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

MCID: PRM038 MIFTS: 47	Primary Agammaglobulinemia Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs Expand all tables

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Aliases & Classifications for Primary Agammaglobulinemia

MalaCards integrated aliases for Primary Agammaglobulinemia:

Name: Primary Agammaglobulinemia ²⁰

Immunoglobulin Deficiency ²⁰ ⁶ ⁷¹

Antibody Deficiency Syndrome ⁵⁴ ⁷¹

Gammaglobulin Deficiency ²⁰

Antibody Deficiency ²⁰

Antibody ¹⁷

Classifications:

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

Antibody deficiency with near-normal immunoglobulins or with hyperimmunoglobulinaemia

External causes of morbidity and mortality

Drugs, medicaments and biological substances causing adverse effects in therapeutic use

Other and unspecified vaccines and biological substances

Immunoglobulin

External Ids:

ICD10 ³² D80.6 Y59.3

EFO ¹⁷ EFO_0000264

UMLS ⁷¹ C0003257 C0745242

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Summaries for Primary Agammaglobulinemia

MalaCards based summary : Primary Agammaglobulinemia, also known as immunoglobulin deficiency, is related to immunodeficiency, common variable, 2 and common variable immunodeficiency. An important gene associated with Primary Agammaglobulinemia is SYK (Spleen Associated Tyrosine Kinase), and among its related pathways/superpathways are Innate Immune System and Akt Signaling. The drugs Mechlorethamine and Infliximab have been mentioned in the context of this disorder. Affiliated tissues include liver, prostate and t cells, and related phenotype is Reduced mammosphere formation.

Wikipedia : ⁷⁴ Hypogammaglobulinemia is a problem with the immune system in which not enough gamma globulins are... more...

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Related Diseases for Primary Agammaglobulinemia

Diseases in the Agammaglobulinemia family:

Agammaglobulinemia 1, Autosomal Recessive	Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia 2, Autosomal Recessive	Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia 4, Autosomal Recessive	Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia 8, Autosomal Dominant
Primary Agammaglobulinemia

Diseases related to Primary Agammaglobulinemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 3290)

#	Related Disease	Score	Top Affiliating Genes
1	immunodeficiency, common variable, 2	31.8	TNFRSF13C TNFRSF13B
2	common variable immunodeficiency	31.3	TNFRSF13C TNFRSF13B
3	immunoglobulin alpha deficiency	30.2	TNFRSF13C TNFRSF13B
4	agammaglobulinemia	30.1	TNFRSF13B SYK SEC61A1
5	immunodeficiency with hyper-igm, type 1	29.7	TNFRSF13C TNFRSF13B
6	cryptococcal meningitis	29.7	TNFRSF13C TNFRSF13B
7	thrombocytopenia due to platelet alloimmunization	29.6	TNFRSF13B SYK
8	selective igg deficiency disease	29.6	TNFRSF13C TNFRSF13B
9	agammaglobulinemia, x-linked	29.4	TNFRSF13C TNFRSF13B SYK
10	macroglobulinemia	29.2	TNFRSF13C TNFRSF13B SYK
11	transient hypogammaglobulinemia of infancy	29.2	TNFRSF13C TNFRSF13B
12	b cell deficiency	29.1	TNFRSF13C TNFRSF13B
13	follicular lymphoma	29.0	TNFRSF13C SYK
14	autoimmune disease	28.9	TNFRSF13C TNFRSF13B SYK
15	leukemia, chronic lymphocytic	28.9	TNFRSF13C TNFRSF13B SYK
16	thrombocytopenia	28.7	TNFRSF13C TNFRSF13B SYK
17	lymphoma, non-hodgkin, familial	28.7	TNFRSF13C TNFRSF13B SYK
18	systemic lupus erythematosus	28.3	TNFRSF13C TNFRSF13B SYK
19	autoinflammation, antibody deficiency, and immune dysregulation	11.7
20	familial cold autoinflammatory syndrome 3	11.7
21	specific antibody deficiency	11.6
22	antiphospholipid syndrome	11.5
23	immunodeficiency, common variable, 1	11.5
24	immunodeficiency, common variable, 3	11.4
25	roifman syndrome	11.4
26	warm antibody hemolytic anemia	11.4
27	immunodeficiency, common variable, 4	11.4
28	immunodeficiency, common variable, 6	11.4
29	immunodeficiency, common variable, 5	11.4
30	goodpasture syndrome	11.3
31	selective immunoglobulin deficiency disease	11.2
32	cold agglutinin disease	11.1
33	pemphigus vulgaris, familial	11.1
34	immunodeficiency-centromeric instability-facial anomalies syndrome 1	11.1
35	immunodeficiency-centromeric instability-facial anomalies syndrome 2	11.1
36	immunodeficiency 36	11.1
37	specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of b cells	11.1
38	anti-pit-1 antibody syndrome	11.1
39	myasthenia gravis	11.0
40	lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis	11.0
41	castleman disease	11.0
42	alopecia antibody deficiency	11.0
43	lichtenstein syndrome	11.0
44	pauci-immune glomerulonephritis without anca	11.0
45	antigen identified by monoclonal antibody 30.2a8	11.0
46	antigen msk41 identified by monoclonal antibody e3	11.0
47	waldenstroem's macroglobulinemia	11.0
48	b-cell expansion with nfkb and t-cell anergy	11.0
49	miller fisher syndrome	11.0
50	microscopic polyangiitis	11.0

