Immunoglobulin Alpha Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Immunoglobulin Alpha Deficiency

MalaCards integrated aliases for Immunoglobulin Alpha Deficiency:

Name: Immunoglobulin Alpha Deficiency ¹¹ ¹⁴

Iga Deficiency ¹¹ ⁷⁵ ⁵³ ⁴³

Immunoglobulin a Deficiency ⁷¹

Gamma-a-Globulin Deficiency ¹¹

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Immune diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0060025

MeSH ⁴³ D017098

SNOMED-CT ⁶⁸ 29260007

UMLS ⁷¹ C0162538

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Summaries for Immunoglobulin Alpha Deficiency

Disease Ontology: ¹¹ A B cell deficiency that is an autosomal recessive disorder that has material basis in mutation in the IgA (CD79 alpha) antigen receptor.

MalaCards based summary: Immunoglobulin Alpha Deficiency, also known as iga deficiency, is related to primary agammaglobulinemia and immunoglobulin g deficiency. An important gene associated with Immunoglobulin Alpha Deficiency is TNFRSF13B (TNF Receptor Superfamily Member 13B), and among its related pathways/superpathways are Akt Signaling and PAK Pathway. The drug Immunoglobulin A has been mentioned in the context of this disorder. Affiliated tissues include bone marrow, t cells and b cells, and related phenotypes are Reduced mammosphere formation and homeostasis/metabolism

Wikipedia: ⁷⁵ Selective immunoglobulin A (IgA) deficiency (SIgAD) is a genetic immunodeficiency, a type of... more...

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Related Diseases for Immunoglobulin Alpha Deficiency

Diseases related to Immunoglobulin Alpha Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 630)

