XLA
MCID: AGM019
MIFTS: 73

Agammaglobulinemia, X-Linked (XLA)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases
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Aliases & Classifications for Agammaglobulinemia, X-Linked

MalaCards integrated aliases for Agammaglobulinemia, X-Linked:

Name: Agammaglobulinemia, X-Linked 57
X-Linked Agammaglobulinemia 11 24 19 42 58 75 73 28 53 5 14 71
Xla 57 24 19 42 73
Bruton Type Agammaglobulinemia 19 58 75 43
Bruton's Agammaglobulinemia 24 19 42
Bruton-Type Agammaglobulinemia 57 11
Agammaglobulinemia, X-Linked 1 57 12
Hypogammaglobulinemia 42 71
Agammaglobulinemia 42 71
Btk-Deficiency 19 58
Agmx1 57 73
Imd1 57 73
Bruton Agammaglobulinemia Tyrosine Kinase Deficiency 11
Agammaglobulinemia, Bruton Tyrosine Kinase 19
Bruton's Sex-Linked Agammaglobulinemia 11
Agammaglobulinemia, X-Linked, Type 1 57
X-Linked Agammaglobulinemia Type 1 73
Bruton's Type Agammaglobulinemia 11
Congenital Agammaglobulinemia 42
Bruton's Agammaglobulinaemia 11
Agammaglobulinemia, Btk 19
Immunodeficiency Type 1 73
Immunodeficiency 1 57
Bruton Disease 11
Btk Deficiency 11

Characteristics:


Inheritance:

Agammaglobulinemia, X-Linked: X-linked recessive 57
X-Linked Agammaglobulinemia: X-linked recessive 58

Prevelance:

X-Linked Agammaglobulinemia: 1-9/1000000 (Worldwide, France, Italy, Croatia, Hungary, Macedonia, the former Yugoslav Republic of, Slovenia, United States, Korea, Republic of) <1/1000000 (United Kingdom, Spain, Germany, Poland, Serbia, Ukraine, Belarus, Romania, United States) 58

Age Of Onset:

X-Linked Agammaglobulinemia: Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
susceptibility to infections start in the first year of life


Classifications:

Orphanet: 58  
Rare immunological diseases


Summaries for Agammaglobulinemia, X-Linked

MedlinePlus Genetics: 42 X-linked agammaglobulinemia (XLA) is a condition that affects the immune system and occurs almost exclusively in males. People with XLA have very few B cells, which are specialized white blood cells that help protect the body against infection. B cells can mature into the cells that produce special proteins called antibodies or immunoglobulins. Antibodies attach to specific foreign particles and germs, marking them for destruction. Individuals with XLA are more susceptible to infections because their body makes very few antibodies.Children with XLA are usually healthy for the first 1 or 2 months of life because they are protected by antibodies acquired before birth from their mother. After this time, the maternal antibodies are cleared from the body, and the affected child begins to develop recurrent infections. In children with XLA, infections generally take longer to get better and then they come back again, even with antibiotic medications. The most common bacterial infections that occur in people with XLA are lung infections (pneumonia and bronchitis), ear infections (otitis), pink eye (conjunctivitis), and sinus infections (sinusitis). Infections that cause chronic diarrhea are also common. Recurrent infections can lead to organ damage. People with XLA can develop severe, life-threatening bacterial infections; however, affected individuals are not particularly vulnerable to infections caused by viruses. With treatment to replace antibodies, infections can usually be prevented, improving the quality of life for people with XLA.

MalaCards based summary: Agammaglobulinemia, X-Linked, also known as x-linked agammaglobulinemia, is related to agammaglobulinemia, non-bruton type and agammaglobulinemia 1, autosomal recessive, and has symptoms including diarrhea An important gene associated with Agammaglobulinemia, X-Linked is BTK (Bruton Tyrosine Kinase), and among its related pathways/superpathways are Innate Immune System and Disease. The drugs Hyaluronic acid and Immunoglobulins, Intravenous have been mentioned in the context of this disorder. Affiliated tissues include b cells, bone marrow and lung, and related phenotypes are failure to thrive and chronic otitis media

GARD: 19 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 in the BTK gene and is inherited in an X-linked recessive manner.

UniProtKB/Swiss-Prot: 73 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.

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 08-Dec-2022)

Disease Ontology: 11 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.

Orphanet: 58 A clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, characterized in affected males by recurrent bacterial infections during infancy.