Graphical network of the top 20 diseases related to Primary Agammaglobulinemia:

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Symptoms & Phenotypes for Primary Agammaglobulinemia

GenomeRNAi Phenotypes related to Primary Agammaglobulinemia according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Reduced mammosphere formation	GR00396-S	8.8	SYK TNFRSF13B TNFRSF13C

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Drugs & Therapeutics for Primary Agammaglobulinemia

Drugs for Primary Agammaglobulinemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 711)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Mechlorethamine

Approved, Investigational

Phase 4

51-75-2

4033

Infliximab

Approved

Phase 4

170277-31-3

Azathioprine

Approved

Phase 4

446-86-6

2265

Certoparin

Approved, Investigational

Phase 4

Levoleucovorin

Approved, Investigational

Phase 4

68538-85-2

149436

Bortezomib

Approved, Investigational

Phase 4

179324-69-7

387447 93860

Prednisolone

Approved, Vet_approved

Phase 4

50-24-8

5755

Prednisolone acetate

Approved, Vet_approved

Phase 4

52-21-1

Interferon beta-1a

Approved, Investigational

Phase 4

145258-61-3

6438354

Methylprednisolone hemisuccinate

Approved

Phase 4

2921-57-5

Prednisolone phosphate

Approved, Vet_approved

Phase 4

302-25-0

Methylprednisolone

Approved, Vet_approved

Phase 4

83-43-2

6741

Ranibizumab

Approved

Phase 4

347396-82-1

459903

Benralizumab

Approved, Investigational

Phase 4

1044511-01-4

Sulfamethoxazole

Approved

Phase 4

723-46-6

5329

Trimethoprim

Approved, Vet_approved

Phase 4

738-70-5

5578

Lactitol

Approved, Investigational

Phase 4

585-86-4

157355

Dimethyl fumarate

Approved, Investigational

Phase 4

624-49-7

637568 5271565

Zinc

Approved, Investigational

Phase 4

7440-66-6

32051

Povidone

Approved

Phase 4

9003-39-8

131751496

Hydroxychloroquine

Approved

Phase 4

118-42-3

3652

Vedolizumab

Approved

Phase 4

943609-66-3

Dalteparin

Approved

Phase 4

9005-49-6

Tinzaparin

Approved

Phase 4

9041-08-1, 9005-49-6

25244225

Empagliflozin

Approved

Phase 4

864070-44-0

Aspirin

Approved, Vet_approved

Phase 4

50-78-2

2244

Ravulizumab

Approved, Investigational

Phase 4

1803171-55-2

Digoxin

Approved

Phase 4

20830-75-5

30322 2724385

Abacavir

Approved, Investigational

Phase 4

136470-78-5

65140 441300

Lamivudine

Approved, Investigational

Phase 4

134678-17-4

60825

Dolutegravir

Approved

Phase 4

1051375-16-6

54726191

Enoxaparin

Approved

Phase 4

9005-49-6

772

Pancrelipase

Approved, Investigational

Phase 4

53608-75-6

Basiliximab

Approved, Investigational

Phase 4

179045-86-4, 152923-56-3

Cisplatin

Approved

Phase 4

15663-27-1

84093 441203 2767

Oxaliplatin

Approved, Investigational

Phase 4

61825-94-3

5310940 9887054 6857599 43805

Cytarabine

Approved, Investigational

Phase 4

147-94-4

6253

Gemcitabine

Approved

Phase 4

95058-81-4

60750

Etoposide

Approved

Phase 4

33419-42-0

36462

Vincristine

Approved, Investigational

Phase 4

2068-78-2, 57-22-7

5978

Ifosfamide

Approved

Phase 4

3778-73-2

3690

Epirubicin

Approved

Phase 4

56420-45-2

41867

Brodalumab

Approved, Investigational

Phase 4

1174395-19-7

Ixekizumab

Approved, Investigational

Phase 4

1143503-69-8

Bevacizumab

Approved, Investigational

Phase 4

216974-75-3

Cetuximab

Approved

Phase 4

205923-56-4

56842117 2333

Heparin

Approved, Investigational

Phase 4

9005-49-6

772 9812414

Warfarin

Approved

Phase 4

81-81-2

6691 54678486

Adalimumab

Approved, Experimental

Phase 4

331731-18-1

16219006

Evolocumab

Approved

Phase 4

1256937-27-5

Interventional clinical trials:

(show top 50) (show all 4352)

