 2
28 Immunosuppressive Agents Phase 2
29 Alkylating Agents Phase 2
30 Antineoplastic Agents, Immunological Phase 2
31 Vaccines Phase 2
32 Adjuvants, Immunologic Phase 2
33 Angiogenesis Inhibitors Phase 2
34 Heptavalent Pneumococcal Conjugate Vaccine Phase 2
35
tannic acid Approved 1401-55-4
36
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
37
rituximab Approved 174722-31-7 10201696
38
Methotrexate Approved 1959-05-2, 59-05-2 126941
39
Methylprednisolone Approved, Vet_approved 83-43-2 6741
40
Methylprednisolone hemisuccinate Approved 2921-57-5
41
Levoleucovorin Approved, Investigational 68538-85-2 149436
42
Prednisolone Approved, Vet_approved 50-24-8 5755
43
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
44
Prednisolone acetate Approved, Vet_approved 52-21-1
45
Clotrimazole Approved, Vet_approved 23593-75-1 2812
46
Busulfan Approved, Investigational 55-98-1 2478
47
Prednisone Approved, Vet_approved 53-03-2 5865
48
Etoposide Approved 33419-42-0 36462
49
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
50
Prednisolone phosphate Approved, Vet_approved 302-25-0

Interventional clinical trials:

(show all 38)
# Name Status NCT ID Phase Drugs
1 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
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 A Multicenter Study on the Efficacy and Safety of Vivaglobin® in Previously Untreated Patients (PUPs) With Primary Immunodeficiency (PID) Completed NCT00520494 Phase 4 Vivaglobin
4 Does Replacement With CMVIG in Hypogammaglobulinemic Patients Decrease the Rate of Opportunistic Infections and Chronic Rejection? Completed NCT00137748 Phase 2, Phase 3 CMV-Ig
5 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
6 A Multicenter Extension Study on the Safety and Efficacy of IgPro10 in Patients With Primary Immunodeficiency (PID) Completed NCT00322556 Phase 3 Immunoglobulins Intravenous (Human)
7 A Multicenter Study on the Efficacy, Safety and Pharmacokinetics of IgPro10 in Patients With Primary Immunodeficiency (PID) Completed NCT00168025 Phase 3 Immunoglobulins Intravenous (Human)
8 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)
9 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
10 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). Completed NCT01581593 Phase 3
11 A Phase III Double-Blind Randomized Crossover Study of Plerixafor Versus G-CSF in the Treatment of Patients With WHIM Syndrome. Completed NCT02231879 Phase 2, Phase 3 Plerixafor;G-CSF
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 Study to Evaluate the Pharmacokinetics and Safety of Subgam-VF in Primary Immunodeficiency Diseases Completed NCT01884311 Phase 3
14 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
15 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
16 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
