Agammaglobulinemia, X-Linked disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

XLA MCID: AGM019 MIFTS: 73	Agammaglobulinemia, X-Linked (XLA) Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Immune diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

Immunodeficiency with predominantly antibody defects

Hereditary hypogammaglobulinaemia

Orphanet: ⁵⁸

Rare immunological diseases

External Ids:

Disease Ontology ¹¹ DOID:14179

OMIM® ⁵⁷ 300755

OMIM Phenotypic Series ⁵⁷ PS300755,PS601495

MeSH ⁴³ C537409

NCIt ⁴⁹ C3822

SNOMED-CT ⁶⁸ 65880007

MESH via Orphanet ⁴⁴ C537409

ICD10 via Orphanet ³² D80.0

UMLS via Orphanet ⁷² C0221026

Orphanet ⁵⁸ ORPHA47

MedGen ⁴⁰ C0221026 C0241932

UMLS ⁷¹ C0001768 C0086438 C0221026

Sources

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

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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:

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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

Sources

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

Hyaluronic acid

Approved, Vet_approved

Phase 4

9004-61-9

53477741

Immunoglobulins, Intravenous

Phase 4

Immunoglobulins

Phase 4

Antibodies

Phase 4

gamma-Globulins

Phase 4

Rho(D) Immune Globulin

Phase 4

Immunologic Factors

Phase 4

Protective Agents

Phase 4

Adjuvants, Immunologic

Phase 4

Immunoglobulin G

Phase 4

Viscosupplements

Phase 4

Plerixafor

Approved

Phase 2, Phase 3

110078-46-1

65015

Anti-Infective Agents

Phase 2, Phase 3

Antiviral Agents

Phase 2, Phase 3

Anti-Retroviral Agents

Phase 2, Phase 3

Anti-HIV Agents

Phase 2, Phase 3

Peginterferon alfa-2a

Approved, Investigational

Phase 2

198153-51-4

Ofatumumab

Approved

Phase 2

679818-59-8

Melphalan

Approved

Phase 2

148-82-3

4053 460612

Fludarabine

Approved

Phase 2

75607-67-9, 21679-14-1

30751 657237

Alemtuzumab

Approved, Investigational

Phase 2

216503-57-0

Thiotepa

Approved, Investigational

Phase 2

52-24-4

5453

Lenalidomide

Approved

Phase 2

191732-72-6

216326

Interferon alpha-2

Phase 2

interferons

Phase 2

Interferon-alpha

Phase 2

Pharmaceutical Solutions

Phase 2

Antibodies, Monoclonal

Phase 2

Alkylating Agents

Phase 2

Antineoplastic Agents, Alkylating

Phase 2

Immunosuppressive Agents

Phase 2

Antineoplastic Agents, Immunological

Phase 2

Vaccines

Phase 2

Angiogenesis Inhibitors

Phase 2

Heptavalent Pneumococcal Conjugate Vaccine

Phase 2

Rituximab

Approved

174722-31-7

Benzocaine

Approved, Investigational

1994-09-7, 94-09-7

2337

Tannic acid

Approved

1401-55-4

16129878 16129778

Busulfan

Approved, Investigational

55-98-1

2478

Etoposide

Approved

33419-42-0

36462

Prednisolone phosphate

Approved, Vet_approved

302-25-0

Prednisolone acetate

Approved, Vet_approved

52-21-1

Prednisolone

Approved, Vet_approved

50-24-8

4894 5755

Cyclophosphamide

Approved, Investigational

50-18-0, 6055-19-2

2907

Prednisone

Approved, Vet_approved

53-03-2

5865

Methylprednisolone hemisuccinate

Approved

2921-57-5

1875

Levoleucovorin

Approved, Experimental, Investigational

68538-85-2, 58-05-9, 73951-54-9

149436 6006

Methylprednisolone

Approved, Vet_approved

83-43-2

4159 6741

Methotrexate

Approved

1959-05-2, 59-05-2

4112 126941

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

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Genetic Tests for Agammaglobulinemia, X-Linked