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 876)
# Related Disease Score Top Affiliating Genes
1 agammaglobulinemia, non-bruton type 32.5 IGHM BLNK
2 agammaglobulinemia 1, autosomal recessive 32.0 IGHM BTK
3 pyoderma 30.9 PLCG2 CCR6 BTK
4 hemophagocytic lymphohistiocytosis 30.3 ITK CD19 CCR6
5 immune deficiency disease 30.3 WAS TEC SYK ICOSLG CD40 CCR6
6 exanthem 30.2 ICOSLG CD19 CCR6
7 transient hypogammaglobulinemia of infancy 30.2 CD19 BTK
8 transient hypogammaglobulinemia 30.2 CD19 BTK
9 pneumocystosis 30.1 CD19 CCR6 BTK
10 common variable immunodeficiency 30.1 ICOSLG CD40 CD19 BTK
11 progressive multifocal leukoencephalopathy 30.1 ICOSLG CD19 CCR6
12 macroglobulinemia 30.0 SYK CD40 BTK BLNK
13 dermatitis, atopic 30.0 TXK SYK ICOSLG CD40 CCR6
14 b-lymphoblastic leukemia/lymphoma 29.9 CD19 CCR6 BCR
15 severe combined immunodeficiency 29.9 WAS ICOSLG CD40 CD19 CCR6
16 lambda 5 deficiency 29.9 BTK BLNK
17 thrombocytopenia 29.9 WAS SYK SRC PLCG2 LYN ITK
18 sjogren syndrome 29.9 ICOSLG CD40 CCR6
19 wiskott-aldrich syndrome 29.9 WAS TEC SYK SRC PLEK BTK
20 thrombocytopenia due to platelet alloimmunization 29.8 SYK ICOSLG CD19 CCR6
21 pfeiffer syndrome 29.8 CD40 CD19 CCR6
22 cryoglobulinemia, familial mixed 29.8 IGHM BCR
23 immunodeficiency with hyper-igm, type 1 29.8 ICOSLG CD40 CD19 CCR6 BTK
24 cd40 ligand deficiency 29.8 ICOSLG CD40 CD19 BTK
25 t cell deficiency 29.8 ICOSLG CD19 CCR6
26 celiac disease 1 29.8 ICOSLG CD40 CD19 CCR6
27 lymphopenia 29.8 ITK CCR6 BTK
28 lymphoma 29.7 SYK ITK CD40 CD19 CCR6
29 congenital hypogammaglobulinemia 29.7 CD19 BTK BLNK
30 lymphoplasmacytic lymphoma 29.7 PLCG2 CD19 BTK
31 langerhans cell histiocytosis 29.7 ICOSLG CD40 CCR6
32 spinal cord disease 29.7 ICOSLG CD19 CCR6
33 immunoglobulin alpha deficiency 29.6 ICOSLG CD19 CCR6
34 autoimmune lymphoproliferative syndrome 29.6 ITK ICOSLG CD19 CCR6
35 omenn syndrome 29.6 WAS ICOSLG CD19 CCR6 BTK
36 myeloma, multiple 29.6 LYN ICOSLG CD40 CD19 CCR6
37 agammaglobulinemia 29.6 TXK TEC SRC PLEK ITK IGHM
38 fungal infectious disease 29.6 SYK ICOSLG CCR6
39 diffuse large b-cell lymphoma 29.6 ICOSLG CD19 CCR6 BTK
40 anemia, autoimmune hemolytic 29.5 ICOSLG CD19 CCR6 BTK
41 monoclonal gammopathy of uncertain significance 29.5 ICOSLG CD19 CCR6
42 b-cell lymphoma 29.5 SYK PLCG2 CD40 BTK BCR
43 peripheral t-cell lymphoma 29.5 SYK ITK ICOSLG CCR6
44 waldenstroem's macroglobulinemia 29.5 PLCG2 ITK IGHM CD40 CD19 BTK
45 leukemia, chronic myeloid 29.4 SRC LYN ICOSLG CD19 CCR6 BCR
46 t-cell acute lymphoblastic leukemia 29.3 SYK LYN ICOSLG CD40 CCR6
47 lymphoma, mucosa-associated lymphoid type 29.3 ICOSLG CD40 CD19 CCR6 BTK
48 b cell deficiency 29.3 PLCG2 ITK ICOSLG CD40 CD19 CCR6
49 leukemia, acute lymphoblastic 29.3 SYK LYN ICOSLG CD40 CD19 CCR6
50 asthma 29.1 SYK SRC LYN ITK ICOSLG CD40

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


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

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



Diseases related to Agammaglobulinemia, X-Linked

Symptoms & Phenotypes for Agammaglobulinemia, X-Linked

Human phenotypes related to Agammaglobulinemia, X-Linked:

58 30 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001508
2 chronic otitis media 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000389
3 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004322
4 fatigue 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012378
5 fever 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001945
6 immunodeficiency 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002721
7 sinusitis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000246
8 skin ulcer 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0200042
9 abnormality of the tonsils 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100765
10 glossoptosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000162
11 conjunctivitis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000509
12 skin rash 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000988
13 chronic diarrhea 58 30 Very rare (1%) Very frequent (99-80%)
HP:0002028
14 agammaglobulinemia 58 30 Very rare (1%) Very frequent (99-80%)
HP:0004432
15 recurrent pneumonia 58 30 Very rare (1%) Very frequent (99-80%)
HP:0006532
16 recurrent cutaneous abscess formation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100838
17 arthritis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001369
18 sensorineural hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000407
19 cellulitis 58 30 Frequent (33%) Frequent (79-30%)
HP:0100658
20 hypocalcemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002901
21 meningitis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001287
22 neutropenia 58 30 Very rare (1%) Frequent (79-30%)
HP:0001875
23 sepsis 58 30 Very rare (1%) Frequent (79-30%)
HP:0100806
24 malabsorption 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002024
25 anemia 58 30 Very rare (1%) Occasional (29-5%)
HP:0001903
26 hepatitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012115
27 alopecia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001596
28 autoimmunity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002960
29 thrombocytopenia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001873
30 neoplasm 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002664
31 hypopigmented skin patches 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001053
32 weight loss 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001824
33 osteomyelitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002754
34 recurrent otitis media 30 Very rare (1%) HP:0000403
35 bronchiectasis 30 Very rare (1%) HP:0002110
36 decreased circulating iga level 30 Very rare (1%) HP:0002720
37 decreased circulating igg level 30 Very rare (1%) HP:0004315
38 decreased circulating total igm 30 Very rare (1%) HP:0002850
39 hepatocellular carcinoma 30 Very rare (1%) HP:0001402
40 recurrent sinusitis 30 Very rare (1%) HP:0011108
41 b lymphocytopenia 30 Very rare (1%) HP:0010976
42 wheezing 30 Very rare (1%) HP:0030828
43 bronchiolitis obliterans 30 Very rare (1%) HP:0011946
44 complete or near-complete absence of specific antibody response to haemophilus influenzae type b (hib) vaccine 30 Very rare (1%) HP:0410303
45 decreased circulating ige 30 Very rare (1%) HP:0005479
46 hearing impairment 30 HP:0000365
47 delayed speech and language development 30 HP:0000750
48 abnormality of the lymphatic system 58 Very frequent (99-80%)
49 recurrent urinary tract infections 30 HP:0000010
50 abnormal lung morphology 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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