17 Double-blind, Randomized, Placebo-controlled, Prospective Phase III Study Evaluating Efficacy and Safety of Panzyga in Primary Infection Prophylaxis in Patients With Chronic Lymphocytic Leukemia ("PRO-SID" Study) Recruiting NCT04502030 Phase 3
18 A Randomized, Double-Blind, Placebo-Controlled, Multicenter Trial to Evaluate the Efficacy and Safety of Oral BTK Inhibitor PRN1008 in Moderate to Severe Pemphigus Active, not recruiting NCT03762265 Phase 3 PRN1008 Oral Tablet;Placebo Oral Tablet
19 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
20 IVIG for Acquired Immunodeficiency in Lung Transplant Patients Completed NCT00115778 Phase 2 IVIG
21 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)
22 Combination of Lenalidomide and Ofatumumab in Patients With Previously Treated Chronic Lymphocytic Leukemia and Small Lymphocytic Lymphoma (CLL/SLL) Completed NCT01002755 Phase 2 Lenalidomide
23 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
24 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
25 Mutation of the BTK Gene and Genotype-phenotype Correlation of Chinese Patients With X-Linked Agammaglobulinemia Unknown status NCT02234791
26 Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders Unknown status NCT00004341
27 Investigation of Molecular, Genetic and Cellular Mechanisms of Human Immune Disorders and Deficiencies Unknown status NCT01981785
28 A Pilot Study to Assess Tolerability of Subcutaneous Immunoglobulin Treatment (Hizentra) in Patients Undergoing Allogeneic Hematopoietic Cell Transplantation Completed NCT03401268 subcutaneous immunoglobulin
29 Intravenous Immunoglobulin for Early Prevention of Cardiopulmonary Bypass Induced Hypogammaglobulinemia in Infants and Neonates Completed NCT02043379 IVIG
30 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
31 Personalized Immunotherapeutic for Antibiotic-resistant Infection Completed NCT02508584 Early Phase 1
32 Hypogammaglobulinemia and Immunization Responses to Measles in Rituximab-treated Multiple Sclerosis Patients Recruiting NCT04283747
33 Sequential Transplantation of Umbilical Cord Blood Stem Cells and Islet Cells in Children and Adolescents With Monogenic Immunodeficiency Type 1 Diabetes Mellitus Recruiting NCT03835312
34 Antibodies Production After Covid-19 Vaccination Among Patients With Medical History of Cancer and Anti-CD-20 Treatment Recruiting NCT04779996
35 Analysis of Medical Therapy and History as Risks of Immunodeficiency in Multiple Sclerosis Patients Not yet recruiting NCT04447937
36 Assessment of Immunogenicity of Zostavax® in Patients With Antibody Deficiency 60 Years of Age and Older Terminated NCT02960399
37 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;methotrexate;methylprednisolone;prednisone
38 Quality of Life and Neuropsychiatric Sequelae in Patients Treated With Gene Therapy for ADA-SCID and in Their Parents Withdrawn NCT01182857