Genetic tests related to Agammaglobulinemia, X-Linked:

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

Sources

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

Sources

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	Plebani A...Italian Pediatric Group for XLA-AIEOP	12217331	2002
2	Mutations in btk in patients with presumed X-linked agammaglobulinemia. ⁵³ ⁶² ²⁴ ⁵	Conley ME...Rohrer J	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	Holinski-Feder E...Meindl A	9445504	1998
4	Mutations of the Igbeta gene cause agammaglobulinemia in man. ⁶² ²⁴ ⁵⁷	Ferrari S...Plebani A	17709424	2007
5	Genetic analysis of patients with defects in early B-cell development. ⁶² ²⁴ ⁵	Conley ME...Shurtleff SA	15661032	2005
6	Clinical and molecular analysis of patients with defects in micro heavy chain gene. ⁶² ²⁴ ⁵⁷	Lopez Granados E...Conley ME	12370281	2002
7	A mutation in Bruton's tyrosine kinase as a cause of selective anti-polysaccharide antibody deficiency. ⁵⁷ ⁵	Wood PM...Kumararatne DS	11445810	2001
8	Maternal germinal mosaicism of X-linked agammaglobulinemia. ⁶² ²⁴ ⁵⁷	Sakamoto M...Shinomiya N	11241495	2001
9	X-linked agammaglobulinemia. A clinical and molecular analysis. ⁶² ²⁴ ⁵⁷	Ochs HD...Smith CI	8982147	1996
10	The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. ⁵⁷ ⁵	Vetrie D...Bobrow M	8380905	1993
11	X-linked agammaglobulinemia: an analysis of 96 patients. ⁶² ²⁴ ⁵⁷	Lederman HM...Winkelstein JA	2581110	1985
12	Characterization of Bruton's tyrosine kinase mutations in Mexican patients with X-linked agammaglobulinemia. ⁵³ ⁶² ⁵	Lopez-Herrera G...Santos-Argumedo L	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	Jo EK...Miyawaki T	12768435	2003
14	XLA patients with BTK splice-site mutations produce low levels of wild-type BTK transcripts. ⁵³ ⁶² ⁵	Noordzij JG...van Dongen JJ	12405164	2002
15	Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia. ⁵³ ⁶² ⁵	Tani SM...Miyawaki T	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	Kanegane H...Miyawaki T	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	Jo EK...Miyawaki T	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	Tao L...Schwaber J	11102984	2000
19	Stability and peptide binding specificity of Btk SH2 domain: molecular basis for X-linked agammaglobulinemia. ⁵³ ⁶² ⁵	Tzeng SR...Cheng JW	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	Nomura K...Miyawaki T	10887125	2000
21	Bruton's tyrosine kinase mutations in 8 Chinese families with X-linked agammaglobulinemia. ⁵³ ⁶² ⁵	Yip KL...Lau YL	10737994	2000
22	Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene. ⁵³ ⁶² ⁵	Curtis SK...Saha BK	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	Hashimoto S...Kishimoto T	8695804	1996
24	BTKbase, mutation database for X-linked agammaglobulinemia (XLA). ⁵³ ⁶² ⁵	Vihinen M...Smith CI	8594569	1996
25	The spectrum of mutations in Btk that cause X-linked agammaglobulinemia. ⁵³ ⁶² ⁵	Conley ME...Rohrer J	7554467	1995
26	Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia. ⁵³ ⁶² ⁵	Hagemann TL...Kwan SP	7880320	1994