#	Related Disease	Score	Top Affiliating Genes
1	primary agammaglobulinemia	31.3	TNFRSF13C TNFRSF13B
2	immunoglobulin g deficiency	31.1	MBL2 CD79A CD40LG
3	glomerulonephritis	31.0	MBL2 CD79A CD40LG C4A
4	agammaglobulinemia	30.9	ICOSLG CD79A CD40LG CD19
5	thrombocytopenic purpura, autoimmune	30.8	ICOSLG CD4 CCR6
6	lupus erythematosus	30.8	TNFRSF13C CD40LG CCR6 C4A
7	thyroiditis	30.7	TNFRSF25 HLA-DQB1 HLA-DQA1
8	agammaglobulinemia, x-linked	30.6	TNFRSF13B ICOSLG CD79A CD40LG CD19 CCR6
9	vitiligo-associated multiple autoimmune disease susceptibility 1	30.6	ICOSLG CD4 CCR6
10	sarcoidosis 1	30.6	ICOSLG HLA-DQB1 CD4 CCR6
11	pernicious anemia	30.6	TOR1A TNFRSF25 ICOSLG CD4 CCR6
12	spondyloarthropathy 1	30.5	ICOSLG HP CD79A CD40LG CD4 CCR6
13	juvenile rheumatoid arthritis	30.4	ICOSLG HP HLA-DQB1 HLA-DQA1 CD4 CCR6
14	immune deficiency disease	30.4	TNFSF13B TNFRSF13B MBL2 ICOSLG HLA-DQB1 CD79A
15	vasculitis	30.4	TNFSF13B MBL2 CD79A CD40LG
16	sjogren syndrome	30.4	TNFSF13B ICOSLG CD79A CD40LG CCR6
17	giardiasis	30.4	TOR1A TGM2 CD79A CD4
18	membranous nephropathy	30.4	MBL2 HP HLA-DQA1 CD79A
19	hashimoto thyroiditis	30.4	TNFRSF25 ICOSLG CD4 CCR6
20	deficiency anemia	30.4	TOR1A ICOSLG HP CD4 CD19 CCR6
21	chickenpox	30.4	CD4 CD19 CCR6
22	viral infectious disease	30.3	MBL2 ICOSLG CD40LG CD4 CCR6
23	immunodeficiency, common variable, 2	30.3	TNFRSF13C TNFRSF13B CD19
24	thrombocytopenia due to platelet alloimmunization	30.3	TNFSF13B TNFRSF13B ICOSLG CD4 CD19 CCR6
25	systemic scleroderma	30.3	TNFSF13B ICOSLG CD4 CD19 CCR6
26	transient hypogammaglobulinemia of infancy	30.3	TNFRSF13C TNFRSF13B CD40LG CD19
27	chronic mucocutaneous candidiasis	30.3	ICOSLG CD4 CCR6
28	transient hypogammaglobulinemia	30.3	TNFRSF13C TNFRSF13B CD40LG CD19
29	thymic dysplasia	30.3	ICOSLG CD4
30	membranoproliferative glomerulonephritis	30.3	MBL2 CD79A C4A
31	common variable immunodeficiency	30.3	TNFSF13B TNFRSF13C TNFRSF13B MBL2 ICOSLG HLA-DQB1
32	reactive arthritis	30.3	HP CD79A CCR6
33	anterior uveitis	30.3	ICOSLG CD4 CCR6
34	thrombocytopenia	30.2	TNFSF13B MBL2 HP CD79A CD40LG CD4
35	cholangitis	30.2	HP HLA-DQB1 HLA-DQA1
36	type 1 diabetes mellitus	30.2	TNFRSF25 ICOSLG HLA-DQB1 HLA-DQA1 CD79A CCR6
37	iga glomerulonephritis	30.2	PIGR MBL2 CD79A CD40LG CCR6 C4A
38	henoch-schoenlein purpura	30.2	ICOSLG CD79A CD4 CCR6
39	food allergy	30.2	ICOSLG CD4 CCR6
40	common cold	30.2	ICOSLG CD40LG CD4 CCR6
41	proliferative glomerulonephritis	30.1	TNFSF13B ICOSLG CD79A CCR6
42	rubella	30.1	HLA-DQB1 HLA-DQA1 CD40LG
43	cholangitis, primary sclerosing	30.1	TNFRSF25 ICOSLG CD4 CCR6
44	dysgammaglobulinemia	30.1	TOR1A TNFRSF13B ICOSLG CD79A CD4
45	autoimmune polyendocrine syndrome	30.1	ICOSLG CD4 CCR6
46	scabies	30.0	MBL2 CD4 CCR6
47	collagenous colitis	30.0	TOR1A TGM2 CD4
48	erythema infectiosum	30.0	CD40LG CD4
49	duodenitis	30.0	TOR1A TGM2 CD4
50	microscopic colitis	30.0	TOR1A TGM2 CD4

Graphical network of the top 20 diseases related to Immunoglobulin Alpha Deficiency:

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Symptoms & Phenotypes for Immunoglobulin Alpha Deficiency

GenomeRNAi Phenotypes related to Immunoglobulin Alpha Deficiency according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.18	AICDA C4A CCR6 CD19 CD4 CD40LG
2	no effect	GR00402-S-2	10.18	AICDA C4A CCR6 CD19 CD4 CD40LG
3	Reduced mammosphere formation	GR00396-S	9.5	C4A CCR6 CD79A HLA-DQA1 TNFRSF13B TNFRSF13C

MGI Mouse Phenotypes related to Immunoglobulin Alpha Deficiency:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	10.03	C4A CCR6 CD19 CD4 CD40LG CD79A
2	immune system	MP:0005387	9.93	AICDA C4A CCR6 CD19 CD4 CD40LG
3	renal/urinary system	MP:0005367	9.91	C4A CD19 CD40LG CD79A HLA-DQB1 HP
4	hematopoietic system	MP:0005397	9.6	AICDA C4A CCR6 CD19 CD4 CD40LG

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Drugs & Therapeutics for Immunoglobulin Alpha Deficiency

Drugs for Immunoglobulin Alpha Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

#		Name	Status	Phase	Clinical Trials	Cas Number	PubChem Id
1		Immunoglobulin A		Phase 1

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	A Phase I Dose Escalation Study of B-Lymphocyte Stimulator (BLyS) Administered Subcutaneously in Patients With Selective IgA Deficiency	Completed	NCT00024934	Phase 1	B-Lymphocyte Stimulator (BLyS)