Search NIH Clinical Center for Agammaglobulinemia, X-Linked

Cochrane evidence based reviews: bruton type agammaglobulinemia

Sources

Genetic Tests for Agammaglobulinemia, X-Linked

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Genetic tests related to Agammaglobulinemia, X-Linked:

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

Anatomical Context for Agammaglobulinemia, X-Linked

About this section

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

40
B Cells, Bone Marrow, Eye, Bone, Liver, Lung, Myeloid
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Publications for Agammaglobulinemia, X-Linked

About this section

Articles related to Agammaglobulinemia, X-Linked:

(show top 50) (show all 915)
# Title Authors PMID Year
1
Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study. 54 61 6 25
12217331 2002
2
Mutations in btk in patients with presumed X-linked agammaglobulinemia. 25 54 6 61
9545398 1998
3
Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course. 6 25 54 61
9445504 1998
4
Genetic analysis of patients with defects in early B-cell development. 6 25 61
15661032 2005
5
Clinical and molecular analysis of patients with defects in micro heavy chain gene. 25 57 61
12370281 2002
6
A mutation in Bruton's tyrosine kinase as a cause of selective anti-polysaccharide antibody deficiency. 6 57
11445810 2001
7
Maternal germinal mosaicism of X-linked agammaglobulinemia. 57 25 61
11241495 2001
8
X-linked agammaglobulinemia. A clinical and molecular analysis. 61 25 57
8982147 1996
9
The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. 57 6
8380905 1993
10
X-linked agammaglobulinemia: an analysis of 96 patients. 57 25 61
2581110 1985
11
Mutations of the Igbeta gene cause agammaglobulinemia in man. 25 57
17709424 2007
12
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 54 61
12768435 2003
13
XLA patients with BTK splice-site mutations produce low levels of wild-type BTK transcripts. 54 6 61
12405164 2002
14
Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia. 6 61 54
12204007 2002
15
Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis. 61 6 54
11742281 2001
16
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. 6 54 61
11564824 2001
17
Stability and peptide binding specificity of Btk SH2 domain: molecular basis for X-linked agammaglobulinemia. 6 54 61
11206059 2000
18
BTK mutations in patients with X-linked agammaglobulinemia: lack of correlation between presence of peripheral B lymphocytes and specific mutations. 6 61 54
11102984 2000
19
Genetic defect in human X-linked agammaglobulinemia impedes a maturational evolution of pro-B cells into a later stage of pre-B cells in the B-cell differentiation pathway. 61 54 6
10887125 2000
20
Bruton's tyrosine kinase mutations in 8 Chinese families with X-linked agammaglobulinemia. 61 6 54
10737994 2000
21
Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene. 6 54 61
10678660 2000
22
Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: a nationwide study of Btk deficiency in Japan. 61 54 6
8695804 1996
23
The spectrum of mutations in Btk that cause X-linked agammaglobulinemia. 54 61 6
7554467 1995
24
Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia. 61 54 6
7880320 1994
25
Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families. 6 54 61
7849721 1994
26
Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase. 61 54 6
7849697 1994
27
Brief report: a point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia. 6 61 54
8164701 1994
28
Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis. 54 6 61
8162056 1994
29
Clinical and genetic features of the patients with X-Linked agammaglobulinemia from Turkey: Single-centre experience. 61 6
29424453 2018
30
Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000-2015). 61 6
27512878 2016
31
Clinical characteristics and outcomes of primary antibody deficiency: a 20-year follow-up study. 61 6
24820629 2014
32
Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia. 6 61
19904586 2010
33
Mutation of the BTK gene and clinical feature of X-linked agammaglobulinemia in mainland China. 61 6
19039656 2009
34
Molecular analysis of the pre-BCR complex in a large cohort of patients affected by autosomal-recessive agammaglobulinemia. 61 54 25
17410177 2007
35
[A retrospective study of one case of X-linked agammaglobulinemia]. 6 61
17327079 2006
36
X-linked agammaglobulinemia: report on a United States registry of 201 patients. 25 54 61
16862044 2006
37
Severe neutropenia in Japanese patients with x-linked agammaglobulinemia. 6 61
16160918 2005
38
BTK: 22 novel and 25 recurrent mutations in European patients with X-linked agammaglobulinemia. 6 61
14974089 2004
39
Bruton tyrosine kinase gene mutations in Argentina. 6 61
12655572 2003
40
Composition of precursor B-cell compartment in bone marrow from patients with X-linked agammaglobulinemia compared with healthy children. 6 61
11809909 2002
41
Crystal structure of Bruton's tyrosine kinase domain suggests a novel pathway for activation and provides insights into the molecular basis of X-linked agammaglobulinemia. 6 61
11527964 2001
42
Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia. 25 54 61
10220140 1999
43
Functional analysis of peripheral blood B cells in patients with X-linked agammaglobulinemia. 61 25 54
9780159 1998
44
Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia. 61 6
9143921 1997
45
Discordant phenotype in siblings with X-linked agammaglobulinemia. 61 6
8644706 1996
46
X-linked agammaglobulinemia presenting as transient hypogammaglobulinemia of infancy. 57 61
7722175 1995
47
Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease. 6 61
7809124 1994
48
Application of carrier testing to genetic counseling for X-linked agammaglobulinemia. 61 57
7506482 1994
49
Carrier detection and prenatal diagnosis of X-linked agammaglobulinemia. 61 57
1642281 1992
50
Evidence for failure of V(D)J recombination in bone marrow pre-B cells from X-linked agammaglobulinemia. 61 57
1602011 1992
Sources

