HIGM1
MCID: IMM174
MIFTS: 63

Immunodeficiency with Hyper-Igm, Type 1 (HIGM1)

Categories: Blood diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Immunodeficiency with Hyper-Igm, Type 1

MalaCards integrated aliases for Immunodeficiency with Hyper-Igm, Type 1:

Name: Immunodeficiency with Hyper-Igm, Type 1 57 75
Higm1 57 53 59 75
Immunodeficiency with Hyper Igm Type 1 53 29 6
Hyper-Igm Syndrome 57 75 55
Xhim 57 53 75
Higm 57 53 75
Hyper-Igm Immunodeficiency Syndrome, Type 1 44 73
Immunodeficiency, X-Linked, with Hyper-Igm 57 13
X-Linked Hyper Igm Syndrome 53 75
Hyper-Igm Syndrome 1 57 75
Immunodeficiency 3 57 75
Hyper Igm Syndrome 76 53
Imd3 57 75
Ihis 53 75
Hyper-Igm Syndrome Due to Cd40 Ligand Deficiency 59
Hyper-Igm Immunodeficiency, X-Linked; Xhim 57
Hyper-Igm Syndrome Due to Cd40l Deficiency 59
X-Linked Immunodeficiency with Hyper-Igm 1 75
Immunodeficiency, with Hyper Igm, Type 1 40
Hyper-Igm Immunodeficiency, X-Linked 57
Hyper Igm Immunodeficiency, X-Linked 53
Hyper-Igm Syndrome; Higm; Ihis 57
Hyperimmunoglobulin M Syndrome 73
X-Linked Hyper-Igm Syndrome 59
Hyper-Igm Syndrome Type 1 59
Immunodeficiency 3; Imd3 57
Hyper Igm Syndrome 1 53
Xhigm 59

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
recurrent bacterial infections with onset in the first or second year of life
pneumocytosis carinii infection (12 to 42%)
opportunistic infections


HPO:

32
immunodeficiency with hyper-igm, type 1:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


Summaries for Immunodeficiency with Hyper-Igm, Type 1

Genetics Home Reference : 25 X-linked hyper IgM syndrome is a condition that affects the immune system and occurs almost exclusively in males. People with this disorder have abnormal levels of proteins called antibodies or immunoglobulins. Antibodies help protect the body against infection by attaching to specific foreign particles and germs, marking them for destruction. There are several classes of antibodies, and each one has a different function in the immune system. Although the name of this condition implies that affected individuals always have high levels of immunoglobulin M (IgM), some people have normal levels of this antibody. People with X-linked hyper IgM syndrome have low levels of three other classes of antibodies: immunoglobulin G (IgG), immunoglobulin A (IgA), and immunoglobulin E (IgE). The lack of certain antibody classes makes it difficult for people with this disorder to fight off infections.

MalaCards based summary : Immunodeficiency with Hyper-Igm, Type 1, also known as higm1, is related to cd40 ligand deficiency and immunoglobulin g deficiency, and has symptoms including diarrhea An important gene associated with Immunodeficiency with Hyper-Igm, Type 1 is CD40LG (CD40 Ligand), and among its related pathways/superpathways are Development Angiotensin activation of ERK and Allograft rejection. The drugs Immunoglobulins, Intravenous and gamma-Globulins have been mentioned in the context of this disorder. Affiliated tissues include b cells, liver and bone, and related phenotypes are splenomegaly and hepatomegaly

NIH Rare Diseases : 53 Hyper IgM syndrome is a type of primary immunodeficiency syndrome. Primary immunodeficiency occurs when part of a person�??s immune system is missing or does not work correctly. The bodies of people with primary immunodeficiency can�??t get rid of germs or protect themselves from new germs as well as they should. Primary immunodeficiencies are inherited, meaning they are passed down from parents to children.Hyper IgM syndromes are characterized by normal or elevated serum immunoglobulin M levels with absence of immunoglobulin G, A, and E. Immunoglobulins are proteins found in the blood. Hyper IgM results in a susceptibility to bacterial infections and sometimes opportunistic infections. There are five different types of hyper IgM syndromes (types 1-5). The types are distinguished by the location of the genemutation involved.

OMIM : 57 HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by Levy et al., 1997). (308230)

UniProtKB/Swiss-Prot : 75 Immunodeficiency with hyper-IgM, type 1: Immunoglobulin isotype switch defect characterized by elevated concentrations of serum IgM and decreased amounts of all other isotypes. Affected males present at an early age (usually within the first year of life) recurrent bacterial and opportunistic infections, including Pneumocystis carinii pneumonia and intractable diarrhea due to cryptosporidium infection. Despite substitution treatment with intravenous immunoglobulin, the overall prognosis is rather poor, with a death rate of about 10% before adolescence.

Wikipedia : 76 Hyper IgM syndromes is a group of primary immune deficiency disorders characterized by defective CD40... more...

Related Diseases for Immunodeficiency with Hyper-Igm, Type 1

Diseases related to Immunodeficiency with Hyper-Igm, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 122)
# Related Disease Score Top Affiliating Genes
1 cd40 ligand deficiency 32.1 AICDA CD40 CD40LG UNG
2 immunoglobulin g deficiency 32.0 CD40LG CD79A IGHE
3 immunodeficiency with hyper-igm, type 3 31.7 AICDA CD40 CD40LG
4 immunodeficiency with hyper-igm, type 4 31.5 AICDA CD40 CD40LG UNG
5 immunodeficiency with hyper-igm, type 2 31.5 AICDA CD40 CD40LG UNG
6 congenital rubella 30.2 CD40LG UNG
7 rubella 30.1 CD40LG IL4
8 meningoencephalitis 30.1 CD40LG CD79A
9 toxoplasmosis 29.7 CD40 CD40LG CD79A IL4
10 common variable immunodeficiency 29.6 AICDA BTK CD40 CD40LG CD79A IL4
11 agammaglobulinemia, x-linked 29.4 BTK CD40 CD40LG CD79A IL4
12 systemic lupus erythematosus 29.3 CD40 CD40LG CD79A IL4
13 hyper-igm syndrome without susceptibility to opportunistic infections 12.4
14 hyper-igm syndrome with susceptibility to opportunistic infections 12.4
15 ectodermal dysplasia, hypohidrotic, with immune deficiency 11.8
16 immunodeficiency, common variable, 3 11.1
17 immunodeficiency with hyper-igm, type 5 11.1
18 neutropenia 10.3
19 light fixation seizure syndrome 10.2 CD40 CD40LG
20 ataxia-telangiectasia 10.2
21 sclerosing cholangitis 10.2
22 pneumonia 10.2
23 cholangitis 10.2
24 c1q nephropathy 10.2 CD40LG CD79A
25 cryofibrinogenemia 10.2 CD40LG CD79A
26 heparin-induced thrombocytopenia 10.2 CD40LG CD79A
27 sporotrichosis 10.2 CD40LG CD79A
28 congenital syphilis 10.2 CD40LG CD79A
29 syphilis 10.2 CD40LG CD79A
30 secondary syphilis 10.2 CD40LG CD79A
31 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.2 CD40LG CD79A
32 persistent generalized lymphadenopathy 10.2 CD40LG CD79A
33 congenital toxoplasmosis 10.2 CD40LG CD79A
34 immunoglobulin alpha deficiency 10.2 CD40LG CD79A
35 cryptosporidiosis 10.2 CD40LG CD79A
36 exanthema subitum 10.2 CD40 CD40LG
37 episodic angioedema with eosinophilia 10.2 CD40LG IGHE
38 macroglobulinemia 10.2 BTK CD40LG
39 pustulosis palmaris et plantaris 10.1 CD40LG CD79A
40 small intestine lymphoma 10.1 CD40 CD79A
41 dysgerminoma of ovary 10.1 CD40LG CD79A
42 pneumocystosis 10.1
43 cryptococcosis 10.1
44 progressive multifocal leukoencephalopathy 10.1
45 lupus erythematosus 10.1
46 encephalitis 10.1
47 exercise-induced anaphylaxis 10.1 CD79A IGHE
48 marginal zone b-cell lymphoma 10.1 CD40LG CD79A
49 agammaglobulinemia, non-bruton type 10.1 BTK CD79A
50 mature b-cell neoplasm 10.1 CD40 CD79A

Graphical network of the top 20 diseases related to Immunodeficiency with Hyper-Igm, Type 1:



Diseases related to Immunodeficiency with Hyper-Igm, Type 1

Symptoms & Phenotypes for Immunodeficiency with Hyper-Igm, Type 1

Symptoms via clinical synopsis from OMIM:

57
Abdomen Spleen:
splenomegaly

Immunology:
immunodeficiency
decreased t cell activation
dysgammaglobulinemia
primary dysfunction of b-lymphocyte isotype switching and memory b-cell generation
lymph nodes lack germinal centers
more
Head And Neck Mouth:
gingivitis
tonsillar hypertrophy
ulcerative stomatitis

Abdomen Liver:
hepatomegaly
chronic hepatitis

Hematology:
hemolytic anemia
thrombocytopenia
neutropenia, chronic or cyclic
amemia

Abdomen Gastrointestinal:
diarrhea
proctitis


Clinical features from OMIM:

308230

Human phenotypes related to Immunodeficiency with Hyper-Igm, Type 1:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 hepatomegaly 32 HP:0002240
3 immunodeficiency 32 HP:0002721
4 hemolytic anemia 32 HP:0001878
5 thrombocytopenia 32 HP:0001873
6 gingivitis 32 HP:0000230
7 diarrhea 32 HP:0002014
8 neutropenia 32 HP:0001875
9 recurrent bacterial infections 32 HP:0002718
10 iga deficiency 32 HP:0002720
11 igg deficiency 32 HP:0004315
12 decreased t cell activation 32 HP:0005419
13 increased igm level 32 HP:0003496
14 dysgammaglobulinemia 32 HP:0002961
15 enlarged tonsils 32 HP:0030812
16 stomatitis 32 HP:0010280
17 absence of lymph node germinal center 32 HP:0002849
18 chronic hepatitis 32 HP:0200123
19 impaired memory b cell generation 32 HP:0002847
20 impaired ig class switch recombination 32 HP:0002959
21 ige deficiency 32 HP:0005479

UMLS symptoms related to Immunodeficiency with Hyper-Igm, Type 1:


diarrhea

MGI Mouse Phenotypes related to Immunodeficiency with Hyper-Igm, Type 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.01 AICDA BTK CD40 CD40LG CD79A HPRT1
2 cellular MP:0005384 9.98 AICDA BTK CD40LG CD79A HPRT1 IL4
3 immune system MP:0005387 9.92 AICDA BTK CD40 CD40LG CD79A HPRT1
4 homeostasis/metabolism MP:0005376 9.91 BTK CD40 CD40LG CD79A HPRT1 IL4
5 integument MP:0010771 9.65 AICDA BTK CD40LG HPRT1 IL4
6 neoplasm MP:0002006 9.55 AICDA BTK CD79A HPRT1 UNG
7 normal MP:0002873 9.43 AICDA CD40 CD79A HPRT1 IL4 UNG
8 renal/urinary system MP:0005367 9.02 CD40 CD40LG CD79A HPRT1 IL4

Drugs & Therapeutics for Immunodeficiency with Hyper-Igm, Type 1

Drugs for Immunodeficiency with Hyper-Igm, Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 62)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins, Intravenous Phase 4,Phase 3,Phase 2
2 gamma-Globulins Phase 4,Phase 3,Phase 2
3 Immunologic Factors Phase 4,Phase 3,Not Applicable
4 Rho(D) Immune Globulin Phase 4,Phase 3,Phase 2
5 Antibodies Phase 4,Phase 3
6 Immunoglobulins Phase 4,Phase 3
7 Immunoglobulin G Phase 3
8
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
9
Methylprednisolone hemisuccinate Approved Phase 2,Not Applicable 2921-57-5
10
Prednisone Approved, Vet_approved Phase 2,Not Applicable 53-03-2 5865
11
Fludarabine Approved Phase 2,Not Applicable 75607-67-9, 21679-14-1 30751
12
Prednisolone Approved, Vet_approved Phase 2,Not Applicable 50-24-8 5755
13
Prednisolone phosphate Approved, Vet_approved Phase 2,Not Applicable 302-25-0
14
Methylprednisolone Approved, Vet_approved Phase 2,Not Applicable 83-43-2 6741
15
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
16
Prednisolone hemisuccinate Experimental Phase 2,Not Applicable 2920-86-7
17 Vaccines Phase 2
18 Methylprednisolone acetate Phase 2,Not Applicable
19 Prednisolone acetate Phase 2,Not Applicable
20 Cyclosporins Phase 2,Not Applicable
21
Vidarabine Approved, Investigational Not Applicable 24356-66-9 32326 21704
22
Cyclophosphamide Approved, Investigational Not Applicable 6055-19-2, 50-18-0 2907
23
Busulfan Approved, Investigational Not Applicable 55-98-1 2478
24
Mesna Approved, Investigational Not Applicable 3375-50-6 598
25
Miconazole Approved, Investigational, Vet_approved Not Applicable 22916-47-8 4189
26
Etoposide Approved Not Applicable 33419-42-0 36462
27
Methotrexate Approved Not Applicable 59-05-2, 1959-05-2 126941
28
leucovorin Approved Not Applicable 58-05-9 6006 143
29
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
30 Alkylating Agents Not Applicable
31 Antiviral Agents Not Applicable
32 Antirheumatic Agents Not Applicable
33 Antineoplastic Agents, Alkylating Not Applicable
34 Immunosuppressive Agents Not Applicable
35 Antimetabolites Not Applicable
36 Antimetabolites, Antineoplastic Not Applicable
37 Protective Agents Not Applicable
38 Anti-Infective Agents Not Applicable
39 Neuroprotective Agents Not Applicable
40 Autonomic Agents Not Applicable
41 Antilymphocyte Serum Not Applicable
42 Antineoplastic Agents, Phytogenic Not Applicable
43 Calcineurin Inhibitors Not Applicable
44 Antiemetics Not Applicable
45 Folic Acid Antagonists Not Applicable
46 Peripheral Nervous System Agents Not Applicable
47 Gastrointestinal Agents Not Applicable
48 Vitamin B Complex Not Applicable
49 Hormone Antagonists Not Applicable
50 glucocorticoids Not Applicable

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy Study of Flebogamma 5% DIF IGIV in Pediatric Subjects Completed NCT00634569 Phase 4
2 A Study to Find Out How Safe and Effective Gammaplex® is in Young People With Primary Immunodeficiency Completed NCT01289847 Phase 4
3 Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency Diseases Completed NCT01963143 Phase 3
4 A Clinical Study of Intravenous Immunoglobulin Completed NCT00468273 Phase 3 Immune Globulin Intravenous (Human) Omr-IgG-am IGIV
5 Pharmacokinetics (PK) and Safety of Subgam-VF in Primary Immunodeficiency Diseases Completed NCT01884311 Phase 3
6 Study of Immune Responses and Safety of Recombinant Human CD40 Ligand in Patients With X-Linked Hyper-IgM Syndrome Completed NCT00001145 Phase 2 Bacteriophage;rhuCD40L;KLH
7 Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204) Completed NCT01998633 Phase 2
8 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
9 Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders Unknown status NCT00004341
10 Immune Regulation in Patients With Common Variable Immunodeficiency and Related Syndromes Recruiting NCT00001244
11 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092 Not Applicable Alemtuzumab 0.3 mg;Cyclophosphamide;Busulfan;Fludarabine phosphate 40 mg;Melphalan;Alemtuzumab 0.2 mg;Busulfan;Fludarabine phosphate 30 mg;MESNA
12 Molecular and Clinical Studies of Primary Immunodeficiency Diseases Active, not recruiting NCT00006319
13 Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States Terminated NCT00266513
14 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 Not Applicable anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;methotrexate;methylprednisolone;prednisone

Search NIH Clinical Center for Immunodeficiency with Hyper-Igm, Type 1

Cochrane evidence based reviews: hyper-igm immunodeficiency syndrome, type 1

Genetic Tests for Immunodeficiency with Hyper-Igm, Type 1

Genetic tests related to Immunodeficiency with Hyper-Igm, Type 1:

# Genetic test Affiliating Genes
1 Immunodeficiency with Hyper Igm Type 1 29 CD40LG

Anatomical Context for Immunodeficiency with Hyper-Igm, Type 1

MalaCards organs/tissues related to Immunodeficiency with Hyper-Igm, Type 1:

41
B Cells, Liver, Bone, Bone Marrow, Lymph Node, T Cells, Tonsil

Publications for Immunodeficiency with Hyper-Igm, Type 1

Articles related to Immunodeficiency with Hyper-Igm, Type 1:

(show top 50) (show all 153)
# Title Authors Year
1
Disseminated cryptococcosis in two boys with novel mutation of CD40 Ligand-Associated X-linked hyper-IgM syndrome. ( 30447657 )
2018
2
Novel AICDA mutation in a case of autosomal recessive hyper-IgM syndrome, growth hormone deficiency and autoimmunity. ( 27789066 )
2017
3
X-linked Hyper-IgM Syndrome: A Phenotype of Crohn's Disease with Hemophagocytic Lymphohistiocytosis. ( 29303623 )
2017
4
A delayed diagnosis of X-linked hyper IgM syndrome complicated with toxoplasmic encephalitis in a child: A case report and literature review. ( 29245273 )
2017
5
X-linked Hyper IgM Syndrome Presenting as Pulmonary Alveolar Proteinosis. ( 27324886 )
2016
6
Targeted gene editing restores regulated CD40L function in X-linked hyper-IgM syndrome. ( 26903548 )
2016
7
Ataxia telangiectasia presenting as hyper IgM syndrome without neurologic signs. ( 27613453 )
2016
8
Hyper IgM Syndrome with low IgM and thrombocytosis: an unusual case of immunodeficiency. ( 27608476 )
2016
9
Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature. ( 27076228 )
2016
10
Liver Transplantation in a Patient With CD40 Ligand Deficiency and Hyper-IgM Syndrome: Clinical and Immunological Assessments. ( 26762604 )
2016
11
Bronchus-associated Lymphoid Tissue in Kabuki Syndrome with Associated Hyper-IgM Syndrome/Common Variable Immunodeficiency. ( 27275756 )
2016
12
Visceral Leishmaniasis May Unmask X-linked Hyper-IgM Syndrome. ( 26984850 )
2016
13
Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland. ( 27142677 )
2016
14
Ataxia Telangiectasia Masquerading as Hyper IgM Syndrome. ( 26220245 )
2015
15
A novel CD40LG deletion causes the hyper-IgM syndrome with normal CD40L expression in a 6-month-old child. ( 25752457 )
2015
16
X-linked hyper-IgM syndrome with eosinophilia in a male child: A case report. ( 25780430 )
2015
17
Autosomal recessive hyper IgM syndrome associated with activation-induced cytidine deaminase gene in three Turkish siblings presented with tuberculosis lymphadenitis - Case report. ( 26551569 )
2015
18
X-linked Hyper-IgM Syndrome with Bronchiectasis. ( 25328337 )
2014
19
X-linked hyper IgM syndrome: clinical, immunological and molecular features in patients from India. ( 24929972 )
2014
20
Clinical, molecular, and T cell subset analyses in a small cohort of Chinese patients with hyper-IgM syndrome type 1. ( 24768948 )
2014
21
A novel mutation in the CD40 ligand gene in a Chinese boy with X-linked hyper-IgM syndrome. ( 25268346 )
2014
22
First report of the Hyper-IgM syndrome Registry of the Latin American Society for Immunodeficiencies: novel mutations, unique infections, and outcomes. ( 24402618 )
2014
23
Morbidity and mortality of Iranian patients with hyper IgM syndrome: a clinical analysis. ( 24975969 )
2014
24
Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility. ( 24610295 )
2014
25
Clinical features and genetic analysis of 20 Chinese patients with X-linked hyper-IgM syndrome. ( 25215306 )
2014
26
Clinical and genetic analysis of patients with X-linked hyper-IgM syndrome. ( 22963373 )
2013
27
Clinical features and genetic analysis of Taiwanese patients with the hyper IgM syndrome phenotype. ( 23538518 )
2013
28
Recurrent Gallbladder Hydrops and Sclerosing Cholangitis in 11-Year-Old Male with Hyper IgM Syndrome. ( 24910752 )
2013
29
Clinical, immunological, and molecular characterization of hyper-IgM syndrome due to CD40 deficiency in eleven patients. ( 24122029 )
2013
30
X-linked hyper-IgM syndrome with CD40LG mutation: Two case reports and literature review in Taiwanese patients. ( 23010537 )
2012
31
A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome. ( 22841008 )
2012
32
Pneumocystis jiroveci pneumonia revealing de novo mutation causing X-linked hyper-IgM syndrome in an infant male. The first case reported from French Guiana. ( 22983414 )
2012
33
The polymorphism p.G219R of CD40L does not cause immunological alterations in vivo: conclusions from a X-linked hyper IgM syndrome kindred. ( 22750225 )
2012
34
CD40 agonist antibody mediated improvement of chronic Cryptosporidium infection in patients with X-linked hyper IgM syndrome. ( 22459705 )
2012
35
X-linked hyper IgM syndrome: a novel sequence variant associated with an atypical mild phenotype. ( 22322937 )
2012
36
Partial immune reconstitution of X-linked hyper IgM syndrome with recombinant CD40 ligand. ( 21841160 )
2011
37
Hyper-IgM, neutropenia, mild infections and low response to polyclonal stimulation: hyper-IgM syndrome or common variable immunodeficiency? ( 22230404 )
2011
38
Clinical and molecular characterization of X-linked hyper-IgM syndrome patients in China. ( 20591076 )
2010
39
Pitfalls of "hyper"-IgM syndrome: a new CD40 ligand mutation in the presence of low IgM levels. A case report and a critical review of the literature. ( 20981468 )
2010
40
Different molecular behavior of CD40 mutants causing hyper-IgM syndrome. ( 20702779 )
2010
41
ARDS as presenting symptom in an infant with CD40L deficiency (Hyper-IgM syndrome Type 1). ( 19707993 )
2009
42
Molecular characterization of patients with X-linked Hyper-IgM syndrome: description of two novel CD40L mutations. ( 19170966 )
2009
43
Clinical and laboratory findings in hyper-IgM syndrome with novel CD40L and AICDA mutations. ( 19575287 )
2009
44
Activation-induced cytidine deaminase expression and activity in the absence of germinal centers: insights into hyper-IgM syndrome. ( 19667096 )
2009
45
Ataxia-telangiectasia patients presenting with hyper-IgM syndrome. ( 19224889 )
2009
46
Large granular lymphocyte leukemia (LGL) in a child with hyper IgM syndrome and autoimmune hemolytic anemia. ( 16767728 )
2008
47
Severe congenital neutropenia or hyper-IgM syndrome? A novel mutation of CD40 ligand in a patient with severe neutropenia. ( 18594157 )
2008
48
Immunodeficiency and autoimmune phenomena in female hyper-IgM syndrome. ( 17785295 )
2007
49
X-linked hyper-IgM syndrome associated with a rapid course of multifocal leukoencephalopathy. ( 17296845 )
2007
50
X-linked hyper-IgM syndrome associated with poorly differentiated neuroendocrine tumor presenting as obstructive jaundice secondary to extensive adenopathy. ( 17436099 )
2007

Variations for Immunodeficiency with Hyper-Igm, Type 1

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency with Hyper-Igm, Type 1:

75 (show all 32)
# Symbol AA change Variation ID SNP ID
1 CD40LG p.Met36Arg VAR_007513 rs104894774
2 CD40LG p.Ala123Glu VAR_007514 rs104894778
3 CD40LG p.Val126Ala VAR_007515
4 CD40LG p.Trp140Cys VAR_007517
5 CD40LG p.Trp140Gly VAR_007518 rs104894777
6 CD40LG p.Trp140Arg VAR_007519
7 CD40LG p.Gly144Glu VAR_007520 rs886039326
8 CD40LG p.Leu155Pro VAR_007521 rs104894769
9 CD40LG p.Thr211Asn VAR_007522
10 CD40LG p.Gly227Val VAR_007524 rs104894768
11 CD40LG p.Leu231Ser VAR_007526
12 CD40LG p.Ala235Pro VAR_007527 rs104894771
13 CD40LG p.Thr254Met VAR_007528 rs193922136
14 CD40LG p.Thr147Asn VAR_017922 rs105752112
15 CD40LG p.Tyr170Cys VAR_017923 rs756468554
16 CD40LG p.Leu258Ser VAR_017924
17 CD40LG p.Gly38Arg VAR_017925
18 CD40LG p.His125Arg VAR_017926
19 CD40LG p.Gln174Arg VAR_017927
20 CD40LG p.Gly257Ser VAR_017928
21 CD40LG p.Gly116Arg VAR_017929
22 CD40LG p.Gly116Ser VAR_017930
23 CD40LG p.Val126Asp VAR_017931
24 CD40LG p.Lys143Thr VAR_017932
25 CD40LG p.Ala173Asp VAR_017933
26 CD40LG p.Thr176Ile VAR_017934
27 CD40LG p.Leu195Pro VAR_017935
28 CD40LG p.Ala208Asp VAR_017936
29 CD40LG p.His224Tyr VAR_017937
30 CD40LG p.Gly226Ala VAR_017938
31 CD40LG p.Val237Glu VAR_017939
32 CD40LG p.Gly257Asp VAR_017940

ClinVar genetic disease variations for Immunodeficiency with Hyper-Igm, Type 1:

6 (show top 50) (show all 60)
# Gene Variation Type Significance SNP ID Assembly Location
1 CD40LG NM_000074.2(CD40LG): c.703G> C (p.Ala235Pro) single nucleotide variant Pathogenic rs104894771 GRCh37 Chromosome X, 135741491: 135741491
2 CD40LG NM_000074.2(CD40LG): c.703G> C (p.Ala235Pro) single nucleotide variant Pathogenic rs104894771 GRCh38 Chromosome X, 136659332: 136659332
3 CD40LG NM_000074.2(CD40LG): c.384T> A (p.Ser128Arg) single nucleotide variant no interpretation for the single variant rs104894773 GRCh37 Chromosome X, 135738552: 135738552
4 CD40LG NM_000074.2(CD40LG): c.384T> A (p.Ser128Arg) single nucleotide variant no interpretation for the single variant rs104894773 GRCh38 Chromosome X, 136656393: 136656393
5 CD40LG NM_000074.2(CD40LG): c.680G> T (p.Gly227Val) single nucleotide variant Pathogenic rs104894768 GRCh37 Chromosome X, 135741468: 135741468
6 CD40LG NM_000074.2(CD40LG): c.680G> T (p.Gly227Val) single nucleotide variant Pathogenic rs104894768 GRCh38 Chromosome X, 136659309: 136659309
7 CD40LG NM_000074.2(CD40LG): c.464T> C (p.Leu155Pro) single nucleotide variant Pathogenic rs104894769 GRCh37 Chromosome X, 135741252: 135741252
8 CD40LG NM_000074.2(CD40LG): c.464T> C (p.Leu155Pro) single nucleotide variant Pathogenic rs104894769 GRCh38 Chromosome X, 136659093: 136659093
9 CD40LG CD40LG, THR211ASP undetermined variant Pathogenic
10 CD40LG NM_000074.2(CD40LG): c.107T> G (p.Met36Arg) single nucleotide variant Pathogenic rs104894774 GRCh37 Chromosome X, 135730514: 135730514
11 CD40LG NM_000074.2(CD40LG): c.107T> G (p.Met36Arg) single nucleotide variant Pathogenic rs104894774 GRCh38 Chromosome X, 136648355: 136648355
12 CD40LG NM_000074.2(CD40LG): c.419G> A (p.Trp140Ter) single nucleotide variant Pathogenic rs104894775 GRCh37 Chromosome X, 135741207: 135741207
13 CD40LG NM_000074.2(CD40LG): c.419G> A (p.Trp140Ter) single nucleotide variant Pathogenic rs104894775 GRCh38 Chromosome X, 136659048: 136659048
14 CD40LG NM_000074.2(CD40LG): c.418T> G (p.Trp140Gly) single nucleotide variant Likely pathogenic rs104894777 GRCh37 Chromosome X, 135741206: 135741206
15 CD40LG NM_000074.2(CD40LG): c.418T> G (p.Trp140Gly) single nucleotide variant Likely pathogenic rs104894777 GRCh38 Chromosome X, 136659047: 136659047
16 CD40LG CD40LG, 63-BP DEL deletion Pathogenic
17 CD40LG CD40LG, 8-BP DEL deletion Pathogenic
18 CD40LG CD40LG, 10-BP DEL deletion Pathogenic
19 CD40LG NM_000074.2(CD40LG): c.368C> A (p.Ala123Glu) single nucleotide variant Pathogenic rs104894778 GRCh37 Chromosome X, 135738536: 135738536
20 CD40LG NM_000074.2(CD40LG): c.368C> A (p.Ala123Glu) single nucleotide variant Pathogenic rs104894778 GRCh38 Chromosome X, 136656377: 136656377
21 CD40LG CD40LG, 1-BP INS, TTT-TTTT, FS84TER insertion Pathogenic
22 CD40LG CD40LG, ALU INS, EX1 insertion Pathogenic
23 CD40LG NM_000074.2(CD40LG): c.386A> G (p.Glu129Gly) single nucleotide variant no interpretation for the single variant rs104894772 GRCh37 Chromosome X, 135738554: 135738554
24 CD40LG NM_000074.2(CD40LG): c.386A> G (p.Glu129Gly) single nucleotide variant no interpretation for the single variant rs104894772 GRCh38 Chromosome X, 136656395: 136656395
25 CD40LG NM_000074.2(CD40LG): c.189delT (p.Phe63Leufs) deletion Likely pathogenic rs193922134 GRCh37 Chromosome X, 135732457: 135732457
26 CD40LG NM_000074.2(CD40LG): c.189delT (p.Phe63Leufs) deletion Likely pathogenic rs193922134 GRCh38 Chromosome X, 136650298: 136650298
27 CD40LG NM_000074.2(CD40LG): c.31C> T (p.Arg11Ter) single nucleotide variant Pathogenic rs193922135 GRCh37 Chromosome X, 135730438: 135730438
28 CD40LG NM_000074.2(CD40LG): c.31C> T (p.Arg11Ter) single nucleotide variant Pathogenic rs193922135 GRCh38 Chromosome X, 136648279: 136648279
29 CD40LG NM_000074.2(CD40LG): c.655G> A (p.Gly219Arg) single nucleotide variant Benign/Likely benign rs148594123 GRCh37 Chromosome X, 135741443: 135741443
30 CD40LG NM_000074.2(CD40LG): c.655G> A (p.Gly219Arg) single nucleotide variant Benign/Likely benign rs148594123 GRCh38 Chromosome X, 136659284: 136659284
31 CD40LG NM_000074.2(CD40LG): c.761C> T (p.Thr254Met) single nucleotide variant Pathogenic rs193922136 GRCh37 Chromosome X, 135741549: 135741549
32 CD40LG NM_000074.2(CD40LG): c.761C> T (p.Thr254Met) single nucleotide variant Pathogenic rs193922136 GRCh38 Chromosome X, 136659390: 136659390
33 CD40LG NM_000074.2(CD40LG): c.421G> C (p.Ala141Pro) single nucleotide variant Pathogenic GRCh38 Chromosome X, 136659050: 136659050
34 CD40LG NM_000074.2(CD40LG): c.421G> C (p.Ala141Pro) single nucleotide variant Pathogenic GRCh37 Chromosome X, 135741209: 135741209
35 CD40LG NM_000074.2(CD40LG): c.542G> C (p.Arg181Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs11575982 GRCh37 Chromosome X, 135741330: 135741330
36 CD40LG NM_000074.2(CD40LG): c.542G> C (p.Arg181Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs11575982 GRCh38 Chromosome X, 136659171: 136659171
37 CD40LG NM_000074.2(CD40LG): c.684A> G (p.Val228=) single nucleotide variant Benign rs11575983 GRCh37 Chromosome X, 135741472: 135741472
38 CD40LG NM_000074.2(CD40LG): c.684A> G (p.Val228=) single nucleotide variant Benign rs11575983 GRCh38 Chromosome X, 136659313: 136659313
39 CD40LG NM_000074.2(CD40LG): c.148T> C (p.Leu50=) single nucleotide variant Benign rs1126535 GRCh37 Chromosome X, 135730555: 135730555
40 CD40LG NM_000074.2(CD40LG): c.148T> C (p.Leu50=) single nucleotide variant Benign rs1126535 GRCh38 Chromosome X, 136648396: 136648396
41 CD40LG NM_000074.2(CD40LG): c.410-13T> C single nucleotide variant Benign rs3092923 GRCh38 Chromosome X, 136659026: 136659026
42 CD40LG NM_000074.2(CD40LG): c.410-13T> C single nucleotide variant Benign rs3092923 GRCh37 Chromosome X, 135741185: 135741185
43 CD40LG NM_000074.2(CD40LG): c.761C> A (p.Thr254Lys) single nucleotide variant Likely pathogenic rs193922136 GRCh38 Chromosome X, 136659390: 136659390
44 CD40LG NM_000074.2(CD40LG): c.761C> A (p.Thr254Lys) single nucleotide variant Likely pathogenic rs193922136 GRCh37 Chromosome X, 135741549: 135741549
45 CD40LG NM_000074.2(CD40LG): c.542G> A (p.Arg181Gln) single nucleotide variant Benign rs11575982 GRCh37 Chromosome X, 135741330: 135741330
46 CD40LG NM_000074.2(CD40LG): c.542G> A (p.Arg181Gln) single nucleotide variant Benign rs11575982 GRCh38 Chromosome X, 136659171: 136659171
47 CD40LG NC_000023.11: g.(?_136650246)_(136654450_?)del deletion Likely pathogenic GRCh38 Chromosome X, 136650246: 136654450
48 CD40LG NC_000023.11: g.(?_136650246)_(136654450_?)del deletion Likely pathogenic GRCh37 Chromosome X, 135732405: 135736609
49 CD40LG NM_000074.2(CD40LG): c.81A> G (p.Leu27=) single nucleotide variant Benign rs36063307 GRCh37 Chromosome X, 135730488: 135730488
50 CD40LG NM_000074.2(CD40LG): c.81A> G (p.Leu27=) single nucleotide variant Benign rs36063307 GRCh38 Chromosome X, 136648329: 136648329

Expression for Immunodeficiency with Hyper-Igm, Type 1

Search GEO for disease gene expression data for Immunodeficiency with Hyper-Igm, Type 1.

Pathways for Immunodeficiency with Hyper-Igm, Type 1

Pathways related to Immunodeficiency with Hyper-Igm, Type 1 according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.6 BTK CD40 CD40LG CD79A
2
Show member pathways
12.55 AICDA CD40 CD40LG IL4
3
Show member pathways
12.24 BTK CD79A IGHE IL4
4 12.17 AICDA BTK CD40LG CD79A IL4
5
Show member pathways
11.99 BTK CD40 CD40LG CD79A IGHE IL4
6
Show member pathways
11.94 CD40 CD40LG IL4
7
Show member pathways
11.66 BTK CD79A IGHE
8 11.59 BTK CD40 CD40LG
9 11.33 CD40 CD40LG
10 11.28 CD40 CD40LG
11 11.26 AICDA CD40LG IGHE IL4
12 11.24 CD40 CD40LG
13 11.06 CD40 CD40LG IL4
14 11.03 CD40 CD40LG
15 10.97 CD40 CD40LG IL4
16 10.88 BTK CD40LG IL4
17 10.67 AICDA BTK CD40 CD40LG CD79A UNG

GO Terms for Immunodeficiency with Hyper-Igm, Type 1

Cellular components related to Immunodeficiency with Hyper-Igm, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 8.92 CD40 CD40LG CD79A IGHE

Biological processes related to Immunodeficiency with Hyper-Igm, Type 1 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.8 BTK CD40 CD79A IGHE
2 regulation of immune response GO:0050776 9.7 CD40 CD40LG IL4
3 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.61 BTK CD40 CD40LG
4 positive regulation of B cell proliferation GO:0030890 9.54 CD40 IL4
5 B cell receptor signaling pathway GO:0050853 9.54 BTK CD79A IGHE
6 positive regulation of interleukin-12 production GO:0032735 9.51 CD40 CD40LG
7 positive regulation of endothelial cell apoptotic process GO:2000353 9.48 CD40 CD40LG
8 somatic hypermutation of immunoglobulin genes GO:0016446 9.46 AICDA UNG
9 isotype switching GO:0045190 9.4 AICDA CD40LG
10 B cell proliferation GO:0042100 9.33 CD40 CD40LG CD79A
11 positive regulation of isotype switching to IgG isotypes GO:0048304 9.32 CD40 IL4
12 regulation of immunoglobulin secretion GO:0051023 9.26 CD40 CD40LG
13 B cell differentiation GO:0030183 9.26 AICDA CD40LG CD79A IL4
14 B cell activation GO:0042113 8.92 BTK CD40 CD79A IL4

Sources for Immunodeficiency with Hyper-Igm, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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34 ICD10 via Orphanet
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44 MeSH
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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