27	Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families. ⁵³ ⁶² ⁵	Zhu Q...Ochs HD	7849721	1994
28	Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase. ⁵³ ⁶² ⁵	Conley ME...Rohrer J	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	Saffran DC...Conley ME	8164701	1994
30	Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis. ⁵³ ⁶² ⁵	Bradley LA...Kinnon C	8162056	1994
31	Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort. ⁶² ⁵	Yazdani R...Aghamohammadi A	30240888	2019
32	Clinical and genetic profiles of patients with X-linked agammaglobulinemia from southeast Turkey: Novel mutations in BTK gene. ⁶² ⁵	Dogruel D...Bisgin A	30072168	2019
33	Predominantly Antibody-Deficient Patients With Non-infectious Complications Have Reduced Naive B, Treg, Th17, and Tfh17 Cells. ⁶² ⁵	Edwards ESJ...van Zelm MC	31803177	2019
34	Clinical and genetic features of the patients with X-Linked agammaglobulinemia from Turkey: Single-centre experience. ⁶² ⁵	Esenboga S...Tezcan I	29424453	2018
35	Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000-2015). ⁶² ⁵	Chen XF...Chen TX	27512878	2016
36	Loss of B Cells in Patients with Heterozygous Mutations in IKAROS. ⁶² ⁵	Kuehn HS...Rosenzweig SD	26981933	2016
37	Clinical characteristics and outcomes of primary antibody deficiency: a 20-year follow-up study. ⁶² ⁵	Chan HY...Chiang BL	24820629	2014
38	[Mutation analysis and prenatal diagnosis in families of X-linked agammaglobulinemia caused by BTK gene mutation]. ⁶² ⁵	Kong X...Chen M	25142992	2014
39	Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia. ⁶² ⁵	Lee PP...Lau YL	19904586	2010
40	Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: a cohort study. ⁶² ⁵	Toth B...Marodi L	19419768	2009
41	Mutation of the BTK gene and clinical feature of X-linked agammaglobulinemia in mainland China. ⁶² ⁵	Wang Y...Miyawaki T	19039656	2009
42	X-linked agammaglobulinemia diagnosed late in life: case report and review of the literature. ⁶² ⁵	Sigmon JR...Krishnaswamy G	18518992	2008
43	Molecular analysis of the pre-BCR complex in a large cohort of patients affected by autosomal-recessive agammaglobulinemia. ⁵³ ⁶² ²⁴	Ferrari S...Plebani A	17410177	2007
44	[A retrospective study of one case of X-linked agammaglobulinemia]. ⁶² ⁵	Li DX...Wang J	17327079	2006
45	X-linked agammaglobulinemia: report on a United States registry of 201 patients. ⁵³ ⁶² ²⁴	Winkelstein JA...Ochs HD	16862044	2006
46	Identification of Bruton tyrosine kinase mutations in 12 Chinese patients with X-linked agammaglobulinaemia by long PCR-direct sequencing. ⁶² ⁵	Chan KW...Lau YL	16712653	2006
47	Bruton's tyrosine kinase is not essential for LPS-induced activation of human monocytes. ⁶² ⁵	Perez de Diego R...Alemany S	16751014	2006
48	Severe neutropenia in Japanese patients with x-linked agammaglobulinemia. ⁶² ⁵	Kanegane H...Miyawaki T	16160918	2005
49	[Gene diagnosis of X-linked agammaglobulinemia]. ⁶² ⁵	Wang XC...Yu YH	16053733	2005
50	BTK: 22 novel and 25 recurrent mutations in European patients with X-linked agammaglobulinemia. ⁶² ⁵	Fiorini M...Notarangelo LD	14974089	2004