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

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

Genitourinary Kidneys:
urinary tract infections

Neoplasia:
increased incidence of rectosigmoid cancer

Clinical features from OMIM®:

300755 (Updated 08-Dec-2022)

UMLS symptoms related to Agammaglobulinemia, X-Linked:


diarrhea

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

25 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 11.04 SYK PLCG2 BCR
2 Decreased viability GR00055-A-2 11.04 SYK PLCG2 BCR
3 Decreased viability GR00154-A 11.04 BTK
4 Decreased viability GR00221-A-1 11.04 BTK SYK TXK BMX PLCG2
5 Decreased viability GR00221-A-2 11.04 BTK SYK TXK BCR
6 Decreased viability GR00221-A-3 11.04 BTK LYN SYK TXK
7 Decreased viability GR00221-A-4 11.04 BTK TXK BMX BCR ITK
8 Decreased viability GR00249-S 11.04 SYK BMX PLCG2 BCR ITK
9 Decreased viability GR00301-A 11.04 BTK BCR ITK SRC TEC
10 Decreased viability GR00342-S-3 11.04 BMX BCR
11 Decreased viability GR00381-A-1 11.04 TXK
12 Decreased viability GR00386-A-1 11.04 SYK PLCG2
13 Decreased viability GR00402-S-2 11.04 SYK BCR TEC
14 Increased cell migration GR00055-A-1 9.62 ITK
15 Increased cell migration GR00055-A-3 9.62 ITK
16 Decreased viability in HMC1.1 cells GR00105-A-0 9.43 ITK LYN SRC
17 Increased viability GR00342-S-1 9.43 ITK LYN
18 Increased viability GR00342-S-2 9.43 ITK LYN
19 Increased viability GR00342-S-3 9.43 ITK LYN
20 Increased cell viability after pRB stimulation GR00230-A-1 9.33 BTK TEC TXK
21 Increased simian virus 40 (SV40) infection GR00356-A-2 8.62 TEC TXK

MGI Mouse Phenotypes related to Agammaglobulinemia, X-Linked:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10 BCR BTK CCR6 CD19 CD40 ICOSLG
2 immune system MP:0005387 9.89 BCR BLNK BMX BTK CCR6 CD19
3 neoplasm MP:0002006 9.87 BLNK BTK CD19 IGHM PLCG2 SRC
4 renal/urinary system MP:0005367 9.86 BCR CD19 CD40 IGHM LYN PLCG2
5 hematopoietic system MP:0005397 9.55 BCR BLNK BTK CCR6 CD19 CD40

Drugs & Therapeutics for Agammaglobulinemia, X-Linked

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

(show top 50) (show all 77)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
2 Immunoglobulins, Intravenous Phase 4
3 Immunoglobulins Phase 4
4 Antibodies Phase 4
5 gamma-Globulins Phase 4
6 Rho(D) Immune Globulin Phase 4
7 Immunologic Factors Phase 4
8 Protective Agents Phase 4
9 Adjuvants, Immunologic Phase 4
10 Immunoglobulin G Phase 4
11 Viscosupplements Phase 4
12
Plerixafor Approved Phase 2, Phase 3 110078-46-1 65015
13 Anti-Infective Agents Phase 2, Phase 3
14 Antiviral Agents Phase 2, Phase 3
15 Anti-Retroviral Agents Phase 2, Phase 3
16 Anti-HIV Agents Phase 2, Phase 3
17
Peginterferon alfa-2a Approved, Investigational Phase 2 198153-51-4
18
Ofatumumab Approved Phase 2 679818-59-8
19
Melphalan Approved Phase 2 148-82-3 4053 460612
20
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751 657237
21
Alemtuzumab Approved, Investigational Phase 2 216503-57-0
22
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
23
Lenalidomide Approved Phase 2 191732-72-6 216326
24 Interferon alpha-2 Phase 2
25 interferons Phase 2
26 Interferon-alpha Phase 2
27 Pharmaceutical Solutions Phase 2
28 Antibodies, Monoclonal Phase 2
29 Alkylating Agents Phase 2
30 Antineoplastic Agents, Alkylating Phase 2
31 Immunosuppressive Agents Phase 2
32 Antineoplastic Agents, Immunological Phase 2
33 Vaccines Phase 2
34 Angiogenesis Inhibitors Phase 2
35 Heptavalent Pneumococcal Conjugate Vaccine Phase 2
36
Rituximab Approved 174722-31-7
37
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
38
Tannic acid Approved 1401-55-4 16129878 16129778
39
Busulfan Approved, Investigational 55-98-1 2478
40
Etoposide Approved 33419-42-0 36462
41
Prednisolone phosphate Approved, Vet_approved 302-25-0
42
Prednisolone acetate Approved, Vet_approved 52-21-1
43
Prednisolone Approved, Vet_approved 50-24-8 4894 5755
44
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
45
Prednisone Approved, Vet_approved 53-03-2 5865
46
Methylprednisolone hemisuccinate Approved 2921-57-5 1875
47
Levoleucovorin Approved, Experimental, Investigational 68538-85-2, 58-05-9, 73951-54-9 149436 6006
48
Methylprednisolone Approved, Vet_approved 83-43-2 4159 6741
49
Methotrexate Approved 1959-05-2, 59-05-2 4112 126941
50
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189