Variations for Agammaglobulinemia, X-Linked

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ClinVar genetic disease variations for Agammaglobulinemia, X-Linked:

6 (show top 50) (show all 108)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BTK NM_000061.2(BTK):c.2T>C (p.Met1Thr) SNV Pathogenic 11349 rs128620186 GRCh37: X:100630271-100630271
GRCh38: X:101375283-101375283
2 BTK BTK, ALA-ASP, 1952C-A SNV Pathogenic 11350 GRCh37:
GRCh38:
3 BTK NM_000061.2(BTK):c.97A>C (p.Thr33Pro) SNV Pathogenic 11351 rs128620189 GRCh37: X:100630176-100630176
GRCh38: X:101375188-101375188
4 BTK NM_000061.2(BTK):c.141+3_141+4del Deletion Pathogenic 11353 rs864321661 GRCh37: X:100630128-100630129
GRCh38: X:101375140-101375141
5 BTK NM_000061.2(BTK):c.310-2A>G SNV Pathogenic 11355 rs864321663 GRCh37: X:100625069-100625069
GRCh38: X:101370081-101370081
6 BTK NM_000061.2(BTK):c.338T>A (p.Val113Asp) SNV Pathogenic 11356 rs128621190 GRCh37: X:100625039-100625039
GRCh38: X:101370051-101370051
7 BTK NM_000061.2(BTK):c.389del (p.Asn130fs) Deletion Pathogenic 11357 rs864321664 GRCh37: X:100624988-100624988
GRCh38: X:101370000-101370000
8 BTK NM_000061.2(BTK):c.588_589insCTACATAG (p.Ile197fs) Insertion Pathogenic 11359 rs1569293253 GRCh37: X:100617160-100617161
GRCh38: X:101362172-101362173
9 BTK NM_000061.2(BTK):c.653del (p.Lys218fs) Deletion Pathogenic 11360 rs1569292813 GRCh37: X:100615679-100615679
GRCh38: X:101360691-101360691
10 BTK NM_000061.2(BTK):c.718G>T (p.Glu240Ter) SNV Pathogenic 11361 rs128621191 GRCh37: X:100615614-100615614
GRCh38: X:101360626-101360626
11 BTK NM_000061.2(BTK):c.839+1G>A SNV Pathogenic 11364 rs1569292649 GRCh37: X:100615075-100615075
GRCh38: X:101360087-101360087
12 BTK BTK, 1-BP DEL/3-BP INS, CODON 261 Indel Pathogenic 11365 GRCh37:
GRCh38:
13 BTK NM_000061.2(BTK):c.919A>G (p.Arg307Gly) SNV Pathogenic 11367 rs128621195 GRCh37: X:100613660-100613660
GRCh38: X:101358672-101358672
14 BTK NM_000061.2(BTK):c.1001A>C (p.Tyr334Ser) SNV Pathogenic 11368 rs128621196 GRCh37: X:100613399-100613399
GRCh38: X:101358411-101358411
15 BTK BTK, 1-BP DEL, IVS11DS, +1G Deletion Pathogenic 11369 GRCh37:
GRCh38:
16 BTK BTK, IVS12AS, A-T, -2 SNV Pathogenic 11370 GRCh37:
GRCh38:
17 BTK BTK, 16-BP INS, NT1263 Insertion Pathogenic 11372 GRCh37:
GRCh38:
18 BTK BTK, 1-BP DEL, 1720A Deletion Pathogenic 11379 GRCh37:
GRCh38:
19 BTK BTK, 4-BP DEL, CODON 527, GTTT Deletion Pathogenic 11380 GRCh37:
GRCh38:
20 BTK NM_000061.2(BTK):c.1631+1G>T SNV Pathogenic 11382 rs1569291215 GRCh37: X:100609617-100609617
GRCh38: X:101354629-101354629
21 BTK NM_000061.2(BTK):c.1741T>C (p.Trp581Arg) SNV Pathogenic 11384 rs128621205 GRCh37: X:100608867-100608867
GRCh38: X:101353879-101353879
22 BTK NM_000061.2(BTK):c.1766A>G (p.Glu589Gly) SNV Pathogenic 11385 rs128621206 GRCh37: X:100608324-100608324
GRCh38: X:101353336-101353336
23 BTK NM_000061.2(BTK):c.1820C>A (p.Ala607Asp) SNV Pathogenic 11387 rs128621208 GRCh37: X:100608270-100608270
GRCh38: X:101353282-101353282
24 BTK NM_000061.2(BTK):c.1838G>A (p.Gly613Asp) SNV Pathogenic 11388 rs128621209 GRCh37: X:100608252-100608252
GRCh38: X:101353264-101353264
25 BTK NM_000061.2(BTK):c.1889T>A (p.Met630Lys) SNV Pathogenic 11389 rs128621210 GRCh37: X:100608201-100608201
GRCh38: X:101353213-101353213