Sources

Genes for Agammaglobulinemia, X-Linked

Genes/enhancers related to Agammaglobulinemia, X-Linked (1 elite genes):

(show all 25)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	BTK	Bruton Tyrosine Kinase	Protein Coding	1704.1	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders (show sections)	2896233 4697357 7554467 (more) 7633429 7678697 7809124 7849697 7849721 7880320 8090769 8162056 8164701 8164707 8380905 8594569 8644706 8695804 9143921 9188445 9445504 9524120 9545398 9880544 10092645 10678660 10737994 10887125 11036800 11206059 11410123 11445810 11527964 11555397 11564824 11586956 11742281 11809909 12204007 12217331 12405164 12655572 12768435 14974089 15661032 16053733 16160918 16712653 16751014 17327079 17765309 18518992 19039656 19904586 21397315 25142992 25525159 27512878 29424453 30072168 30240888 31803177 10844531 11102984 17164954 19419768 24820629 26981933 20301626 17301411 18726917 7541776 7519238 9427714 8834236 7627183 8152253 15024743 12442285 10220140 8890099 16729790 8588584 20122858 7927535 8898377 7929028 7805739 11433390 12487187 10590911 9408950 9200448 8723128 7552994 7970727 18708023 16862044 9260159 8990499 8939985 8810341 7554468 7946052 8188239 7907259 8332900 19523959 17969561 17045652 17040872 11877289 9326643 9280283 8934542 7849006 7518558 8013627 8283037 8274198 9780159 9571151 9446655 18306466 17410177 17290574 17040875 15203319 12974276 11686883 10792406 10688822 10224128 9485443 9240435 8885720 7959728 11286545 11192530 10688914 10612838 10556826 9554752 9341757 8425221 19067895
1	BTK::GH0XJ101383	TSS distance: +5.5kb Elite enhancer with elite association with BTK			Curated enhancer-disease association ²³ ( 27569544)	9445504
2	BMX	BMX Non-Receptor Tyrosine Kinase	Protein Coding	17.5	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	7970727
3	ITK	IL2 Inducible T Cell Kinase	Protein Coding	17.45	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	10556826 8892607
4	TEC	Tec Protein Tyrosine Kinase	Protein Coding	17.12	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	9280283 9446655 11104803 (more) 8892607 11340625
5	PLEK	Pleckstrin	Protein Coding	16.69	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8939985 9240435 7849006 (more) 7522330 15082835
6	SH3BP5	SH3 Domain Binding Protein 5	Protein Coding	14.72	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	9571151
7	PLCG2	Phospholipase C Gamma 2	Protein Coding	14.57	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	17239630
8	SRC	SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase	Protein Coding	12.67	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	7519238 7880320
9	WAS	WASP Actin Nucleation Promoting Factor	Protein Coding	12.18	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	10590061
10	CD40	CD40 Molecule	Protein Coding	11	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	12148599
11	AGMX2	Agammaglobulinemia, X-Linked 2 (With Growth Hormone Deficiency)	Genetic Locus	8.48	GeneCards inferred via : Gene name (show sections)
12	IGHM	Immunoglobulin Heavy Constant Mu	Protein Coding	8.02	Novoseek inferred ⁵³	7486530
13	ICOSLG	Inducible T Cell Costimulator Ligand	Protein Coding	7.98	DISEASES inferred ¹⁴ ¹⁴
14	BCR	BCR Activator Of RhoGEF And GTPase	Protein Coding	7.58	Novoseek inferred ⁵³	15466623 10201980
15	TXK	TXK Tyrosine Kinase	Protein Coding	7.25	DISEASES inferred ¹⁴
16	CCR6	C-C Motif Chemokine Receptor 6	Protein Coding	7.08	DISEASES inferred ¹⁴ ¹⁴
17	SYK	Spleen Associated Tyrosine Kinase	Protein Coding	6.93	DISEASES inferred ¹⁴
18	BLNK	B Cell Linker	Protein Coding	6.92	DISEASES inferred ¹⁴
19	LYN	LYN Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	6.85	DISEASES inferred ¹⁴
20	CD19	CD19 Molecule	Protein Coding	6.84	DISEASES inferred ¹⁴
21	TNFRSF13B	TNF Receptor Superfamily Member 13B	Protein Coding	6.58	DISEASES inferred ¹⁴
22	CD40LG	CD40 Ligand	Protein Coding	6.54	DISEASES inferred ¹⁴
23	CD79B	CD79b Molecule	Protein Coding	6.39	DISEASES inferred ¹⁴
24	LRBA	LPS Responsive Beige-Like Anchor Protein	Protein Coding	6.3	DISEASES inferred ¹⁴
25	CD79A	CD79a Molecule	Protein Coding	6.26	DISEASES inferred ¹⁴