#	Name	Status	NCT ID	Phase	Drugs
1	Immune Modulation Therapy for ERT-naïve or ERT-treated Pompe Disease Patients	Unknown status	NCT02525172	Phase 4	Rituximab;intravenous immune globulin;Bortezomib;Methotrexate
2	The Polysaccharide Antibody Response Study: Typhim Vi Response and Allohemagglutinins Versus Pneumovax 23 Vaccine Response in the Diagnosis of Specific Polysaccharide Antibody Deficiency	Unknown status	NCT02429531	Phase 4
3	A Study Comparing the Effectiveness of Two Different Vaccination Schedules of the Combined Hepatitis A and B Vaccine(Twinrix Adult1440/20)	Unknown status	NCT00216229	Phase 4
4	A Randomised Controlled Comparison of Campath-Tacrolimus vs IL2R MoAb-Tacrolimus/MMMF in Kidney Transplantation	Unknown status	NCT00246129	Phase 4	Alemtuzumab;Daclizumab
5	Persistence of Rabies Antibody 1-5 Years After the Post-exposure Prophylaxis With Vero Cell Antirabies Vaccine and Antibody Response to a Single Booster Dose	Unknown status	NCT01173302	Phase 4
6	Non-randomized Phase-IV-study to Investigate the Efficacy of FOLFIRI in Combination With Cetuximab in the First-line Treatment of Metastatic Colorectal Cancer Including a Regular Dermal Prophylaxis to Prevent Acneiforme Follicular Exanthema	Unknown status	NCT01315990	Phase 4	FOLFIRI + Cetuximab
7	Management of Active and Established Corneal Neovascularisation to Prevent Visual Impairment	Unknown status	NCT02594423	Phase 4	Bevacizumab
8	Research of Pure Red Cell Aplasia in Patients With Chronic Kidney Disease and in Use of Epoetin Alfa Produced by Immunobiological Technology Institute (Bio-Manguinhos) From Oswaldo Cruz Foundation (Bio-Manguinhos / Fiocruz)	Unknown status	NCT02648126	Phase 4
9	Random, Open-label Multicenter, Phase IV Study Assessing the Safety and Efficacy of Two Regimens of Ranibizumab 0.5 mg in Chinese Patients With Neovascular AMD	Unknown status	NCT02810808	Phase 4	Ranibizumab
10	Immune Intervention With Anti-CD20 Monoclonal Antibody to Preserve Beta Cell Function in Early Onset Type 1 Diabetes	Unknown status	NCT01280682	Phase 4	rituximab
11	GLM Dose Optimisation to Adequate Levels to Achieve Response in Colitis (GOAL-ARC). A Nationwide Multi-centred Randomised Controlled Trial (RCT) Investigating the Use of GLM Dose Adjustment in Ulcerative Colitis (UC).	Unknown status	NCT02687724	Phase 4	Golimumab (GLM)
12	Assessment of Antibody Response of a Boosted Japanese Encephalitis Chimeric Virus Vaccine (JE-CV) in Children Previously Immunized With a Single Dose of JE-CV	Unknown status	NCT01954810	Phase 4
13	The Effects of Xolair (Omalizumab) on Airway Hyperresponsiveness	Unknown status	NCT00208234	Phase 4	Omalizumab;Placebo for Omalizumab;omalizumab
14	Rituximab (RTX) Therapy in Steroid Resistant Patients or Patients Relapsing After Intravenous Steroids With Active TAO	Unknown status	NCT02378298	Phase 4	Rituximab;Iv Methylprednisolone;peroral methylprednisolone and Methotrexate
15	Optimization of Golimumab Treatment in Ulcerative Colitis	Unknown status	NCT03669029	Phase 4	Golimumab 50 mg in patients <80 kg and Golimumab 100 mg in patients >80 kg;Golimumab treatment optimization.
16	Immunotherapy in Intractable Cryptogenic Epilepsy Patients With Autoimmune Antibody	Unknown status	NCT02695797	Phase 4	Prednisolone
17	Hepatitis B Virus (HBV) Antibody (Anti-HBs) Booster Program for the Production of Hepatitis B Immune Globulin (HBIG)	Unknown status	NCT01311674	Phase 4
18	Effect of Monoclonal Anti-IL6 Antibody (Tocilizumab) on the Cardiovascular Risk in Patients With Rheumatoid Arthritis	Unknown status	NCT01752335	Phase 4