26 BTK NM_000061.2(BTK):c.1906G>T (p.Glu636Ter) SNV Pathogenic 11390 rs128622211 GRCh37: X:100608184-100608184
GRCh38: X:101353196-101353196
27 BTK BTK, 6-BP INS, NT2041 Insertion Pathogenic 11391 GRCh37:
GRCh38:
28 BTK NM_000061.2(BTK):c.1955T>C (p.Leu652Pro) SNV Pathogenic 11392 rs128622212 GRCh37: X:100604898-100604898
GRCh38: X:101349910-101349910
29 BTK BTK, 26-BP INS, NT2019 Insertion Pathogenic 11393 GRCh37:
GRCh38:
30 BTK NM_000061.2(BTK):c.642_643del (p.Ser214fs) Deletion Pathogenic 11395 rs1569292818 GRCh37: X:100615689-100615690
GRCh38: X:101360701-101360702
31 BTK NM_000061.2(BTK):c.-31+5G>A SNV Pathogenic 11396 rs1131691354 GRCh37: X:100641045-100641045
GRCh38: X:101386057-101386057
32 BTK BTK, 6.1-KB DEL Deletion Pathogenic 11397 GRCh37:
GRCh38:
33 BTK NM_000061.2(BTK):c.726dup (p.Ile243fs) Duplication Pathogenic 562232 rs1569292774 GRCh37: X:100615605-100615606
GRCh38: X:101360617-101360618
34 BTK NM_000061.2(BTK):c.1004T>A (p.Val335Asp) SNV Pathogenic 619022 rs1569292214 GRCh37: X:100613396-100613396
GRCh38: X:101358408-101358408
35 BTK NM_000061.3(BTK):c.1784dup (p.Met596fs) Duplication Pathogenic 804063 rs1603001771 GRCh37: X:100608305-100608306
GRCh38: X:101353317-101353318
36 BTK NM_000061.3(BTK):c.721dup (p.Tyr241fs) Duplication Pathogenic 804064 rs1603008381 GRCh37: X:100615610-100615611
GRCh38: X:101360622-101360623
37 BTK NM_001287345.1(BTK):c.1038+1529A>G SNV Pathogenic 11343 rs128620184 GRCh37: X:100611833-100611833
GRCh38: X:101356845-101356845
38 BTK NM_001287345.1(BTK):c.1038+44A>G SNV Pathogenic 11346 rs28935478 GRCh37: X:100613318-100613318
GRCh38: X:101358330-101358330
39 BTK NM_001287345.1(BTK):c.1038+1464T>C SNV Pathogenic 11373 rs128621198 GRCh37: X:100611898-100611898
GRCh38: X:101356910-101356910
40 BTK NM_001287345.1(BTK):c.1038+1516C>A SNV Pathogenic 11374 rs128621199 GRCh37: X:100611846-100611846
GRCh38: X:101356858-101356858
41 BTK NM_001287345.1(BTK):c.1039-1418C>A SNV Pathogenic 11375 rs41310709 GRCh37: X:100611100-100611100
GRCh38: X:101356112-101356112
42 BTK NM_000061.2(BTK):c.557dup (p.Pro187fs) Duplication Pathogenic 11358 rs864321665 GRCh37: X:100617191-100617192
GRCh38: X:101362203-101362204
43 BTK NM_000061.2(BTK):c.862C>T (p.Arg288Trp) SNV Pathogenic 11366 rs128621194 GRCh37: X:100614313-100614313
GRCh38: X:101359325-101359325
44 BTK NM_000061.2(BTK):c.1516T>C (p.Cys506Arg) SNV Pathogenic 11376 rs128621200 GRCh37: X:100611090-100611090
GRCh38: X:101356102-101356102
45 BTK NM_000061.2(BTK):c.1763G>A (p.Trp588Ter) SNV Pathogenic 645226 rs1603001805 GRCh37: X:100608327-100608327
GRCh38: X:101353339-101353339
46 BTK NM_000061.2(BTK):c.1684C>T (p.Arg562Trp) SNV Pathogenic 11383 rs128621204 GRCh37: X:100608924-100608924
GRCh38: X:101353936-101353936
47 BTK NM_000061.2(BTK):c.1574G>A (p.Arg525Gln) SNV Pathogenic 11342 rs128620183 GRCh37: X:100609675-100609675
GRCh38: X:101354687-101354687
48 BTK NM_000061.2(BTK):c.37C>T (p.Arg13Ter) SNV Pathogenic 11344 rs128620187 GRCh37: X:100630236-100630236
GRCh38: X:101375248-101375248
49 BTK NM_000061.2(BTK):c.755G>A (p.Trp252Ter) SNV Pathogenic 11362 rs128621192 GRCh37: X:100615577-100615577
GRCh38: X:101360589-101360589
50 BTK NM_000061.2(BTK):c.1559G>A (p.Arg520Gln) SNV Pathogenic 11378 rs128621202 GRCh37: X:100611047-100611047
GRCh38: X:101356059-101356059