Sources

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

Sources

Expression for Agammaglobulinemia, X-Linked

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

Sources

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	Innate Immune System ⁶⁶ Show member pathways Immune System ⁶⁶ Neutrophil degranulation ⁶⁶	13.91	BLNK BTK CCR6 CD19 CD40 ICOSLG
2	Disease ⁶⁶ Show member pathways Infectious disease ⁶⁶	13.76	WAS SYK SRC PLCG2 LYN CD19
3	Signal Transduction ⁶⁶	13.74	BCR BTK CCR6 CD19 LYN PLCG2
4	Class I MHC mediated antigen processing and presentation ⁶⁶ Show member pathways Adaptive Immune System ⁶⁶ Antigen processing: Ubiquitination and Proteasome degradation ⁶⁶ Neddylation ⁶⁶	13.47	WAS SYK SRC PLCG2 LYN ITK
5	Prolactin Signaling ⁶⁴ Show member pathways Development Prolactin receptor signaling ²² EGFR Inhibitor Pathway, Pharmacodynamics ⁶⁰ EGFR tyrosine kinase inhibitor resistance ⁷⁴ ErbB Family Pathway ⁶⁴ ErbB signaling pathway ⁷⁴ ErbB2-ErbB3 Heterodimers ⁶⁴ ErbB4 Pathway ⁶⁴ Estrogen-stimulated signaling through PRKCZ ⁶⁶ Glioblastoma Multiforme ⁶⁴ Glioblastoma signaling pathways ⁷⁴ Growth Hormone Signaling ⁶⁴ HMGB1 Pathway ⁶⁴ IL-2 Pathway ⁶⁴ LPS Stimulated MAPK Signaling ⁶⁴ PACAP Signaling ⁶⁴ PI3K Signaling in B-Lymphocyte ⁶⁴ TCA cycle nutrient use and invasiveness of ovarian cancer ⁷⁴ Thrombopoietin Pathway ⁶⁴ TREM1 Pathway ⁶⁴ UVA-Induced MAPK Signaling ⁶⁴ UVB-Induced MAPK Signaling ⁶⁴ UVC-Induced MAPK Signaling ⁶⁴	13.44	BLNK BTK CD19 CD40 LYN PLCG2
6	Integrin Pathway ⁶⁴ Show member pathways FAK1 Signaling ⁶⁴ GnRH Signaling ⁶⁴ Inhibition of Angiogenesis by TSP1 ⁶⁴ Transendothelial Migration of Leukocytes ⁶⁴ UPA-UPAR Pathway ⁶⁴	13.39	WAS TXK TEC SRC PLCG2 ITK
7	Akt Signaling ⁶⁴ Show member pathways p38 Signaling ⁶⁴ Tec Kinases Signaling ⁶⁴	13.36	WAS TXK TEC SYK SRC PLCG2
8	Cytokine Signaling in Immune system ⁶⁶ Show member pathways Signaling by Interleukins ⁶⁶	13.27	TEC SYK SRC PLCG2 LYN CD40
9	ADORA2B mediated anti-inflammatory cytokines production ⁶⁶ Show member pathways Alpha-Adrenergic Signaling ⁶⁴ Androgen receptor signaling pathway ⁷⁴ Anti-inflammatory response favouring Leishmania parasite infection ⁶⁶ Beta-agonist/Beta-blocker Pathway, Pharmacodynamics ⁶⁰ CD163 mediating an anti-inflammatory response ⁶⁶ Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation ²² G alpha (z) signalling events ⁶⁶ G protein signaling pathways ⁷⁴ Glucagon signaling in metabolic regulation ⁶⁶ GPER1 signaling ⁶⁶ Hedgehog Signaling in Mammals ⁶⁴ Leishmania infection ⁶⁶ Leishmania parasite growth and survival ⁶⁶ LTC4-CYSLTR mediated IL4 production ⁶⁶ Relaxin Pathway ⁶⁴ Signal transduction cAMP signaling ²²	13.19	WAS SYK SRC PLCG2 LYN BTK