Search NIH Clinical Center for Immunoglobulin Alpha Deficiency

Cochrane evidence based reviews: iga deficiency

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Genetic Tests for Immunoglobulin Alpha Deficiency

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Anatomical Context for Immunoglobulin Alpha Deficiency

Organs/tissues related to Immunoglobulin Alpha Deficiency:

MalaCards : Bone Marrow, T Cells, B Cells, Liver, Lung, Neutrophil, Bone

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Publications for Immunoglobulin Alpha Deficiency

Articles related to Immunoglobulin Alpha Deficiency:

(show top 50) (show all 1901)

#	Title	Authors	PMID	Year
1	Selective IgA deficiency. ⁵³ ⁶²	Yel L	20101521	2010
2	The outcome of patients with unclassified hypogammaglobulinemia in early childhood. ⁵³ ⁶²	Kutukculer N...Gulez N	19196447	2009
3	B-lymphocyte stimulator and a proliferation-inducing ligand serum levels in IgA-deficient patients with and without celiac disease. ⁵³ ⁶²	Fabris M...Tonutti E	19758161	2009
4	Adenosine deaminase in patients with primary immunodeficiency syndromes: the analysis of serum ADA1 and ADA2 activities. ⁵³ ⁶²	Poursharifi P...Shams S	19026999	2009
5	Clinical presentation of celiac disease and the diagnostic accuracy of serologic markers in children. ⁵³ ⁶²	Lurz E...Schibli S	18923841	2009
6	[IgA subclass and IgA deficiency]. ⁵³ ⁶²	Kaneko H...Kondo N	19564710	2009
7	Massive empyema associated with transient hypogammaglobulinemia of infancy and IgA deficiency. ⁵³ ⁶²	Park K...Kim JC	19399287	2009
8	Various expression patterns of alpha1 and alpha2 genes in IgA deficiency. ⁵³ ⁶²	Suzuki H...Kondo N	19153537	2009
9	The shared CTLA4-ICOS risk locus in celiac disease, IgA deficiency and common variable immunodeficiency. ⁵³ ⁶²	Haimila K...Saavalainen P	19020530	2009
10	Antibodies against synthetic deamidated gliadin peptides for celiac disease diagnosis and follow-up in children. ⁵³ ⁶²	Basso D...Plebani M	18988751	2009
11	An evaluation of the DiaMed assays for immunoglobulin A antibodies (anti-IgA) and IgA deficiency. ⁵³ ⁶²	Brown R...Popp H	18657081	2008
12	Selective immunoglobulin A deficiency in Iranian blood donors: prevalence, laboratory and clinical findings. ⁵³ ⁶²	Saghafi S...Moin M	18780950	2008
13	Celiac disease in patients with type-1 diabetes mellitus screened by tissue transglutaminase antibodies in northwest of Iran. ⁵³ ⁶²	Sharifi N...Bahrami A	19902043	2008
14	Autoimmunity in IgA deficiency: revisiting the role of IgA as a silent housekeeper. ⁵³ ⁶²	Jacob CM...Monteiro RC	18202833	2008
15	Alterations in humoral immunity in relatives of patients with common variable immunodeficiency. ⁵³ ⁶²	Aghamohammadi A...Pourpak Z	18714534	2008
16	Association of HLA-08:DRB103 with immunoglobulin A-deficiency. ⁵³ ⁶²	Czyzewska-Buczynska A...Jankowski A	18057683	2007
17	Mapping susceptibility gene locus for IgA deficiency at del(18)(q22.3-q23); report of familial cryptic chromosome t(18q; 10p) translocations. ⁵³ ⁶²	Dostal A...Tienari P	17504501	2007
18	The clinical significance of immunoglobulin A deficiency. ⁵³ ⁶²	Latiff AH...Kerr MA	17362578	2007
19	Increases in serum immunoglobulins to age-related normal levels in children with IgA and/or IgG subclass deficiency. ⁵³ ⁶²	Kutukculer N...Aksu G	17338791	2007
20	Population screening for coeliac disease in a low prevalence area in Italy. ⁵³ ⁶²	Menardo G...Pesce G	17101572	2006
21	TACI mutation in common variable immunodeficiency and IgA deficiency. ⁵³ ⁶²	Rachid R...Bonilla FA	16899196	2006
22	Do we need to measure total serum IgA to exclude IgA deficiency in coeliac disease? ⁵³ ⁶²	Sinclair D...Kerr D	16489174	2006
23	Interleukin-10 polymorphisms in Spanish IgA deficiency patients: a case-control and family study. ⁵³ ⁶²	Ortiz J...Martinez A	16803619	2006