Interventional clinical trials:

(show all 37)
# 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 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
5 A Phase III, Multicenter, Open-Label Study To Evaluate The Efficacy, Safety, and Pharmacokinetics of Gammaplex® in Primary Immunodeficiency Diseases Completed NCT00278954 Phase 3
6 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
7 Does Replacement With CMVIG in Hypogammaglobulinemic Patients Decrease the Rate of Opportunistic Infections and Chronic Rejection? Completed NCT00137748 Phase 2, Phase 3 CMV-Ig
8 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
9 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
10 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)
11 A Multicenter Study on the Efficacy, Safety and Pharmacokinetics of IgPro10 in Patients With Primary Immunodeficiency (PID) Completed NCT00168025 Phase 3 Immunoglobulins Intravenous (Human)
12 A Multicenter Extension Study on the Safety and Efficacy of IgPro10 in Patients With Primary Immunodeficiency (PID) Completed NCT00322556 Phase 3 Immunoglobulins Intravenous (Human)
13 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
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 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 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
17 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
18 Combination of Lenalidomide and Ofatumumab in Patients With Previously Treated Chronic Lymphocytic Leukemia and Small Lymphocytic Lymphoma (CLL/SLL) Completed NCT01002755 Phase 2 Lenalidomide
19 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)
20 IVIG for Acquired Immunodeficiency in Lung Transplant Patients Completed NCT00115778 Phase 2 IVIG
21 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
22 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
23 Mutation of the BTK Gene and Genotype-phenotype Correlation of Chinese Patients With X-Linked Agammaglobulinemia Unknown status NCT02234791
24 Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders Unknown status NCT00004341
25 Hypogammaglobulinemia and Immunization Responses to Measles in Rituximab-treated Multiple Sclerosis Patients Unknown status NCT04283747
26 Investigation of Molecular, Genetic and Cellular Mechanisms of Human Immune Disorders and Deficiencies Unknown status NCT01981785
27 Analysis of Medical Therapy and History as Risks of Immunodeficiency in Multiple Sclerosis Patients Unknown status NCT04447937
28 Intravenous Immunoglobulin for Early Prevention of Cardiopulmonary Bypass Induced Hypogammaglobulinemia in Infants and Neonates Completed NCT02043379 IVIG
29 A Pilot Study to Assess Tolerability of Subcutaneous Immunoglobulin Treatment (Hizentra) in Patients Undergoing Allogeneic Hematopoietic Cell Transplantation Completed NCT03401268 subcutaneous immunoglobulin
30 Personalized Immunotherapeutic for Antibiotic-resistant Infection Completed NCT02508584 Early Phase 1
31 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
32 Vaccine-induced SARS-CoV-2-specific T Cell Responses in Patients With Primary Immune Deficiency Disease Recruiting NCT05321407
33 Immunoglobulin Deficiency a Treatable Cause of Fatigue in Patients With Multiple Sclerosis (MS)? - A Prospective Observational Fatigue Trial Recruiting NCT05357781
34 Sequential Transplantation of Umbilical Cord Blood Stem Cells and Islet Cells in Children and Adolescents With Monogenic Immunodeficiency Type 1 Diabetes Mellitus Recruiting NCT03835312
35 Assessment of Immunogenicity of Zostavax® in Patients With Antibody Deficiency 60 Years of Age and Older Terminated NCT02960399
36 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;methotrexate;methylprednisolone;prednisone
37 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

Genetic Tests for Agammaglobulinemia, X-Linked

Genetic tests related to Agammaglobulinemia, X-Linked:

# Genetic test Affiliating Genes
1 X-Linked Agammaglobulinemia 28 BTK

Anatomical Context for Agammaglobulinemia, X-Linked

Organs/tissues related to Agammaglobulinemia, X-Linked:

MalaCards : B Cells, Bone Marrow, Lung, Skin, Bone, Eye, Lymph Node
ODiseA: Respiratory System-Lung, Respiratory System

Publications for Agammaglobulinemia, X-Linked

Articles related to Agammaglobulinemia, X-Linked:

(show top 50) (show all 5285)
# Title Authors PMID Year
1
Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study. 53 62 24 5
12217331 2002
2
Mutations in btk in patients with presumed X-linked agammaglobulinemia. 53 62 24 5
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. 53 62 24 5
9445504 1998
4
Mutations of the Igbeta gene cause agammaglobulinemia in man. 62 24 57
17709424 2007
5
Genetic analysis of patients with defects in early B-cell development. 62 24 5
15661032 2005
6
Clinical and molecular analysis of patients with defects in micro heavy chain gene. 62 24 57
12370281 2002
7
A mutation in Bruton's tyrosine kinase as a cause of selective anti-polysaccharide antibody deficiency. 57 5
11445810 2001
8
Maternal germinal mosaicism of X-linked agammaglobulinemia. 62 24 57
11241495 2001
9
X-linked agammaglobulinemia. A clinical and molecular analysis. 62 24 57
8982147 1996
10
The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. 57 5
8380905 1993
11
X-linked agammaglobulinemia: an analysis of 96 patients. 62 24 57
2581110 1985
12
Characterization of Bruton's tyrosine kinase mutations in Mexican patients with X-linked agammaglobulinemia. 53 62 5
17765309 2008
13
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. 53 62 5
12768435 2003
14
XLA patients with BTK splice-site mutations produce low levels of wild-type BTK transcripts. 53 62 5
12405164 2002
15
Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia. 53 62 5
12204007 2002
16
Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis. 53 62 5
11742281 2001
17
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. 53 62 5
11564824 2001
18
BTK mutations in patients with X-linked agammaglobulinemia: lack of correlation between presence of peripheral B lymphocytes and specific mutations. 53 62 5
11102984 2000
19
Stability and peptide binding specificity of Btk SH2 domain: molecular basis for X-linked agammaglobulinemia. 53 62 5
11206059 2000
20
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. 53 62 5
10887125 2000
21
Bruton's tyrosine kinase mutations in 8 Chinese families with X-linked agammaglobulinemia. 53 62 5
10737994 2000
22
Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene. 53 62 5
10678660 2000
23
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. 53 62 5
8695804 1996
24
BTKbase, mutation database for X-linked agammaglobulinemia (XLA). 53 62 5
8594569 1996
25
The spectrum of mutations in Btk that cause X-linked agammaglobulinemia. 53 62 5
7554467 1995
26
Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia. 53 62 5
7880320 1994
27
Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families. 53 62 5
7849721 1994
28
Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase. 53 62 5
7849697 1994
29
Brief report: a point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia. 53 62 5
8164701 1994
30
Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis. 53 62 5
8162056 1994
31
Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort. 62 5
30240888 2019
32
Clinical and genetic profiles of patients with X-linked agammaglobulinemia from southeast Turkey: Novel mutations in BTK gene. 62 5
30072168 2019
33
Predominantly Antibody-Deficient Patients With Non-infectious Complications Have Reduced Naive B, Treg, Th17, and Tfh17 Cells. 62 5
31803177 2019
34
Clinical and genetic features of the patients with X-Linked agammaglobulinemia from Turkey: Single-centre experience. 62 5
29424453 2018
35
Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000-2015). 62 5
27512878 2016
36
Loss of B Cells in Patients with Heterozygous Mutations in IKAROS. 62 5
26981933 2016
37
Clinical characteristics and outcomes of primary antibody deficiency: a 20-year follow-up study. 62 5
24820629 2014
38
[Mutation analysis and prenatal diagnosis in families of X-linked agammaglobulinemia caused by BTK gene mutation]. 62 5
25142992 2014
39
Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia. 62 5
19904586 2010
40
Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: a cohort study. 62 5
19419768 2009
41
Mutation of the BTK gene and clinical feature of X-linked agammaglobulinemia in mainland China. 62 5
19039656 2009
42
X-linked agammaglobulinemia diagnosed late in life: case report and review of the literature. 62 5
18518992 2008
43
Molecular analysis of the pre-BCR complex in a large cohort of patients affected by autosomal-recessive agammaglobulinemia. 53 62 24
17410177 2007
44
[A retrospective study of one case of X-linked agammaglobulinemia]. 62 5
17327079 2006
45
X-linked agammaglobulinemia: report on a United States registry of 201 patients. 53 62 24
16862044 2006
46
Identification of Bruton tyrosine kinase mutations in 12 Chinese patients with X-linked agammaglobulinaemia by long PCR-direct sequencing. 62 5
16712653 2006
47
Bruton's tyrosine kinase is not essential for LPS-induced activation of human monocytes. 62 5
16751014 2006
48
Severe neutropenia in Japanese patients with x-linked agammaglobulinemia. 62 5
16160918 2005
49
[Gene diagnosis of X-linked agammaglobulinemia]. 62 5
16053733 2005
50
BTK: 22 novel and 25 recurrent mutations in European patients with X-linked agammaglobulinemia. 62 5
14974089 2004

Variations for Agammaglobulinemia, X-Linked

ClinVar genetic disease variations for Agammaglobulinemia, X-Linked:

5 (show top 50) (show all 126)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BTK NM_000061.3(BTK):c.1288A>G (p.Lys430Glu) SNV Pathogenic
11343 rs128620184 GRCh37: X:100611833-100611833
GRCh38: X:101356845-101356845
2 BTK NM_000061.3(BTK):c.37C>T (p.Arg13Ter) SNV Pathogenic
11344 rs128620187 GRCh37: X:100630236-100630236
GRCh38: X:101375248-101375248
3 BTK NM_000061.3(BTK):c.43C>T (p.Gln15Ter) SNV Pathogenic
11345 rs128620188 GRCh37: X:100630230-100630230
GRCh38: X:101375242-101375242
4 BTK NM_000061.3(BTK):c.1082A>G (p.Tyr361Cys) SNV Pathogenic
11346 rs28935478 GRCh37: X:100613318-100613318
GRCh38: X:101358330-101358330
5 BTK NM_000061.3(BTK):c.2T>C (p.Met1Thr) SNV Pathogenic
11349 rs128620186 GRCh37: X:100630271-100630271
GRCh38: X:101375283-101375283
6 BTK NM_000061.3(BTK):c.97A>C (p.Thr33Pro) SNV Pathogenic
11351 rs128620189 GRCh37: X:100630176-100630176
GRCh38: X:101375188-101375188
7 BTK NM_000061.3(BTK):c.228_231del (p.Glu76fs) DEL Pathogenic
11352 rs864321660 GRCh37: X:100629533-100629536
GRCh38: X:101374545-101374548
8 BTK NM_000061.3(BTK):c.141+3_141+4del DEL Pathogenic
11353 rs864321661 GRCh37: X:100630128-100630129
GRCh38: X:101375140-101375141
9 BTK NM_000061.3(BTK):c.310-1G>C SNV Pathogenic
11354 rs864321662 GRCh37: X:100625068-100625068
GRCh38: X:101370080-101370080
10 BTK NM_000061.3(BTK):c.310-2A>G SNV Pathogenic
11355 rs864321663 GRCh37: X:100625069-100625069
GRCh38: X:101370081-101370081
11 BTK NM_000061.3(BTK):c.338T>A (p.Val113Asp) SNV Pathogenic
11356 rs128621190 GRCh37: X:100625039-100625039
GRCh38: X:101370051-101370051
12 BTK NM_000061.3(BTK):c.389del (p.Asn130fs) DEL Pathogenic
11357 rs864321664 GRCh37: X:100624988-100624988
GRCh38: X:101370000-101370000
13 BTK NM_000061.3(BTK):c.588_589insCTACATAG (p.Ile197fs) INSERT Pathogenic
11359 rs1569293253 GRCh37: X:100617160-100617161
GRCh38: X:101362172-101362173
14 BTK NM_000061.3(BTK):c.653del (p.Lys218fs) DEL Pathogenic
11360 rs1569292813 GRCh37: X:100615679-100615679
GRCh38: X:101360691-101360691
15 BTK NM_000061.3(BTK):c.718G>T (p.Glu240Ter) SNV Pathogenic
11361 rs128621191 GRCh37: X:100615614-100615614
GRCh38: X:101360626-101360626
16 BTK NM_000061.3(BTK):c.755G>A (p.Trp252Ter) SNV Pathogenic
11362 rs128621192 GRCh37: X:100615577-100615577
GRCh38: X:101360589-101360589
17 BTK NM_000061.3(BTK):c.839+1G>A SNV Pathogenic
11364 rs1569292649 GRCh37: X:100615075-100615075
GRCh38: X:101360087-101360087
18 BTK NM_000061.3(BTK):c.919A>G (p.Arg307Gly) SNV Pathogenic
11367 rs128621195 GRCh37: X:100613660-100613660
GRCh38: X:101358672-101358672
19 BTK NM_000061.3(BTK):c.1001A>C (p.Tyr334Ser) SNV Pathogenic
11368 rs128621196 GRCh37: X:100613399-100613399
GRCh38: X:101358411-101358411
20 BTK NM_000061.3(BTK):c.1223T>C (p.Leu408Pro) SNV Pathogenic
11373 rs128621198 GRCh37: X:100611898-100611898
GRCh38: X:101356910-101356910
21 BTK NM_000061.3(BTK):c.1275C>A (p.Tyr425Ter) SNV Pathogenic
11374 rs128621199 GRCh37: X:100611846-100611846
GRCh38: X:101356858-101356858
22 BTK NM_000061.3(BTK):c.1506C>A (p.Cys502Ter) SNV Pathogenic
11375 rs41310709 GRCh37: X:100611100-100611100
GRCh38: X:101356112-101356112
23 BTK NM_000061.3(BTK):c.1516T>C (p.Cys506Arg) SNV Pathogenic
11376 rs128621200 GRCh37: X:100611090-100611090
GRCh38: X:101356102-101356102
24 BTK NM_000061.3(BTK):c.1631+1G>T SNV Pathogenic
11382 rs1569291215 GRCh37: X:100609617-100609617
GRCh38: X:101354629-101354629
25 BTK NM_000061.3(BTK):c.1741T>C (p.Trp581Arg) SNV Pathogenic
11384 rs128621205 GRCh37: X:100608867-100608867
GRCh38: X:101353879-101353879
26 BTK NM_000061.3(BTK):c.1766A>G (p.Glu589Gly) SNV Pathogenic
11385 rs128621206 GRCh37: X:100608324-100608324
GRCh38: X:101353336-101353336
27 BTK NM_000061.3(BTK):c.1820C>A (p.Ala607Asp) SNV Pathogenic
11387 rs128621208 GRCh37: X:100608270-100608270
GRCh38: X:101353282-101353282
28 BTK NM_000061.3(BTK):c.1889T>A (p.Met630Lys) SNV Pathogenic
11389 rs128621210 GRCh37: X:100608201-100608201
GRCh38: X:101353213-101353213
29 BTK NM_000061.3(BTK):c.1906G>T (p.Glu636Ter) SNV Pathogenic
11390 rs128622211 GRCh37: X:100608184-100608184
GRCh38: X:101353196-101353196
30 BTK NM_000061.3(BTK):c.1955T>C (p.Leu652Pro) SNV Pathogenic
11392 rs128622212 GRCh37: X:100604898-100604898
GRCh38: X:101349910-101349910
31 BTK BTK, 26-BP INS, NT2019 INSERT Pathogenic
11393 GRCh37:
GRCh38:
32 BTK NM_000061.3(BTK):c.1685G>C (p.Arg562Pro) SNV Pathogenic
11394 rs104894770 GRCh37: X:100608923-100608923
GRCh38: X:101353935-101353935
33 BTK NM_000061.3(BTK):c.642_643del (p.Ser214fs) DEL Pathogenic
11395 rs1569292818 GRCh37: X:100615689-100615690
GRCh38: X:101360701-101360702
34 BTK NM_000061.3(BTK):c.-31+5G>A SNV Pathogenic
11396 rs1131691354 GRCh37: X:100641045-100641045
GRCh38: X:101386057-101386057
35 BTK NM_000061.3(BTK):c.1455C>A (p.Tyr485Ter) SNV Pathogenic
35757 rs193922124 GRCh37: X:100611151-100611151
GRCh38: X:101356163-101356163
36 BTK NM_000061.3(BTK):c.726dup (p.Ile243fs) DUP Pathogenic
562232 rs1569292774 GRCh37: X:100615605-100615606
GRCh38: X:101360617-101360618
37 BTK NM_000061.3(BTK):c.1004T>A (p.Val335Asp) SNV Pathogenic
619022 rs1569292214 GRCh37: X:100613396-100613396
GRCh38: X:101358408-101358408
38 BTK NM_000061.3(BTK):c.655del (p.Val219fs) DEL Pathogenic
632731 rs1569292810 GRCh37: X:100615677-100615677
GRCh38: X:101360689-101360689
39 BTK NM_000061.3(BTK):c.1784dup (p.Met596fs) DUP Pathogenic
804063 rs1603001771 GRCh37: X:100608305-100608306
GRCh38: X:101353317-101353318
40 BTK NM_000061.3(BTK):c.1763G>A (p.Trp588Ter) SNV Pathogenic
645226 rs1603001805 GRCh37: X:100608327-100608327
GRCh38: X:101353339-101353339
41 BTK NM_000061.3(BTK):c.721dup (p.Tyr241fs) DUP Pathogenic
804064 rs1603008381 GRCh37: X:100615610-100615611
GRCh38: X:101360622-101360623
42 BTK NM_000061.3(BTK):c.300T>A (p.Tyr100Ter) SNV Pathogenic
973552 rs1927036604 GRCh37: X:100626630-100626630
GRCh38: X:101371642-101371642
43 BTK NM_000061.3(BTK):c.1781G>A (p.Gly594Glu) SNV Pathogenic
1175185 GRCh37: X:100608309-100608309
GRCh38: X:101353321-101353321
44 BTK NM_000061.3(BTK):c.1349+1G>A SNV Pathogenic
1012315 GRCh37: X:100611771-100611771
GRCh38: X:101356783-101356783
45 BTK NM_000061.3(BTK):c.991dup (p.Ile331fs) DUP Pathogenic
1228380 GRCh37: X:100613408-100613409
GRCh38: X:101358420-101358421
46 BTK NM_000061.3(BTK):c.895-2del DEL Pathogenic
1334133 GRCh37: X:100613686-100613686
GRCh38: X:101358698-101358698
47 BTK NM_000061.3(BTK):c.829G>T (p.Glu277Ter) SNV Pathogenic
1335900 rs868983143 GRCh37: X:100615086-100615086
GRCh38: X:101360098-101360098
48 BTK NM_000061.3(BTK):c.1792T>A (p.Tyr598Asn) SNV Pathogenic
1339547 GRCh37: X:100608298-100608298
GRCh38: X:101353310-101353310
49 BTK NM_000061.3(BTK):c.1559G>A (p.Arg520Gln) SNV Pathogenic
11378 rs128621202 GRCh37: X:100611047-100611047
GRCh38: X:101356059-101356059
50 BTK NM_000061.3(BTK):c.472_475del (p.Thr158fs) DEL Pathogenic
35761 rs193922128 GRCh37: X:100617594-100617597
GRCh38: X:101362606-101362609