10	Phospholipase-C Pathway ⁶⁴ Show member pathways PTEN Pathway ⁶⁴	13.05	SYK SRC PLCG2 LYN ITK BTK
11	TCR Signaling (Qiagen) ⁶⁴ Show member pathways Fc-EpsilonRI Pathway ⁶⁴ ITK and TCR Signaling ⁶⁴ PDGF Pathway ⁶⁴ PKC-Theta Pathway ⁶⁴	12.9	WAS SYK SRC PLCG2 LYN ITK
12	CCR5 Pathway in Macrophages ⁶⁴ Show member pathways Androgen Signaling ⁶⁴ Chemokine Signaling ⁶⁴ Chemokine signaling pathway ⁷⁴	12.84	WAS SRC PLCG2 LYN ITK CCR6
13	Development Angiotensin activation of ERK ²² Show member pathways Cell adhesion Integrin inside-out signaling ²² Development ACM2 and ACM4 activation of ERK ²² Development Angiotensin signaling via PYK2 ²² Development EDNRB signaling ²² Development EPO-induced MAPK pathway ²² Development G-Proteins mediated regulation MARK-ERK signaling ²² Signal transduction IP3 signaling ²²	12.82	SYK SRC PLCG2 LYN IGHM BTK
14	Regulation of actin dynamics for phagocytic cup formation ⁶⁶ Show member pathways Fcgamma receptor (FCGR) dependent phagocytosis ⁶⁶ FCGR3A-mediated phagocytosis ⁶⁶ Leishmania phagocytosis ⁶⁶ Parasite infection ⁶⁶ RHO GTPases Activate WASPs and WAVEs ⁶⁶	12.6	BTK LYN PLCG2 SRC SYK WAS
15	IL-1 Family Signaling Pathways ⁶⁵ Show member pathways IL1 signaling pathway ⁶⁷ Immune response IL-1 signaling pathway ²² Interleukin-1 (IL-1) structural pathway ⁷⁴ Interleukin-33 signaling ⁶⁶ Interleukin-36 pathway ⁶⁶ Mucin expression in CF via TLRs, EGFR signaling pathways ²² Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways ⁶⁵	12.59	SYK SRC PLCG2 BTK BLNK
16	Immune response NFAT in immune response ²² Show member pathways Immune response CD28 signaling ²² Immune response ICOS pathway in T-helper cell ²² Immune response T cell receptor signaling pathway ²²	12.59	SYK PLCG2 LYN ITK IGHM ICOSLG
17	NF-kappaB Signaling ³	12.54	TEC SYK PLCG2 LYN ITK CD19
18	CLEC7A (Dectin-1) signaling ⁶⁶ Show member pathways Alternative NF-kappaB pathway ⁶¹ CLEC7A/inflammasome pathway ⁶⁶ C-type lectin receptors (CLRs) ⁶⁶	12.37	SYK SRC PLCG2 LYN
19	CD28 co-stimulation ⁶⁶ Show member pathways Activation of AKT2 ⁶⁶ CD28 dependent PI3K/Akt signaling ⁶⁶ CD28 dependent Vav1 pathway ⁶⁶ Costimulation by the CD28 family ⁶⁶ CTLA4 Signaling ⁶⁴ VEGFR2 mediated vascular permeability ⁶⁶	12.34	ICOSLG LYN SRC SYK
20	Immune response Fc epsilon RI pathway ²² Show member pathways Fc-epsilon receptor I signaling in mast cells ⁶¹ Immune response BCR pathway ²²	12.34	SYK PLCG2 LYN ITK IGHM CD19
21	B Cell Receptor Signaling Pathway ⁶⁷ Show member pathways T Cell Receptor Signaling Pathway ⁶⁷	12.33	WAS SYK LYN CD40 CD19 BTK