24	Dermatitis herpetiformis and partial IgA deficiency. ⁵³ ⁶²	Samolitis NJ...Zone JJ	16631941	2006
25	Increased apoptosis of CD20+ IgA + B cells is the basis for IgA deficiency: the molecular mechanism for correction in vitro by IL-10 and CD40L. ⁵³ ⁶²	Husain Z...Alper CA	16758339	2006
26	Immunoglobulins and inflammatory cytokines in nasal secretions in humoral immunodeficiencies. ⁵³ ⁶²	Rose MA...Zielen S	16467712	2006
27	Celiac disease in North Italian patients with autoimmune Addison's disease. ⁵³ ⁶²	Betterle C...Albergoni M	16452541	2006
28	Rheumatoid arthritis in a patient with common variable immunodeficiency: difficulty in diagnosis and therapy. ⁵³ ⁶²	Swierkot J...Szechinski J	15940551	2006
29	The prevalence of humoral immunodeficiency in refractory rhinosinusitis: a retrospective analysis. ⁵³ ⁶²	Vanlerberghe L...Jorissen M	17256402	2006
30	An unusual case of hemoperitoneum owing to acute splenic torsion in a child with immunoglobulin deficiency. ⁵³ ⁶²	Lopez-Tomassetti Fernandez EM...Carrillo Pallares A	16534164	2006
31	TACI is mutant in common variable immunodeficiency and IgA deficiency. ⁵³ ⁶²	Castigli E...Geha RS	16007086	2005
32	Frequent false positive beta human chorionic gonadotropin tests in immunoglobulin A deficiency. ⁵³ ⁶²	Knight AK...Cunningham-Rundles C	15996198	2005
33	IgA deficiency: clinical correlates with IgG subclass and mannan-binding lectin deficiencies. ⁵³ ⁶²	Santaella ML...Disdier OM	16116926	2005
34	IgA deficiency and membranous glomerulonephritis presenting as nephrotic syndrome. ⁵³ ⁶²	Kawasaki Y...Suzuki H	15711951	2005
35	IgA and/or IgG subclass deficiency in children with recurrent respiratory infections and its relationship with chronic pulmonary damage. ⁵³ ⁶²	Ozkan H...Gunvar T	15864886	2005
36	Diagnosing celiac disease: a comparison of human tissue transglutaminase antibodies with antigliadin and antiendomysium antibodies. ⁵³ ⁶²	Baudon JJ...Mougenot JF	15184223	2004
37	Molecular analysis of B-cell differentiation in selective or partial IgA deficiency. ⁵³ ⁶²	Asano T...Kondo N	15086392	2004
38	Gender, age and seasonal effects on IgA deficiency: a study of 7293 Caucasians. ⁵³ ⁶²	Weber-Mzell D...Deutsch J	15025682	2004
39	Oral manifestations in selective IgA deficiency. ⁵³ ⁶²	Nikfarjam J...Aghamohammadi A	16451448	2004
40	Immunoglobulin subclasses and HLA alleles in immunoglobulin A deficiency. ⁵³ ⁶²	Kilic SS...Goral G	12841399	2003
41	The syndrome of chronic mucocutaneous candidiasis with selective antibody deficiency. ⁵³ ⁶²	Kalfa VC...Stiehm ER	12602677	2003
42	IgA deficiency with membranous glomerulonephritis: a case report and review. ⁵³ ⁶²	Huang JB...Lin CC	12649548	2003
43	Evaluation of the relevance of humoral immunodeficiencies in a pediatric population affected by recurrent infections. ⁵³ ⁶²	Finocchi A...Moschese V	12485321	2002
44	Celiac disease and immunoglobulin a deficiency: how effective are the serological methods of diagnosis? ⁵³ ⁶²	Kumar V...Jablonska S	12414763	2002
45	MHC susceptibility genes to IgA deficiency are located in different regions on different HLA haplotypes. ⁵³ ⁶²	De la Concha EG...Fontan G	12370403	2002
46	Immunoglobulin G autoantibodies against tissue-transglutaminase. A sensitive, cost-effective assay for the screening of celiac disease. ⁵³ ⁶²	Bilbao JR...Castano L	12482193	2002
47	Central MHC genes affect IgA levels in the human: reciprocal effects in IgA deficiency and IgA nephropathy. ⁵³ ⁶²	Matthews VB...Price P	11975987	2002
48	Analysis of Ig subclass deficiency: First reported case of IgG2, IgG4, and IgA deficiency caused by deletion of C alpha 1, psi C gamma, C gamma 2, C gamma 4, and C epsilon in a Mongoloid patient. ⁵³ ⁶²	Terada T...Kondo N	11590388	2001
49	Physiology of IgA and IgA deficiency. ⁵³ ⁶²	Cunningham-Rundles C	11720003	2001
50	[IgA deficiency]. ⁵³ ⁶²	Quartier P	11446186	2001