19	A Phase IV, Single Center, Open-Label, Controlled, Randomized Study to Evaluate the Memory Response of Children Previously Vaccinated With Chiron Meningococcal C Conjugate Vaccine, Menjugate® and Describe the Kinetic of the Antibody Response and Maturation on Days 2-7 and 28 After Challenge With Pasteur Merieux Meningococcal A/C Polysaccharide Vaccine or Menjugate®	Unknown status	NCT00262015	Phase 4
20	Immunogenicity and Safety of 4- vs. 3-standard Doses HBV Vaccination in HIV-infected Adults With Isolated Anti-HBc Antibody	Unknown status	NCT03212911	Phase 4
21	A Phase 4, Randomized, Open-Label Study to Assess Humoral and Intestinal Polio Immunity Following a Three-Dose Trivalent Inactivated Polio Vaccine Schedule Relative to Two Sequential Schedules of IPV/Bivalent Oral Polio Vaccines	Unknown status	NCT01841671	Phase 4
22	Multi-center Clinical Study of Immunosuppressants, Cyclophosphamide, And Cord Blood Transfusion in Treating Patients With Severe Aplastic Anemia	Unknown status	NCT02838992	Phase 4	Rabbit ATG, (Genzyme);Cy;CsA
23	Immune Modulation Study in Patients With Metastatic Melanoma Treated With Anti-PD1 Monoclonal Antibodies	Unknown status	NCT02626065	Phase 4	Nivolumab
24	Addition of Azathioprine to the Switch of Anti-TNF Drug in IBD Patients in Clinical Relapse With Undectectable Anti-TNF Trough Levels and Anti-drug Antibodies : a Prospective Randomized Trial	Unknown status	NCT03580876	Phase 4	addition of azathioprine;Switch to a second anti-TNF drug alone
25	Randomized-Double Blind Trial to Assess the Incidence and Clinical Relevance of Heparin-Induced Thrombocytopenia (HIT) Antibodies in Trauma Patients Treated With Unfractionated or Low-Molecular Weight Heparin, the HIT-TRAP Trial	Unknown status	NCT00196417	Phase 4	Standard heparin (UFH) versus certoparin (LMWH)
26	A Randomised Trial of an Additional Measles Vaccine at 4 Months of Age to Reduce Child Mortality and to Explore the Role of Maternal Measles Antibodies for the Beneficial Non-specific Effects of Measles Vaccine	Unknown status	NCT01486355	Phase 4
27	Use of Combined Measurements of Serum Infliximab and Anti-infliximab Antibodies in the Treatment of Patients With Crohns Disease Failing Infliximab Therapy	Unknown status	NCT00851565	Phase 4
28	Evaluation of the Effects of Sirolimus Addition to the Triple Immunosuppression Protocol on Peripheral Blood Lymphocytes and Development of Anti-HLA Antibodies in Sensitized Kidney Transplant Recipients - a Pilot Study	Unknown status	NCT02208791	Phase 4	Sirolimus;No intervention
29	A Multicentre, Open Label, Non-Comparative Trial Investigating the Recovering of INF-Beta Efficacy in Breakthrough Relapsing-Remitting Multiple Sclerosis Patients With Neutralizing Interferon-Beta Antibodies	Completed	NCT00492466	Phase 4	Interferon-beta-1a;methylprednisolone
30	A Study of the Safety and Efficacy of an Intravenous Immunoglobulin (Vigam® Liquid) in Patients With Primary or Secondary Antibody Deficiency.	Completed	NCT02247154	Phase 4
31	Correlates of HBV-Specific B Cell Memory Following Vaccination in HIV-Infected Adolescents and HIV-Uninfected Adolescents: A Substudy of ATN 024 and ATN 025	Completed	NCT00142753	Phase 4
32	Short-Course Glucocorticoids and Rituximab in ANCA-Associated Vasculitis	Completed	NCT02169219	Phase 4	Glucocorticoids;Rituximab
33	The De-novo Use of Eculizumab Alongside Conventional Therapy in Presensitized Patients Receiving Cardiac Transplantation: An Open-Label, Investigator-Initiated Pilot Trial: [The DUET Cardiac Trial]	Completed	NCT02013037	Phase 4	Eculizumab