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

73 (show top 50) (show all 110)
# Symbol AA change Variation ID SNP ID
1 BTK p.Leu11Pro VAR_006216 rs1603020228
2 BTK p.Lys12Arg VAR_006217
3 BTK p.Ser14Phe VAR_006218 rs1057520682
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 rs1569291237
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 rs1603001822
46 BTK p.Glu589Gly VAR_006265 rs128621206
47 BTK p.Ser592Pro VAR_006267 rs1603001783
48 BTK p.Gly594Glu VAR_006268
49 BTK p.Gly594Arg VAR_006269 rs1555977339
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 40)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.91 BLNK BTK CCR6 CD19 CD40 ICOSLG
2
Show member pathways
13.76 WAS SYK SRC PLCG2 LYN CD19
3 13.74 BCR BTK CCR6 CD19 LYN PLCG2
4
Show member pathways
13.47 WAS SYK SRC PLCG2 LYN ITK
5
Show member pathways
13.44 BLNK BTK CD19 CD40 LYN PLCG2
6
Show member pathways
13.39 WAS TXK TEC SRC PLCG2 ITK
7
Show member pathways
13.36 WAS TXK TEC SYK SRC PLCG2
8
Show member pathways
13.27 TEC SYK SRC PLCG2 LYN CD40
9
Show member pathways
13.19 WAS SYK SRC PLCG2 LYN BTK
10
Show member pathways
13.05 SYK SRC PLCG2 LYN ITK BTK
11
Show member pathways
12.9 WAS SYK SRC PLCG2 LYN ITK
12
Show member pathways
12.84 WAS SRC PLCG2 LYN ITK CCR6
13
Show member pathways
12.82 SYK SRC PLCG2 LYN IGHM BTK
14
Show member pathways
12.6 BTK LYN PLCG2 SRC SYK WAS
15
Show member pathways
12.59 SYK SRC PLCG2 BTK BLNK
16
Show member pathways
12.59 SYK PLCG2 LYN ITK IGHM ICOSLG
17 12.54 TEC SYK PLCG2 LYN ITK CD19
18
Show member pathways
12.37 SYK SRC PLCG2 LYN
19
Show member pathways
12.34 ICOSLG LYN SRC SYK
20
Show member pathways
12.34 SYK PLCG2 LYN ITK IGHM CD19
21
Show member pathways
12.33 WAS SYK LYN CD40 CD19 BTK
22
Show member pathways
12.29 TEC SYK SRC PLCG2 LYN BLNK
23
Show member pathways
12.2 CD40 ICOSLG ITK PLCG2 SYK TEC
24
Show member pathways
12.07 SYK PLCG2 LYN BTK BLNK
25
Show member pathways
11.93 TEC SRC LYN
26 11.91 SYK PLCG2 BTK BLNK
27
Show member pathways
11.88 TEC PLCG2 LYN BTK
28
Show member pathways
11.84 TEC SRC LYN
29 11.79 BCR BLNK CD19 CD40 ICOSLG SYK
30
Show member pathways
11.74 WAS PLCG2 ITK
31 11.73 TEC SYK SRC LYN ITK BTK
32
Show member pathways
11.71 SYK PLCG2 LYN
33
Show member pathways
11.7 SYK PLCG2 BTK
34
Show member pathways
11.66 SYK PLCG2 LYN
35
Show member pathways
11.59 TXK TEC SYK PLCG2 LYN ITK
36 11.55 SYK LYN BTK
37
Show member pathways
11.32 SYK PLCG2 LYN CD19 BTK BLNK
38 11.31 SYK SRC BTK BLNK
39 11.04 SYK SH3BP5 PLCG2 LYN CD19 BTK
40 10.82 SYK SRC