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Genes for Immunoglobulin Alpha Deficiency

Genes related to Immunoglobulin Alpha Deficiency (0 elite genes):

(show all 27)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TNFRSF13B	TNF Receptor Superfamily Member 13B	Protein Coding	16.02	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	16007086 16899196
2	CD79A	CD79a Molecule	Protein Coding	15.52	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	17362578 2093881 16631941 (more) 20101521 10757854 10361242 8338210 7614739 10702491 1817567 2130777 18657081 12649548 9175025 16452541 7874319 2377448 12841399 15086392 7892814 9606003 16489174 1735187 10931389 8385798 7593466 18714534 17338791 1356100 16803619 7998658 19153537 15864886 11446186 1496540 7686742 18988751 7645563 1509524 11720003 2206270 1641842 7583926 10090895 8885159 18057683 15996198 8634934 8195313 8301144 1728983 17504501 17101572 15025682 12370403 11975987 10370371 8039782 19026999 18923841 17256402 16534164 11141427 8885812 1728531 2071295 2402790 8516791 1885069 11590388 7527197 8222325 19564710 15711951 1891793 12602677 9222726 7546158 16451448 12414763 9338552 1481472 2094745 19902043 19020530 19399287 18780950 18202833 8271124 7874323 10975212 1493932 1529270 1625088 19196447 19758161 15184223 12482193 11044476
3	CD40LG	CD40 Ligand	Protein Coding	14.53	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	1496540 8385798 15940551 (more) 2146585 10361242 19196447 1502496 18714534 16467712 12485321 8398198 1728983 16758339 8711159 8222325 2375827
4	C4A	Complement C4A (Rodgers Blood Group)	Protein Coding	11.79	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	1817567
5	HLA-DQB1	Major Histocompatibility Complex, Class II, DQ Beta 1	Protein Coding	11.52	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	1438261 1520483
6	ICOSLG	Inducible T Cell Costimulator Ligand	Protein Coding	8.94	DISEASES inferred ¹⁴ ¹⁴
7	MBL2	Mannose Binding Lectin 2	Protein Coding	8.87	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	10361242 7707811 16116926
8	CCR6	C-C Motif Chemokine Receptor 6	Protein Coding	8.26	DISEASES inferred ¹⁴ ¹⁴
9	TGM2	Transglutaminase 2	Protein Coding	8.09	DISEASES inferred ¹⁴
10	TOR1A	Torsin Family 1 Member A	Protein Coding	8.04	DISEASES inferred ¹⁴
11	HP	Haptoglobin	Protein Coding	7.97	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8711159
12	PIGR	Polymeric Immunoglobulin Receptor	Protein Coding	7.08	DISEASES inferred ¹⁴
13	JCHAIN	Joining Chain Of Multimeric IgA And IgM	Protein Coding	7	DISEASES inferred ¹⁴
14	TNFRSF25	TNF Receptor Superfamily Member 25	Protein Coding	6.84	DISEASES inferred ¹⁴
15	CD4	CD4 Molecule	Protein Coding	6.5	DISEASES inferred ¹⁴
16	AICDA	Activation Induced Cytidine Deaminase	Protein Coding	6.48	DISEASES inferred ¹⁴
17	TNFRSF13C	TNF Receptor Superfamily Member 13C	Protein Coding	6.44	DISEASES inferred ¹⁴
18	TNFSF13B	TNF Superfamily Member 13b	Protein Coding	6.44	DISEASES inferred ¹⁴
19	CD19	CD19 Molecule	Protein Coding	6.43	DISEASES inferred ¹⁴
20	HLA-DQA1	Major Histocompatibility Complex, Class II, DQ Alpha 1	Protein Coding	6.41	DISEASES inferred ¹⁴
21	CD27	CD27 Molecule	Protein Coding	6.3	DISEASES inferred ¹⁴
22	FCAR	Fc Alpha Receptor	Protein Coding	6.29	DISEASES inferred ¹⁴
23	CD8A	CD8a Molecule	Protein Coding	6.2	DISEASES inferred ¹⁴
24	LRBA	LPS Responsive Beige-Like Anchor Protein	Protein Coding	6.2	DISEASES inferred ¹⁴
25	RAG1	Recombination Activating 1	Protein Coding	6.05	DISEASES inferred ¹⁴
26	MSH5	MutS Homolog 5	Protein Coding	6	DISEASES inferred ¹⁴
27	IL10	Interleukin 10	Protein Coding	5.94	DISEASES inferred ¹⁴