34	Rivaroxaban in Antiphospholipid Syndrome Pilot Study: A Multicenter Feasibility Study of Rivaroxaban for Patients With Antiphospholipid Syndrome and Prior Arterial or Venous Thrombosis	Completed	NCT02116036	Phase 4	Rivaroxaban
35	Non-interference and Safety of Concomitant Administration of Measles-rubella and Rotavirus Vaccines at 9 Months of Age in Rural Bangladesh	Completed	NCT01700621	Phase 4
36	A Prospective, Open-Label, Single-Arm Clinical Trial to Assess the Anti-Hepatitis A Virus (HAV) Antibody Levels, Pharmacokinetics, and Safety of a Single Intramuscular Dose of a Polyvalent Human Immune Globulin in HAV Seronegative Healthy Subjects	Completed	NCT03351933	Phase 4
37	Multicentre Double-blind Placebo-controlled Parallel-group Randomized Clinical Trial of Efficacy and Safety of Subetta in the Combined Treatment of Patients With Type II Diabetes Mellitus	Completed	NCT01868646	Phase 4	Subetta;Placebo
38	Multicentre Double-blind Placebo-controlled Parallel-group Randomized Clinical Trial of Efficacy and Safety of Subetta in the Combined Treatment of Patients With Type I Diabetes Mellitus	Completed	NCT01868594	Phase 4	Subetta;Placebo
39	An Open Multicentre, Multicountry Study to Evaluate Long-term Antibody Persistence and Immune Memory Between Years 11 and 15 After the Primary Study HAB-084 in Which Healthy Adolescents Were Vaccinated With Twinrix™ Adult Following a Two-dose Schedule or Twinrix™ Junior Following a Three-dose Schedule.	Completed	NCT00875485	Phase 4
40	Long-term Antibody Persistence of Hepatitis B Antibodies and Immune Response to a Hepatitis B Vaccine (Engerix-B Kinder) Challenge in Children Previously Vaccinated With Infanrix Hexa Vaccine	Completed	NCT01333813	Phase 4
41	Effects of the TNF-alpha Inhibiton on Blood Pressure, Hemodynamic Parameters and Biomarkers in Resistant Hypertension	Completed	NCT02743390	Phase 4
42	Pilot Study of the Safety and Efficacy of Quadrivalent Human Papillomavirus Vaccine (Gardasil®) in Female Subjects With Juvenile Idiopathic Arthritis (JIA)/ Seronegative Arthritis	Completed	NCT00573651	Phase 4
43	Duration of Immune Response to Influenza Vaccination in Patients With Rheumatoid Arthritis Receiving Treatment With Biologic Agents	Completed	NCT02311855	Phase 4
44	A Non-randomized, Open-label Study To Evaluate The Pharmacokinetics, Safety And Efficacy Of Refacto Af In Previously Treated Pediatric Subjects Less Than Twelve Years Of Age With Severe Hemophilia A (Fviii:c <1%).	Completed	NCT00914459	Phase 4
45	Sequential Natalizumab - Alemtuzumab Therapy in Patients With Relapsing Forms of Multiple Sclerosis (SUPPRESS)	Completed	NCT03135249	Phase 4	Alemtuzumab
46	AN OPEN-LABEL STUDY OF THE SAFETY AND EFFICACY OF REFACTO AF IN PREVIOUSLY UNTREATED PATIENTS IN USUAL CARE SETTINGS	Completed	NCT00950170	Phase 4
47	An Open Label, Single Group Assignment Design Study to Correlate Soluble ST2 With Clinical, Endoscopic and Histological Activity in Moderate to Severe Ulcerative Colitis Patients Under Golimumab.	Completed	NCT02318667	Phase 4
48	Educate, Test and Treat Model Towards Elimination of Hepatitis C Infection in Egypt: Feasibility and Effectiveness in 73 Villages	Completed	NCT04177043	Phase 4	DAAs
49	A Phase 4 Trial Comparing the Efficacy of Subcutaneous Injections of Brodalumab to Oral Administrations of Fumaric Acid Esters in Adults With Moderate to Severe Plaque Psoriasis	Completed	NCT03331835	Phase 4	Fumaric acid esters
50	An Open-label, Prospective, Multicenter Study to Investigate the Specificity of in Vivo Antibody Binding to Red Blood Cells in Subjects With Chronic Immune Thrombocytopenic Purpura (ITP) Treated With IgPro10 (Privigen®) Who Have Shown Signs of Hemolysis	Completed	NCT01390649	Phase 4