22	Interleukin-2 family signaling ⁶⁶ Show member pathways Interleukin receptor SHC signaling ⁶⁶ Interleukin-15 signaling ⁶⁶ Interleukin-21 signaling ⁶⁶ Interleukin-3, Interleukin-5 and GM-CSF signaling ⁶⁶ Regulation of signaling by CBL ⁶⁶ Signaling by CSF1 (M-CSF) in myeloid cells ⁶⁶	12.29	TEC SYK SRC PLCG2 LYN BLNK
23	CD28 Signaling in T-Helper Cell ⁶⁴ Show member pathways ICos-ICosL Pathway in T-Helper Cell ⁶⁴	12.2	CD40 ICOSLG ITK PLCG2 SYK TEC
24	Fc-GammaR Pathway ⁶⁴ Show member pathways Fc-Gamma-RIIB Signaling in B-Cells ⁶⁴	12.07	SYK PLCG2 LYN BTK BLNK
25	Development EPO-induced Jak-STAT pathway ²² Show member pathways EPO receptor signaling ⁷⁴ Signaling events mediated by Stem cell factor receptor (c-Kit) ⁶¹	11.93	TEC SRC LYN
26	Potential therapeutics for SARS ⁶⁶	11.91	SYK PLCG2 BTK BLNK
27	Signaling by Erythropoietin ⁶⁶ Show member pathways EPO signaling pathway ⁶¹ Erythropoietin activates Phosphoinositide-3-kinase (PI3K) ⁶⁶ Erythropoietin activates Phospholipase C gamma (PLCG) ⁶⁶ Erythropoietin activates RAS ⁶⁶ Erythropoietin activates STAT5 ⁶⁶	11.88	TEC PLCG2 LYN BTK
28	Signaling by SCF-KIT ⁶⁶ Show member pathways Regulation of KIT signaling ⁶⁶ Signaling by KIT in disease ⁶⁶ Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants ⁶⁶	11.84	TEC SRC LYN
29	Extrafollicular B cell activation by SARS-CoV-2 ⁷⁴	11.79	BCR BLNK CD19 CD40 ICOSLG SYK
30	Phosphorylation of CD3 and TCR zeta chains ⁶⁶ Show member pathways Generation of second messenger molecules ⁶⁶ PD-1 signaling ⁶⁶	11.74	WAS PLCG2 ITK
31	Tyrosine Kinases / Adaptors ³	11.73	TEC SYK SRC LYN ITK BTK
32	Microglia pathogen phagocytosis pathway ⁷⁴ Show member pathways GPVI-mediated activation cascade ⁶⁶	11.71	SYK PLCG2 LYN
33	DAP12 interactions ⁶⁶ Show member pathways DAP12 signaling ⁶⁶	11.7	SYK PLCG2 BTK
34	Termination of O-glycan biosynthesis ⁶⁶ Show member pathways Dectin-2 family ⁶⁶ Maturation of protein 3a ⁶⁶ Maturation of protein 3a ⁶⁶	11.66	SYK PLCG2 LYN
35	FCERI mediated Ca+2 mobilization ⁶⁶ Show member pathways CLEC7A (Dectin-1) induces NFAT activation ⁶⁶ FCERI mediated MAPK activation ⁶⁶	11.59	TXK TEC SYK PLCG2 LYN ITK
36	NF-kB (NFkB) Pathway ⁶⁷	11.55	SYK LYN BTK
37	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers ⁶⁶ Show member pathways B-Cell Receptor Complex ⁶⁴ CD22 mediated BCR regulation ⁶⁶	11.32	SYK PLCG2 LYN CD19 BTK BLNK
38	Class I PI3K signaling events ⁶¹	11.31	SYK SRC BTK BLNK
39	BCR signaling pathway ⁶¹	11.04	SYK SH3BP5 PLCG2 LYN CD19 BTK
40	Atypical NF-kappaB pathway ⁶¹	10.82	SYK SRC

Sources

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