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Variations for Immunoglobulin Alpha Deficiency

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Expression for Immunoglobulin Alpha Deficiency

Search GEO for disease gene expression data for Immunoglobulin Alpha Deficiency.

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Pathways for Immunoglobulin Alpha Deficiency

Pathways related to Immunoglobulin Alpha Deficiency according to GeneCards Suite gene sharing:

(show all 15)

#	Super pathways	Score	Top Affiliating Genes
1	Akt Signaling ⁶⁴ Show member pathways p38 Signaling ⁶⁴ Tec Kinases Signaling ⁶⁴	13.23	TNFSF13B TNFRSF25 TNFRSF13C TNFRSF13B CD40LG CD4
2	PAK Pathway ⁶⁴ Show member pathways Antioxidant Action of Vitamin-C ⁶⁴ Epithelial Adherens Junctions ⁶⁴	13.09	TNFSF13B TNFRSF25 TNFRSF13C TNFRSF13B CD40LG CD4
3	Cytokine Signaling in Immune system ⁶⁶ Show member pathways Signaling by Interleukins ⁶⁶	13.09	CD4 CD40LG HLA-DQA1 HLA-DQB1 TNFRSF13B TNFRSF13C
4	Innate Immune System ⁶⁶ Show member pathways Immune System ⁶⁶ Neutrophil degranulation ⁶⁶	13.08	TNFSF13B TNFRSF25 TNFRSF13C TNFRSF13B PIGR MBL2
5	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	12.41	ICOSLG HLA-DQB1 HLA-DQA1 CD79A
6	TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions ⁶⁵ Show member pathways 14-3-3 Induced Apoptosis ⁶⁴ TNF Superfamily Pathway ⁶⁴ TNFs bind their physiological receptors ⁶⁶ TRAF Pathway ⁶⁴	12.4	TNFSF13B TNFRSF25 TNFRSF13C TNFRSF13B CD40LG
7	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	12.19	ICOSLG HLA-DQB1 HLA-DQA1 CD4
8	NF-kappaB Signaling ³	12.15	AICDA CD19 CD40LG CD79A TNFRSF25 TNFSF13B
9	CD28 Signaling in T-Helper Cell ⁶⁴ Show member pathways ICos-ICosL Pathway in T-Helper Cell ⁶⁴	11.93	ICOSLG HLA-DQB1 HLA-DQA1 CD40LG CD4
10	Allograft rejection ⁷⁴	11.64	HLA-DQB1 HLA-DQA1 CD40LG C4A
11	Phosphorylation of CD3 and TCR zeta chains ⁶⁶ Show member pathways Generation of second messenger molecules ⁶⁶ PD-1 signaling ⁶⁶	11.6	HLA-DQB1 HLA-DQA1 CD4
12	Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway ²² Show member pathways Apoptosis and survival Anti-apoptotic TNFs/NF-kB/IAP pathway ²²	11.49	TNFSF13B TNFRSF25 TNFRSF13B CD40LG
13	IL4-mediated signaling events ⁶¹	11.45	AICDA CD40LG PIGR
14	THC Differentiation Pathway ⁶⁴	11.34	HLA-DQB1 HLA-DQA1 CD40LG CD4
15	Extrafollicular B cell activation by SARS-CoV-2 ⁷⁴	11.28	ICOSLG CD79A CD40LG CD19 C4A AICDA