Search NIH Clinical Center for Primary Agammaglobulinemia

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Genetic Tests for Primary Agammaglobulinemia

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Anatomical Context for Primary Agammaglobulinemia

MalaCards organs/tissues related to Primary Agammaglobulinemia:

⁴⁰

Liver, Prostate, T Cells, Endothelial, Bone, Thyroid, Neutrophil

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Publications for Primary Agammaglobulinemia

Articles related to Primary Agammaglobulinemia:

(show top 50) (show all 343)

#	Title	Authors	PMID	Year
1	Burton's Agammaglobulinemia and COVID-19. ⁶¹	Hovey JG...Howell D	33391934	2020
2	Immunoglobulin Deficiency as an Indicator of Disease Severity in Patients with COVID-19. ⁶¹	Husain-Syed F...David S	33237794	2020
3	Immunoglobulin deficiency associated with a MAP2K1-related mutation causing cardio-facio-cutaneous syndrome. ⁶¹	Leoni C...Zampino G	32866538	2020
4	Effect of Therapeutic Plasma Exchange on Immunoglobulin Deficiency in Early and Severe Septic Shock. ⁶¹	Stahl K...David S	33063613	2020
5	Outcomes of Immunocompromised Adults Hospitalized With Laboratory-confirmed Influenza in the United States, 2011-2015. ⁶¹	Collins JP...Anderson EJ	31298691	2020
6	Recurrent Sinopulmonary Infections in a Patient Whose HIV Masked Common Variable Immunodeficiency. ⁶¹	Gollapudi D...Hunter AJ	31677106	2020
7	Presentation of a case of Bruton type primary agammaglobulinemia in Guinea. ⁶¹	Conde K...Dore M	33235662	2020
8	Clinical Features and Outcomes of Immunocompromised Children Hospitalized With Laboratory-Confirmed Influenza in the United States, 2011-2015. ⁶¹	Collins JP...Anderson EJ	30358877	2019
9	[Genetic diagnosis of patients with primary agammaglobulinemia treated at third level peruvian centers]. ⁶¹	Matos-Benavides E...Aldave-Becerra J	31967259	2019
10	A supramolecular sensor array for selective immunoglobulin deficiency analysis. ⁶¹	Liu Y...Zhong W	31495837	2019
11	Factors Beyond Lack of Antibody Govern Pulmonary Complications in Primary Antibody Deficiency. ⁶¹	Weinberger T...Maglione PJ	31089938	2019
12	Precision health: treating the individual patient with chronic obstructive pulmonary disease. ⁶¹	Obeidat M...Sin DD	30977152	2019
13	Antioxidant Defense, Redox Homeostasis, and Oxidative Damage in Children With Ataxia Telangiectasia and Nijmegen Breakage Syndrome. ⁶¹	Maciejczyk M...Mikoluc B	31611883	2019
14	The effect of omalizumab treatment on IgE and other immunoglobulin levels in patients with chronic spontaneous urticaria and its association with treatment response. ⁶¹	Cildag S...Senturk T	30429712	2018
15	Genetic screening of male patients with primary hypogammaglobulinemia can guide diagnosis and clinical management. ⁶¹	Vince N...DEFI Study Group	29709555	2018
16	Vitamin D deficiency in children with recurrent respiratory infections, with or without immunoglobulin deficiency. ⁶¹	Dabrowska-Leonik N...Mikoluc B	29128760	2018
17	Limited Innovations After More Than 65 Years of Immunoglobulin Replacement Therapy: Potential of IgA- and IgM-Enriched Formulations to Prevent Bacterial Respiratory Tract Infections. ⁶¹	Langereis JD...de Jonge MI	30190722	2018
18	Coccidioidomycosis, immunoglobulin deficiency: safety challenges with CAR T cells therapy for relapsed lymphoma. ⁶¹	Zahid U...Anwer F	29032736	2017
19	Nodular Lymphoid Hyperplasia of the Gastrointestinal Tract : a comprehensive review. ⁶¹	Elkholy S...Farag A	29560671	2017
20	BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency. ⁶¹	Afzali B...Laurence ADJ	28530713	2017
21	Mucosal-associated invariant T cells are depleted and functionally altered in patients with common variable immunodeficiency. ⁶¹	Arduini S...Doherty DG	28011187	2017
22	Terminally differentiated memory T cells are increased in patients with common variable immunodeficiency and selective IgA deficiency. ⁶¹	Nechvatalova J...Vlkova M	29204088	2017