GO Terms for Agammaglobulinemia, X-Linked

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.91 BCR BLNK BMX BTK CCR6 CD19
2 plasma membrane GO:0005887 9.91 CCR6 CD19 CD40
3 ruffle membrane GO:0032587 9.76 SRC PLEK PLCG2 BMX
4 postsynaptic specialization, intracellular component GO:0099091 9.26 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 protein phosphorylation GO:0006468 10.34 TXK TEC SYK SRC LYN ITK
2 adaptive immune response GO:0002250 10.3 TXK TEC SYK LYN ITK IGHM
3 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 10.24 SYK SRC LYN BLNK
4 T cell receptor signaling pathway GO:0050852 10.24 ICOSLG ITK PLCG2 TEC TXK
5 integrin-mediated signaling pathway GO:0007229 10.22 TXK TEC SYK SRC PLEK
6 protein autophosphorylation GO:0046777 10.22 BMX BTK LYN SRC SYK TXK
7 calcium-mediated signaling GO:0019722 10.19 SYK PLCG2 CCR6 BTK
8 platelet activation GO:0030168 10.15 SYK SRC PLCG2 CD40
9 T cell activation GO:0042110 10.14 WAS ITK ICOSLG
10 positive regulation of interleukin-12 production GO:0032735 10.11 SYK PLCG2 CD40
11 peptidyl-tyrosine phosphorylation GO:0018108 10.11 TXK TEC SYK SRC LYN ITK
12 positive regulation of cytokine production GO:0001819 10.1 TXK SYK SRC ITK
13 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 10.08 SRC LYN CD19
14 negative regulation of inflammatory response to antigenic stimulus GO:0002862 10.06 LYN SRC SYK
15 Fc-epsilon receptor signaling pathway GO:0038095 10.06 SYK PLCG2 LYN BTK
16 B cell activation GO:0042113 10.05 ICOSLG CD40 BTK BLNK
17 Fc-gamma receptor signaling pathway involved in phagocytosis GO:0038096 10.04 SYK SRC LYN
18 phosphorylation GO:0016310 10.02 TXK TEC SYK SRC LYN ITK
19 stimulatory C-type lectin receptor signaling pathway GO:0002223 10.01 LYN PLCG2 SRC SYK
20 immune system process GO:0002376 10 BTK CD19 CD40 ICOSLG IGHM ITK
21 intracellular signal transduction GO:0035556 10 BCR BLNK BMX BTK ITK LYN
22 regulation of platelet activation GO:0010543 9.97 TXK TEC SYK
23 regulation of platelet aggregation GO:0090330 9.96 SYK LYN
24 regulation of B cell receptor signaling pathway GO:0050855 9.95 LYN CD19
25 immune response-regulating cell surface receptor signaling pathway GO:0002768 9.95 LYN CD40
26 platelet degranulation GO:0002576 9.94 PLEK LYN
27 cellular response to lipid GO:0071396 9.92 SYK PLCG2
28 cellular response to molecule of fungal origin GO:0071226 9.92 SYK BTK
29 regulation of B cell apoptotic process GO:0002902 9.91 LYN BTK
30 histamine secretion by mast cell GO:0002553 9.91 LYN BTK
31 cellular response to lectin GO:1990858 9.88 SYK PLCG2
32 B cell mediated immunity GO:0019724 9.8 CD19 CD40
33 B cell receptor signaling pathway GO:0050853 9.62 TEC SYK PLCG2 LYN ITK IGHM

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 10.45 TXK TEC SYK SRC LYN ITK
2 nucleotide binding GO:0000166 10.06 TXK TEC SYK SRC LYN ITK
3 scaffold protein binding GO:0097110 10.03 LYN PLCG2 SRC SYK
4 transferase activity GO:0016740 10.02 TXK TEC SYK SRC LYN ITK
5 protein kinase activity GO:0004672 10.02 BMX BTK ITK LYN SRC SYK
6 kinase activity GO:0016301 9.96 TXK TEC SYK SRC LYN ITK
7 SH2 domain binding GO:0042169 9.95 SYK SRC BLNK
8 protein tyrosine kinase activity GO:0004713 9.91 BCR BMX BTK ITK LYN SRC
9 phospholipase binding GO:0043274 9.85 WAS SYK SRC BTK BLNK
10 phosphorylation-dependent protein binding GO:0140031 9.76 PLCG2 LYN
11 non-membrane spanning protein tyrosine kinase activity GO:0004715 9.53 TXK TEC SYK SRC LYN ITK

Sources for Agammaglobulinemia, X-Linked

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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