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GO Terms for Immunoglobulin Alpha Deficiency

Cellular components related to Immunoglobulin Alpha Deficiency according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	membrane	GO:0016021	10.35	CCR6 CD19 CD4 CD40LG CD79A HLA-DQA1
2	membrane	GO:0016020	10.35	CCR6 CD19 CD4 CD40LG CD79A HLA-DQA1
3	plasma membrane	GO:0005887	10.03	CCR6 CD19 CD4 CD40LG HLA-DQA1 PIGR
4	plasma membrane	GO:0005886	10.03	CCR6 CD19 CD4 CD40LG HLA-DQA1 PIGR
5	secretory IgA immunoglobulin complex	GO:0071751	9.56	PIGR JCHAIN
6	external side of plasma membrane	GO:0009897	9.53	TNFRSF13C MBL2 ICOSLG CD79A CD40LG CD4

Biological processes related to Immunoglobulin Alpha Deficiency according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	tumor necrosis factor-mediated signaling pathway	GO:0033209	9.95	TNFSF13B TNFRSF25 TNFRSF13C
2	immune response	GO:0006955	9.93	CCR6 CD4 CD40LG HLA-DQA1 HLA-DQB1 JCHAIN
3	B cell proliferation	GO:0042100	9.91	TNFSF13B CD79A CD40LG
4	adaptive immune response	GO:0002250	9.89	TNFRSF13C TNFRSF13B JCHAIN ICOSLG HLA-DQB1 HLA-DQA1
5	T cell costimulation	GO:0031295	9.88	TNFSF13B TNFRSF13C CD40LG
6	B cell differentiation	GO:0030183	9.86	TNFSF13B CD79A CD40LG AICDA
7	positive regulation of T cell activation	GO:0050870	9.77	CD4 HLA-DQA1 HLA-DQB1
8	B cell costimulation	GO:0031296	9.62	TNFSF13B TNFRSF13C
9	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II	GO:0002504	9.46	HLA-DQB1 HLA-DQA1
10	immune system process	GO:0002376	9.4	TNFSF13B TNFRSF13C TNFRSF13B MBL2 ICOSLG HP

Molecular functions related to Immunoglobulin Alpha Deficiency according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	signaling receptor activity	GO:0038023	9.65	TNFRSF25 TNFRSF13C TNFRSF13B CD4 CCR6
2	MHC class II protein complex binding	GO:0023026	9.02	HLA-DQB1 HLA-DQA1 CD4

Sources

Sources for Immunoglobulin Alpha Deficiency

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: IMM003 MIFTS: 40	Immunoglobulin Alpha Deficiency Categories: Genetic diseases, Immune diseases	Data Licensing For inquiries, contact: [email protected]
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