23	Risk factors and characteristics of blood stream infections in patients with newly diagnosed multiple myeloma. ⁶¹	Huang CT...Liu CY	28056867	2017
24	Clinical and Biological Manifestation of RNF168 Deficiency in Two Polish Siblings. ⁶¹	Pietrucha B...Dork T	29255463	2017
25	Importance of neonatal immunoglobulin transfer for hippocampal development and behaviour in the newborn pig. ⁶¹	Goncharova K...Pierzynowski S	28658291	2017
26	Association between common variable immunodeficiency and collagenous infiltrative disorders of the gastrointestinal tract: A series of four patients. ⁶¹	Mandaliya R...Cohen S	27053352	2016
27	Immunoglobulin deficiency in patients with chronic rhinosinusitis: Systematic review of the literature and meta-analysis. ⁶¹	Schwitzguebel AJ...Harr T	26329513	2015
28	Seronegative Celiac Disease and Immunoglobulin Deficiency: Where to Look in the Submerged Iceberg? ⁶¹	Giorgio F...Di Leo A	26371035	2015
29	A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A. ⁶¹	Corbett MA...Field M	25612912	2015
30	[Incidental discovery of an immunoglobulin deficiency]. ⁶¹	Hungerbuhler P...Bart PA	26027206	2015
31	[Haemophilus influenzae type b meningitis in a vaccinated, immunocompetent infant with reactive arthritis]. ⁶¹	Nystrup KB...Wilms LK	25612943	2015
32	Treatment of giardiasis after nonresponse to nitroimidazole. ⁶¹	Meltzer E...Schwartz E	25271363	2014
33	The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia. ⁶¹	Meneret A...Anheim M	25122203	2014
34	Education and imaging. Gastrointestinal: Incidentally detected gastric carcinoma in patient with common variable immunoglobulin deficiency. ⁶¹	Loh KP...Mehendiratta V	24832778	2014
35	Functional antipolysaccharide immunoglobulin deficiency, recurrent pneumococcal sepsis, and hypergammaglobulinemic purpura. ⁶¹	Couch CE...Schubert MS	24607051	2014
36	Immunoglobulin deficiency in patients with Streptococcus pneumoniae or Haemophilus influenzae invasive infections. ⁶¹	Martinot M...Christmann D	24326288	2014
37	Prevention and control of haemophilus influenzae type b disease: recommendations of the advisory committee on immunization practices (ACIP). ⁶¹	Briere EC...Division of Bacterial Diseases, National Center for Immunization and Respiratory Diseases, CDC	24572654	2014
38	Phenotyping adults with non-cystic fibrosis bronchiectasis: a prospective observational cohort study. ⁶¹	Anwar GA...Rutherford RM	23672995	2013
39	Selective IgA deficiency mimicking Churg-Strauss syndrome and hypereosinophilic syndrome: a case report. ⁶¹	Takahashi N...Ban N	23544278	2013
40	Systemic atopy and immunoglobulin deficiency in Turkish patients with vernal keratoconjunctivitis. ⁶¹	Bozkurt B...Irkec M	23323578	2013
41	Utility of blood culture in uncomplicated pneumonia in children. ⁶¹	Mendoza-Paredes A...Waseem M	23641172	2013
42	Bronchiolitis obliterans syndrome, hypogammaglobulinemia, and infectious complications of lung transplantation. ⁶¹	Chambers DC...Hopkins PM	23260704	2013
43	Immunoglobulin A deficiency in celiac disease. ⁶¹	Chow MA...Green PH	22476042	2012
44	[A genetic systemic disease: clinical description of type 1 myotonic dystrophy in adults]. ⁶¹	Kaminsky P...Pruna L	22572587	2012
45	CNS infections in patients with cancer. ⁶¹	Pruitt AA	22810134	2012
46	Severe atopic dermatitis and transient hypogammaglobulinemia in children. ⁶¹	Wang AS...Schneider LC	21854413	2012
47	An 18-year-old woman with Kabuki syndrome, immunoglobulin deficiency and granulomatous lymphocytic interstitial lung disease. ⁶¹	De Dios JA...Metersky ML	22372173	2012
48	[Corynebacterium pseudodiphtheriticum causing severe pneumonia in secondary immunoglobulin deficiency]. ⁶¹	Gompelmann D...Herth FJ	22109586	2011
49	Accumulation of B1-like B cells in transgenic mice over-expressing catalytically inactive RAG1 in the periphery. ⁶¹	Hassaballa AE...Swanson PC	22044391	2011
50	Immunoglobulin deficiency in children with Hib vaccine failure. ⁶¹	Ladhani S...Heath PT	21983357	2011