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

72 (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 rs156929123
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

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Expression for Agammaglobulinemia, X-Linked

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

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

(show all 38)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 65
Show member pathways
 14.03 WAS TXK TEC SYK SRC SH3KBP1
2
Akt Signaling 63
Show member pathways
 13.41 WAS TXK TEC SYK SRC PLCG2
3
Class I MHC mediated antigen processing and presentation 65
Show member pathways
 13.41 WAS SYK SRC SH3KBP1 PLCG2 LYN
4
Integrin Pathway 63
Show member pathways
 13.4 WAS TXK TEC SRC PLCG2 ITK
5
Phospholipase-C Pathway 63
Show member pathways
 13.09 SYK SRC PLCG2 LYN ITK BTK
6
Development Angiotensin activation of ERK 23
Show member pathways
 12.87 SYK SRC PLCG2 LYN IGHM BTK
7
Measles 36
Show member pathways
 12.86 SYK PLCG2 LYN CD40 CD19 BTK
8
CCR5 Pathway in Macrophages 63
Show member pathways
 12.83 WAS SRC PLCG2 LYN ITK
9
IL-2 Pathway 63
Show member pathways
 12.77 TEC SYK SRC PLCG2 LYN CD40
10
Downstream signaling events of B Cell Receptor (BCR) 65
Show member pathways
 12.75 SYK SRC SH3KBP1 PLCG2 LYN CD19
11
RANK Signaling in Osteoclasts 63
Show member pathways
 12.68 TEC SYK SRC PLCG2 LYN BTK
12
Fc-GammaR Pathway 63
Show member pathways
 12.63 SYK SRC PLCG2 LYN BTK BLNK
13
Immune response NFAT in immune response 23
Show member pathways
 12.58 SYK PLCG2 LYN ITK IGHM ICOSLG
14
B Cell Receptor Signaling Pathway (sino) 66
Show member pathways
 12.49 WAS SYK PLCG2 LYN CD40 CD19
15
Immune response Fc epsilon RI pathway 23
Show member pathways
 12.44 SYK SRC PLCG2 LYN ITK IGHM
16
B cell receptor signaling pathway (KEGG) 36
Show member pathways
 12.4 TEC SYK SH3BP5 PLCG2 LYN CD19
17
CLEC7A (Dectin-1) signaling 65
Show member pathways
 12.37 SYK SRC PLCG2 LYN
18
NF-kappaB Signaling 4
12.37 TEC SYK SH3KBP1 PLCG2 LYN ITK
19
Regulation of actin dynamics for phagocytic cup formation 65
Show member pathways
 12.32 WAS SYK SRC PLCG2 LYN BTK
20
ICos-ICosL Pathway in T-Helper Cell 63
Show member pathways
 12.3 WAS TXK TEC SYK PLCG2 ITK
21
C-type lectin receptor signaling pathway 36
Show member pathways
 12.26 SYK SRC PLCG2 BTK BLNK
22
Kit receptor signaling pathway 1
Show member pathways
 12.22 TEC SYK SRC LYN BTK
23
Platelet activation 36
12.08 SYK SRC PLCG2 LYN BTK
24
NF-kappa B signaling pathway 36
11.99 SYK PLCG2 LYN CD40 BTK BLNK
25
Fc gamma R-mediated phagocytosis 36
11.93 WAS SYK PLCG2 LYN
26
Development EPO-induced Jak-STAT pathway 23
Show member pathways
 11.93 TEC SRC PLCG2 LYN BTK
27
Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS) 65
Show member pathways
 11.89 SYK PLCG2 LYN
28
Tyrosine Kinases / Adaptors 4
11.78 TEC SYK SRC SH3KBP1 LYN ITK
29
Role of phospholipids in phagocytosis 65
Show member pathways
 11.67 SYK SRC PLCG2 LYN
30
Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway 1
11.57 TEC SRC LYN BTK
31
Class I PI3K signaling events 1
11.49 SRC PLCG2 LYN ITK BTK
32
Thromboxane A2 receptor signaling 1
11.48 SYK SRC LYN
33
Primary immunodeficiency 36
11.46 CD40 CD19 BTK BLNK
34
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers 65
Show member pathways
 11.35 TXK TEC SYK SH3KBP1 PLCG2 LYN
35
Alpha-synuclein signaling 1
11.33 SYK SRC LYN
36
Regulation of signaling by CBL 65
11.07 SYK LYN BLNK
37
Regulation of KIT signaling 65
10.88 SRC LYN
38
Atypical NF-kappaB pathway 1
10.81 SYK SRC
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GO Terms for Agammaglobulinemia, X-Linked

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.07 WAS TEC SYK SRC SH3KBP1 PLEK
2 cytoplasm GO:0005737 10.03 WAS TXK TEC SYK SRC SH3KBP1
3 extracellular exosome GO:0070062 9.97 WAS SRC PLCG2 LYN IGHM ICOSLG
4 membrane raft GO:0045121 9.71 SRC LYN CD19 BTK
5 ruffle membrane GO:0032587 9.61 SRC PLEK BMX
6 plasma membrane GO:0005886 9.55 WAS TXK TEC SYK SRC SH3KBP1
7 extrinsic component of cytoplasmic side of plasma membrane GO:0031234 9.54 SYK SRC LYN
8 postsynaptic specialization, intracellular component GO:0099091 8.96 SRC LYN

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.25 SRC SH3BP5 PLCG2 LYN ITK ICOSLG
2 protein phosphorylation GO:0006468 10.09 TXK TEC SYK SRC LYN ITK
3 phosphorylation GO:0016310 10.07 TXK TEC SYK SRC SH3KBP1 LYN
4 immune system process GO:0002376 10.06 TXK TEC SYK SRC LYN ITK
5 innate immune response GO:0045087 10.05 SYK SRC LYN IGHM BTK
6 T cell receptor signaling pathway GO:0050852 9.97 WAS TXK TEC PLCG2 ITK ICOSLG
7 Fc-gamma receptor signaling pathway involved in phagocytosis GO:0038096 9.96 WAS SYK SRC PLCG2 LYN
8 adaptive immune response GO:0002250 9.96 TXK TEC SYK LYN ITK IGHM
9 platelet activation GO:0030168 9.95 SYK SRC PLCG2 LYN CD40
10 Fc-epsilon receptor signaling pathway GO:0038095 9.95 TEC SYK PLCG2 LYN ITK BTK
11 protein autophosphorylation GO:0046777 9.95 TXK SYK SRC LYN BTK BMX
12 peptidyl-tyrosine phosphorylation GO:0018108 9.93 TXK TEC SYK SRC LYN BTK
13 integrin-mediated signaling pathway GO:0007229 9.92 TXK TEC SYK SRC PLEK
14 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.89 SYK SRC LYN BLNK
15 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.87 SYK SRC PLCG2 LYN
16 B cell activation GO:0042113 9.84 ICOSLG CD40 BTK BLNK
17 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.82 TEC SYK SRC
18 T cell costimulation GO:0031295 9.79 SRC LYN ICOSLG
19 T cell activation GO:0042110 9.79 WAS ITK ICOSLG
20 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.75 SRC LYN CD19
21 intracellular signal transduction GO:0035556 9.73 TEC SYK SRC SH3BP5 PLEK PLCG2
22 peptidyl-tyrosine autophosphorylation GO:0038083 9.7 TXK TEC SYK SRC LYN ITK
23 regulation of platelet activation GO:0010543 9.69 TXK TEC SYK
24 negative regulation of B cell proliferation GO:0030889 9.66 LYN BTK
25 positive regulation of B cell differentiation GO:0045579 9.64 SYK BTK
26 regulation of B cell receptor signaling pathway GO:0050855 9.64 LYN CD19
27 positive regulation of integrin activation GO:0033625 9.63 SRC PLEK
28 regulation of platelet aggregation GO:0090330 9.63 SYK LYN
29 immune response-regulating cell surface receptor signaling pathway GO:0002768 9.62 LYN CD40
30 cellular response to molecule of fungal origin GO:0071226 9.61 SYK BTK
31 regulation of B cell apoptotic process GO:0002902 9.6 LYN BTK
32 histamine secretion by mast cell GO:0002553 9.58 LYN BTK
33 B cell receptor signaling pathway GO:0050853 9.32 TEC SYK PLCG2 LYN ITK IGHM

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.49 WAS TXK TEC SYK SRC SH3KBP1
2 transferase activity GO:0016740 10.09 TXK TEC SYK SRC LYN ITK
3 nucleotide binding GO:0000166 10.06 TXK TEC SYK SRC LYN ITK
4 ATP binding GO:0005524 9.97 TXK TEC SYK SRC LYN ITK
5 enzyme binding GO:0019899 9.89 SRC LYN CD40 BLNK BCR
6 protein kinase activity GO:0004672 9.86 TXK TEC SYK SRC LYN ITK
7 kinase activity GO:0016301 9.85 TXK TEC SYK SRC SH3KBP1 LYN
8 SH3 domain binding GO:0017124 9.67 WAS SH3KBP1 SH3BP5 LYN
9 SH2 domain binding GO:0042169 9.63 SYK SRC BLNK
10 protein tyrosine kinase activity GO:0004713 9.56 TXK TEC SYK SRC LYN ITK
11 phosphorylation-dependent protein binding GO:0140031 9.48 PLCG2 LYN
12 non-membrane spanning protein tyrosine kinase activity GO:0004715 9.23 TXK TEC SYK SRC LYN ITK
Sources

Sources for Agammaglobulinemia, X-Linked

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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