Sources

Genes for Primary Agammaglobulinemia

Genes related to Primary Agammaglobulinemia (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SYK	Spleen Associated Tyrosine Kinase	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶
2	SEC61A1	SEC61 Translocon Subunit Alpha 1	Protein Coding	25	Likely pathogenic ⁶
3	TNFRSF13C	TNF Receptor Superfamily Member 13C	Protein Coding	10.15	Novoseek inferred ⁵⁴	19666484
4	TNFRSF13B	TNF Receptor Superfamily Member 13B	Protein Coding	9.91	Novoseek inferred ⁵⁴	17171762

Sources

Variations for Primary Agammaglobulinemia

ClinVar genetic disease variations for Primary Agammaglobulinemia:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	SYK	NM_003177.7(SYK):c.1649C>T (p.Ser550Phe)	SNV	Pathogenic	989386		9:93650098-93650098	9:90887816-90887816
2	SYK	NM_003177.7(SYK):c.1649C>A (p.Ser550Tyr)	SNV	Pathogenic	989389		9:93650098-93650098	9:90887816-90887816
3	SEC61A1	NM_013336.4(SEC61A1):c.254T>A (p.Val85Asp)	SNV	Likely pathogenic	549498	rs1553721236	3:127775585-127775585	3:128056742-128056742
4	SYK	NM_003177.7(SYK):c.1350G>A (p.Met450Ile)	SNV	Likely pathogenic	989237		9:93640021-93640021	9:90877739-90877739
5	SYK	NM_003177.7(SYK):c.1024C>A (p.Pro342Thr)	SNV	Likely pathogenic	989387		9:93636974-93636974	9:90874692-90874692

Sources

Expression for Primary Agammaglobulinemia

Search GEO for disease gene expression data for Primary Agammaglobulinemia.

Sources

Pathways for Primary Agammaglobulinemia

Pathways related to Primary Agammaglobulinemia according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Innate Immune System ⁶⁵ Show member pathways Immune System ⁶⁵ Neutrophil degranulation ⁶⁵	13.3	TNFRSF13C TNFRSF13B SYK SEC61A1
2	Akt Signaling ⁶³ Show member pathways p38 Signaling ⁶³ Tec Kinases Signaling ⁶³	12.76	TNFRSF13C TNFRSF13B SYK
3	Cytokine Signaling in Immune system ⁶⁵ Show member pathways Signaling by Interleukins ⁶⁵	12.65	TNFRSF13C TNFRSF13B SYK
4	NF-kappa B signaling pathway ³⁶	11.34	TNFRSF13C SYK
5	RANK Signaling in Osteoclasts ⁶³ Show member pathways Apoptosis and survival APRIL and BAFF signaling ²³ APRIL Pathway ⁶³ BAFF in B-Cell Signaling ⁶³ RANK Pathway ⁶³ RANKL/RANK (Receptor activator of NFKB (ligand)) Signaling Pathway ¹	11.2	TNFRSF13C TNFRSF13B SYK
6	TNF Superfamily Pathway: Human Ligand-Receptor Interactions and their Associated Functions ⁶⁴ Show member pathways TNFs bind their physiological receptors ⁶⁵	11.17	TNFRSF13C TNFRSF13B
7	IgA-Producing B Cells in the Intestine ⁶⁴	10.98	TNFRSF13C TNFRSF13B
8	Primary immunodeficiency ³⁶	10.54	TNFRSF13C TNFRSF13B

Sources

GO Terms for Primary Agammaglobulinemia

Biological processes related to Primary Agammaglobulinemia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	tumor necrosis factor-mediated signaling pathway	GO:0033209	9.16	TNFRSF13C TNFRSF13B
2	immune system process	GO:0002376	9.13	TNFRSF13C TNFRSF13B SYK
3	adaptive immune response	GO:0002250	8.8	TNFRSF13C TNFRSF13B SYK

Molecular functions related to Primary Agammaglobulinemia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	signaling receptor activity	GO:0038023	8.62	TNFRSF13C TNFRSF13B

Sources

Sources for Primary Agammaglobulinemia

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia