HIGM1
MCID: IMM174
MIFTS: 64

Immunodeficiency with Hyper-Igm, Type 1 (HIGM1)

Categories: Blood diseases, Genetic diseases, Immune diseases, Infectious 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 72
Hyper Igm Syndrome 12 73 20 6 15
Higm1 57 20 58 72
Immunodeficiency, X-Linked, with Hyper-Igm 57 29 13
Hyper-Igm Syndrome Type 1 58 29 6
Hyper-Igm Syndrome 57 72 54
Xhim 57 20 72
Higm 57 20 72
Hyper-Igm Immunodeficiency Syndrome, Type 1 44 70
Immunodeficiency with Hyper-Igm 12 6
X-Linked Hyper Igm Syndrome 20 72
Hyper-Igm Syndrome 1 57 72
Immunodeficiency 3 57 72
Imd3 57 72
Ihis 20 72
Hyper-Igm Syndrome Due to Cd40 Ligand Deficiency 58
Hyper-Igm Immunodeficiency, X-Linked; Xhim 57
Hyper-Igm Syndrome Due to Cd40l Deficiency 58
X-Linked Immunodeficiency with Hyper-Igm 1 72
Immunodeficiency, with Hyper Igm, Type 1 39
Immunodeficiency with Hyper Igm Type 1 20
Hyper-Igm Immunodeficiency, X-Linked 57
Hyper Igm Immunodeficiency, X-Linked 20
Immunodeficiency, with Hyper Igm 39
Hyper-Igm Syndrome; Higm; Ihis 57
Hyperimmunoglobulin M Syndrome 70
X-Linked Hyper-Igm Syndrome 58
Immunodeficiency 3; Imd3 57
Hyper Igm Syndrome 1 20
Xhigm 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
immunodeficiency with hyper-igm, type 1:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0080544
OMIM® 57 308230
OMIM Phenotypic Series 57 PS300755 PS308230
MeSH 44 D053307
NCIt 50 C3990
ICD10 via Orphanet 33 D80.5
UMLS via Orphanet 71 C0398689
Orphanet 58 ORPHA101088
MedGen 41 C0398689
UMLS 70 C0272236 C0398689

Summaries for Immunodeficiency with Hyper-Igm, Type 1

GARD : 20 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 gene mutation involved.

MalaCards based summary : Immunodeficiency with Hyper-Igm, Type 1, also known as hyper igm syndrome, is related to immunoglobulin g deficiency and immunodeficiency with hyper-igm, type 5, 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 Innate Immune System and PEDF Induced Signaling. The drugs Immunoglobulins, Intravenous and gamma-Globulins have been mentioned in the context of this disorder. Affiliated tissues include b cells, bone marrow and bone, and related phenotypes are failure to thrive and hepatitis

Disease Ontology : 12 A hyperimmunoglobin syndrome that is characterized by an immune system that fails to produce normal levels of the antibodies IgA, IgG and IgE but can produce normal or elevated levels of IgM.

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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 Hyper IgM syndrome describes a group of primary immune deficiency disorders characterized by defective... 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 435)
# Related Disease Score Top Affiliating Genes
1 immunoglobulin g deficiency 32.4 IGHE CD79A CD40LG
2 immunodeficiency with hyper-igm, type 5 31.6 UNG TNFRSF13B CD40LG CD40 AICDA
3 immunodeficiency with hyper-igm, type 4 31.6 UNG CD40LG CD40 CD27 AICDA
4 cd40 ligand deficiency 31.5 TNFRSF13B IKBKG ICOSLG CD40LG CD40 CD4
5 immunodeficiency with hyper-igm, type 3 31.4 IKBKG ICOSLG CD40LG CD40 CD4 AICDA
6 light fixation seizure syndrome 31.3 CD40LG CD40
7 combined immunodeficiency 30.8 RAG1 IL4 IKBKG ICOSLG CD40LG CD40
8 cryptococcosis 30.7 IL4 CD4 CCR6
9 toxoplasmosis 30.7 IL4 CD79A CD40LG CD40
10 congenital rubella 30.6 UNG CD40LG
11 cryptosporidiosis 30.6 CD79A CD40LG CD4
12 otitis media 30.6 IL4 IGHE CD79A
13 bacterial infectious disease 30.4 ICOSLG H2AC18 CD4 CCR6 BTK
14 meningoencephalitis 30.4 CD79A CD40LG CD4 CCR6
15 immunodeficiency 14 30.4 CD4 CD27 BTK
16 selective igg deficiency disease 30.4 TNFRSF13B CD19
17 dysgammaglobulinemia 30.3 TNFRSF13B ICOSLG CD79A
18 immunodeficiency with hyper-igm, type 2 30.3 UNG TNFRSF13B RAG1 IGHV4-38-2 ICOSLG H2AC18
19 poliomyelitis 30.3 IL4 CD4 BTK
20 progressive multifocal leukoencephalopathy 30.3 RAG1 ICOSLG CD40LG CD4 CCR6
21 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 30.3 IL4 IKBKG H2AC18 CD4
22 respiratory failure 30.2 TNFRSF13B H2AC18 CD4 CCR6
23 lymphadenitis 30.2 ICOSLG CD4 CCR6
24 pneumocystosis 30.2 CD40LG CD4 CCR6 BTK
25 acute cystitis 30.2 H2AC18 CD4 CCR6
26 mycobacterium tuberculosis 1 30.1 IL4 ICOSLG H2AC18 CD4 CCR6
27 agammaglobulinemia 30.1 TNFRSF13B RAG1 ICOSLG CD79A CD40LG CD40
28 allergic disease 30.0 IL4 IGHE ICOSLG CD40 CD27 CCR6
29 crohn's disease 30.0 IL4 ICOSLG CD40 CD4 CCR6
30 diffuse large b-cell lymphoma 30.0 CD79A CD40 CD19 BTK AICDA
31 burkitt lymphoma 29.9 IL4 CD40LG CD40 CD19 AICDA
32 primary biliary cholangitis 29.8 ICOSLG H2AC18 CD79A CD40LG CD4 CCR6
33 systemic scleroderma 29.8 IL4 ICOSLG H2AC18 CD40LG CD4 CCR6
34 viral infectious disease 29.8 IL4 ICOSLG H2AC18 CD40LG CD4 CCR6
35 thrombocytopenia due to platelet alloimmunization 29.8 TNFRSF13B ICOSLG CD4 CD19 CCR6
36 severe combined immunodeficiency 29.6 RAG1 IL4 CD27 CD19
37 t cell deficiency 29.6 RAG1 ICOSLG CD4 CD27 CD19 CCR6
38 anemia, autoimmune hemolytic 29.6 IGHV4-38-2 ICOSLG CD40LG CD4 CD19 CCR6
39 chickenpox 29.6 IL4 ICOSLG CD4 CD27 CD19 CCR6
40 autoimmune lymphoproliferative syndrome 29.6 RAG1 ICOSLG H2AC18 CD4 CD27 CD19
41 deficiency anemia 29.3 IKBKG ICOSLG HPRT1 H2AC18 CD4 CD19
42 common variable immunodeficiency 29.3 TNFRSF13B RAG1 IL4 ICOSLG CD79A CD40LG
43 agammaglobulinemia, x-linked 29.2 TNFRSF13B RAG1 ICOSLG CD79A CD40LG CD40
44 leukemia, acute myeloid 29.0 IL4 IGHV4-38-2 ICOSLG H2AC18 CD79A CD4
45 immunoglobulin alpha deficiency 29.0 TNFRSF13B ICOSLG CD79A CD40LG CD40 CD4
46 systemic lupus erythematosus 28.9 TNFRSF13B IL4 ICOSLG H2AC18 CD79A CD40LG
47 omenn syndrome 28.4 RAG1 IL4 IKBKG IGHV4-38-2 IGHE ICOSLG
48 b cell deficiency 28.3 TNFRSF13B RAG1 IL4 IGHV4-38-2 ICOSLG CD40LG
49 immune deficiency disease 27.7 UNG TNFRSF13B RAG1 IL4 IKBKG ICOSLG
50 ectodermal dysplasia and immunodeficiency 1 11.8

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

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

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 very rare (1%) HP:0001508
2 hepatitis 31 very rare (1%) HP:0012115
3 cirrhosis 31 very rare (1%) HP:0001394
4 meningitis 31 very rare (1%) HP:0001287
5 neutropenia 31 very rare (1%) HP:0001875
6 sepsis 31 very rare (1%) HP:0100806
7 diarrhea 31 very rare (1%) HP:0002014
8 oral ulcer 31 very rare (1%) HP:0000155
9 recurrent lower respiratory tract infections 31 very rare (1%) HP:0002783
10 sclerosing cholangitis 31 very rare (1%) HP:0030991
11 splenomegaly 31 HP:0001744
12 hepatomegaly 31 HP:0002240
13 immunodeficiency 31 HP:0002721
14 thrombocytopenia 31 HP:0001873
15 hemolytic anemia 31 HP:0001878
16 gingivitis 31 HP:0000230
17 decreased circulating iga level 31 HP:0002720
18 decreased circulating igg level 31 HP:0004315
19 recurrent bacterial infections 31 HP:0002718
20 increased circulating igm level 31 HP:0003496
21 dysgammaglobulinemia 31 HP:0002961
22 chronic hepatitis 31 HP:0200123
23 decreased t cell activation 31 HP:0005419
24 stomatitis 31 HP:0010280
25 enlarged tonsils 31 HP:0030812
26 absence of lymph node germinal center 31 HP:0002849
27 decreased circulating ige 31 HP:0005479
28 impaired memory b cell generation 31 HP:0002847
29 impaired ig class switch recombination 31 HP:0002959

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Spleen:
splenomegaly

Immunology:
immunodeficiency
dysgammaglobulinemia
decreased t cell activation
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:
thrombocytopenia
hemolytic anemia
neutropenia, chronic or cyclic
amemia

Abdomen Gastrointestinal:
diarrhea
proctitis

Clinical features from OMIM®:

308230 (Updated 05-Apr-2021)

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 10.28 AICDA BTK CCR6 CD19 CD27 CD4
2 homeostasis/metabolism MP:0005376 10.24 AICDA APOBEC1 BTK CCR6 CD19 CD4
3 cellular MP:0005384 10.23 AICDA BTK CD19 CD27 CD4 CD40LG
4 immune system MP:0005387 10.2 AICDA BTK CCR6 CD19 CD27 CD4
5 digestive/alimentary MP:0005381 10.03 AICDA BTK CD19 CD4 HPRT1 IKBKG
6 integument MP:0010771 9.91 AICDA BTK CD19 CD4 CD40LG HPRT1
7 neoplasm MP:0002006 9.81 AICDA BTK CD19 CD79A HPRT1 IKBKG
8 normal MP:0002873 9.73 AICDA APOBEC1 CCR6 CD19 CD4 CD40
9 renal/urinary system MP:0005367 9.23 CD19 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 55)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins, Intravenous Phase 4
2 gamma-Globulins Phase 4
3 Rho(D) Immune Globulin Phase 4
4 Immunoglobulins Phase 4
5 Antibodies Phase 4
6 Immunologic Factors Phase 4
7 Vaccines Phase 2
8
Mesna Approved, Investigational 3375-50-6 598
9
Fludarabine Approved 21679-14-1, 75607-67-9 30751
10
Vidarabine Approved, Investigational 24356-66-9 21704 32326
11
Melphalan Approved 148-82-3 4053 460612
12
alemtuzumab Approved, Investigational 216503-57-0
13
Methylprednisolone Approved, Vet_approved 83-43-2 6741
14
Prednisolone Approved, Vet_approved 50-24-8 5755
15
Etoposide Approved 33419-42-0 36462
16
Methylprednisolone hemisuccinate Approved 2921-57-5
17
Methotrexate Approved 1959-05-2, 59-05-2 126941
18
Levoleucovorin Approved, Investigational 68538-85-2 149436
19
Prednisolone phosphate Approved, Vet_approved 302-25-0
20
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
21
Busulfan Approved, Investigational 55-98-1 2478
22
Prednisone Approved, Vet_approved 53-03-2 5865
23
Clotrimazole Approved, Vet_approved 23593-75-1 2812
24
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
25
Prednisolone acetate Approved, Vet_approved 52-21-1
26
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
27
Prednisolone hemisuccinate Experimental 2920-86-7
28 Antineoplastic Agents, Immunological
29 Antiviral Agents
30 Vitamin B9
31 Neuroprotective Agents
32 Complement System Proteins
33 Immunosuppressive Agents
34 Alkylating Agents
35 Antimetabolites
36 Gastrointestinal Agents
37 Methylprednisolone Acetate
38 Folic Acid Antagonists
39 Etoposide phosphate
40 Cyclosporins
41 Antirheumatic Agents
42 Anti-Infective Agents
43 glucocorticoids
44 Hormone Antagonists
45 Vitamin B Complex
46 Dermatologic Agents
47 Folate
48 Antilymphocyte Serum
49 Antineoplastic Agents, Hormonal
50 Hormones

Interventional clinical trials:

(show all 13)
# 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 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
3 Study of Immune Responses and Safety of Recombinant CD40 Ligand in Patients With X-Linked Hyper IgM Syndrome Completed NCT00001145 Phase 2 Bacteriophage;rhuCD40L;KLH
4 Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders Unknown status NCT00004341
5 Evaluation of the Effectiveness of a Collaborative Strategy to Increase the Screening of Colorectal Cancer in the Public Healthcare Sector in Argentina Unknown status NCT04293315
6 Learn, Engage, Act, Process (LEAP) for Personalized Weight Management Support (QUE 15-286) Completed NCT02825680
7 Safe Critical Care: Testing Improvement Strategies Completed NCT00975923
8 Evaluation of a Multi-modal Network to Spread an Enhanced SSI Prevention Bundle Completed NCT02886741
9 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092 Alemtuzumab 0.3 mg;Cyclophosphamide;Busulfan;Fludarabine phosphate 40 mg;Melphalan;Alemtuzumab 0.2 mg;Busulfan;Fludarabine phosphate 30 mg;MESNA
10 Optimizing Function and Independence Through iHI-FIVES (QUE 16-170) Active, not recruiting NCT03474380
11 Improving Quality and Value of Multiple Sclerosis Care at the Microsystem Level: The Multiple Sclerosis Continuous Quality Improvement (MSCQI) Collaborative Active, not recruiting NCT03480854
12 Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States Terminated NCT00266513
13 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 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 Hyper-Igm Syndrome Type 1 29 CD40LG
2 Immunodeficiency, X-Linked, with Hyper-Igm 29

Anatomical Context for Immunodeficiency with Hyper-Igm, Type 1

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

40
B Cells, Bone Marrow, Bone, T Cells, Liver, Lymph Node, Lung

Publications for Immunodeficiency with Hyper-Igm, Type 1

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

(show top 50) (show all 519)
# Title Authors PMID Year
1
The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome. 54 61 6 57
7678782 1993
2
Mapping of the X-linked form of hyper-IgM syndrome (HIGM1) to Xq26 by close linkage to HPRT. 6 57 61 54
1427881 1992
3
A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome. 6 57 61
8550833 1996
4
Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM. 6 57 54
7679206 1993
5
CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. 6 57 61
7679801 1993
6
Identification of a CD40L gene mutation and genetic counselling in a family with immunodeficiency with hyperimmunoglobulinemia M. 57 6
7586644 1995
7
Clinical and laboratory findings in hyper-IgM syndrome with novel CD40L and AICDA mutations. 61 6 54
19575287 2009
8
CD154 variants associated with hyper-IgM syndrome can form oligomers and trigger CD40-mediated signals. 61 54 6
10559240 1999
9
2 A crystal structure of an extracellular fragment of human CD40 ligand. 61 54 6
8589998 1995
10
CD40 ligand (CD40L) expression and B cell function in agammaglobulinemia with normal or elevated levels of IgM (HIM). Comparison of X-linked, autosomal recessive, and non-X-linked forms of the disease, and obligate carriers. 6 61 54
7916370 1994
11
Mapping of the X linked form of hyper IgM syndrome (HIGM1) 61 57 54
8097258 1993
12
Hyper IgM Syndrome: a Report from the USIDNET Registry. 61 6
27189378 2016
13
c.761C>T Mutation Linked Hyper IgM Syndrome Presenting with Hypertransaminasemia and Arthritis. 61 6
25541662 2014
14
First report of the Hyper-IgM syndrome Registry of the Latin American Society for Immunodeficiencies: novel mutations, unique infections, and outcomes. 6 61
24402618 2014
15
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. 61 6
20981468 2010
16
Clinical and molecular characterization of X-linked hyper-IgM syndrome patients in China. 6 61
20591076 2010
17
Cerebral toxoplasmosis in a middle-aged man as first presentation of primary immunodeficiency due to a hypomorphic mutation in the CD40 ligand gene. 6 61
18955577 2008
18
X-linked hyper-IgM syndrome associated with a rapid course of multifocal leukoencephalopathy. 57 61
17296845 2007
19
Autoimmune retinopathy with RPE hypersensitivity and 'negative ERG' in X-linked hyper-IgM syndrome. 61 6
16019685 2005
20
Mutational screening of the CD40 ligand (CD40L) gene in patients with X linked hyper-IgM syndrome (XHIM) and determination of carrier status in female relatives. 61 6
15623492 2005
21
X-linked hyper IgM (HIGM1) in an African kindred: the first report from South Africa. 61 6
14641931 2003
22
Correction of the hyper-IgM syndrome after liver and bone marrow transplantation. 57 61
10655530 2000
23
An aggressive form of polyarticular arthritis in a man with CD154 mutation (X-linked hyper-IgM syndrome). 61 6
10366125 1999
24
Enteroviral meningoencephalitis as a complication of X-linked hyper IgM syndrome. 61 57
10228294 1999
25
Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome. 6 61
9746782 1998
26
Clinical spectrum of X-linked hyper-IgM syndrome. 61 57
9255191 1997
27
Classification of mutations in the human CD40 ligand, gp39, that are associated with X-linked hyper IgM syndrome. 6 61
16509032 1996
28
Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome. 61 6
8889581 1996
29
Brief report: correction of X-linked hyper-IgM syndrome by allogeneic bone marrow transplantation. 61 57
7542361 1995
30
The random inactivation of the X chromosome carrying the defective gene responsible for X-linked hyper IgM syndrome (X-HIM) in female carriers of HIGM1. 61 57
7518839 1994
31
Mice deficient for the CD40 ligand. 61 57
7882172 1994
32
X inactivation and immunocompetence in female carriers of the X-linked hyper-IgM syndrome. 61 57
8040297 1994
33
Defective expression of CD40 ligand on T cells causes "X-linked immunodeficiency with hyper-IgM (HIGM1)". 57 54
7915248 1994
34
C to T mutation causing premature termination of CD40 ligand at amino acid 221 in a patient affected by hyper IgM syndrome. 6 61
7906987 1994
35
CD40 ligand mutations in x-linked immunodeficiency with hyper-IgM. 6 61
8094231 1993
36
Immunologic studies of three family members with the immunodeficiency with hyper-IgM syndrome. 61 57
6602145 1983
37
Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics. 6
29077208 2018
38
Human CD19 and CD40L deficiencies impair antibody selection and differentially affect somatic hypermutation. 57
24418477 2014
39
Whole-exome sequence analysis of ataxia telangiectasia-like phenotype. 57
24631270 2014
40
Cholangiocarcinoma complicating secondary sclerosing cholangitis from cryptosporidiosis in an adult patient with CD40 ligand deficiency: case report and review of the literature. 6
22678466 2012
41
Neuroendocrine carcinoma associated with X-linked hyper-immunoglobulin M syndrome: report of four cases and review of the literature. 6
18805740 2008
42
Clinical follow-up of 11 Argentinian CD40L-deficient patients with 7 unique mutations including the so-called "milder" mutants. 6
17351759 2007
43
HIGM syndrome caused by insertion of an AluYb8 element in exon 1 of the CD40LG gene. 6
17146684 2007
44
ICOS deficiency is associated with a severe reduction of CXCR5+CD4 germinal center Th cells. 57
16982935 2006
45
Critical function of the CD40 pathway in parvovirus B19 infection revealed by a hypomorphic CD40 ligand mutation. 6
16169277 2005
46
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. 6
15924140 2005
47
Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome. 6
15358621 2005
48
CD40L stabilizes arterial thrombi by a beta3 integrin--dependent mechanism. 57
11875495 2002
49
CD40-CD40L independent Ig gene hypermutation suggests a second B cell diversification pathway in humans. 6
11158612 2001
50
T-cell-depleted bone marrow transplantation from unrelated donor for [correction of allogeneic sibling for] X-linked hyperimmunoglobulin M syndrome. 57
10931436 2000

Variations for Immunodeficiency with Hyper-Igm, Type 1

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

6 (show top 50) (show all 90)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CD40LG NM_000074.2(CD40LG):c.703G>C (p.Ala235Pro) SNV Pathogenic 11157 rs104894771 GRCh37: X:135741491-135741491
GRCh38: X:136659332-136659332
2 CD40LG NM_000074.2(CD40LG):c.384T>A (p.Ser128Arg) SNV Pathogenic 11158 rs104894773 GRCh37: X:135738552-135738552
GRCh38: X:136656393-136656393
3 CD40LG NM_000074.2(CD40LG):c.680G>T (p.Gly227Val) SNV Pathogenic 11159 rs104894768 GRCh37: X:135741468-135741468
GRCh38: X:136659309-136659309
4 CD40LG NM_000074.2(CD40LG):c.464T>C (p.Leu155Pro) SNV Pathogenic 11160 rs104894769 GRCh37: X:135741252-135741252
GRCh38: X:136659093-136659093
5 CD40LG NM_000074.2(CD40LG):c.419G>A (p.Trp140Ter) SNV Pathogenic 11163 rs104894775 GRCh37: X:135741207-135741207
GRCh38: X:136659048-136659048
6 CD40LG CD40LG, 8-BP DEL Deletion Pathogenic 11166 GRCh37:
GRCh38:
7 CD40LG CD40LG, 10-BP DEL Deletion Pathogenic 11167 GRCh37:
GRCh38:
8 CD40LG NM_000074.2(CD40LG):c.368C>A (p.Ala123Glu) SNV Pathogenic 11168 rs104894778 GRCh37: X:135738536-135738536
GRCh38: X:136656377-136656377
9 CD40LG CD40LG, 1-BP INS, TTT-TTTT, FS84TER Insertion Pathogenic 11169 GRCh37:
GRCh38:
10 CD40LG CD40LG, ALU INS, EX1 Insertion Pathogenic 11170 GRCh37:
GRCh38:
11 CD40LG NM_000074.2(CD40LG):c.421G>C (p.Ala141Pro) SNV Pathogenic 430909 rs1387503550 GRCh37: X:135741209-135741209
GRCh38: X:136659050-136659050
12 CD40LG NM_000074.2(CD40LG):c.304_314del (p.Lys102fs) Deletion Pathogenic 566114 rs1569376925 GRCh37: X:135736545-135736555
GRCh38: X:136654386-136654396
13 CD40LG NC_000023.11:g.(?_136654353)_(136654450_?)del Deletion Pathogenic 639868 GRCh37: X:135736512-135736609
GRCh38: X:136654353-136654450
14 CD40LG NC_000023.11:g.(?_136648058)_(136659435_?)del Deletion Pathogenic 660153 GRCh37: X:135730217-135741594
GRCh38: X:136648058-136659435
15 CD40LG NM_000074.3(CD40LG):c.359del (p.Pro120fs) Deletion Pathogenic 830068 rs1603321138 GRCh37: X:135738526-135738526
GRCh38: X:136656367-136656367
16 CD40LG NC_000023.11:g.(?_136648058)_(136654450_?)del Deletion Pathogenic 831629 GRCh37: X:135730217-135736609
GRCh38:
17 CD40LG NM_000074.3(CD40LG):c.386del (p.Glu129fs) Deletion Pathogenic 846264 GRCh37: X:135738554-135738554
GRCh38: X:136656395-136656395
18 CD40LG NM_000074.3(CD40LG):c.508dup (p.Tyr170fs) Duplication Pathogenic 854923 GRCh37: X:135741294-135741295
GRCh38: X:136659135-136659136
19 CD40LG NM_000074.3(CD40LG):c.401del (p.Thr134fs) Deletion Pathogenic 863227 GRCh37: X:135738569-135738569
GRCh38: X:136656410-136656410
20 CD40LG NM_000074.3(CD40LG):c.694C>T (p.Gln232Ter) SNV Pathogenic 934686 GRCh37: X:135741482-135741482
GRCh38: X:136659323-136659323
21 CD40LG NM_000074.3(CD40LG):c.556C>T (p.Gln186Ter) SNV Pathogenic 954151 GRCh37: X:135741344-135741344
GRCh38: X:136659185-136659185
22 CD40LG NM_000074.3(CD40LG):c.133del (p.Tyr45fs) Deletion Pathogenic 962343 GRCh37: X:135730540-135730540
GRCh38: X:136648381-136648381
23 CD40LG NM_000074.3(CD40LG):c.770G>A (p.Gly257Asp) SNV Pathogenic 963550 GRCh37: X:135741558-135741558
GRCh38: X:136659399-136659399
24 CD40LG NM_000074.3(CD40LG):c.418T>C (p.Trp140Arg) SNV Pathogenic 976233 GRCh37: X:135741206-135741206
GRCh38: X:136659047-136659047
25 CD40LG NM_000074.2(CD40LG):c.418T>G (p.Trp140Gly) SNV Pathogenic 11164 rs104894777 GRCh37: X:135741206-135741206
GRCh38: X:136659047-136659047
26 CD40LG CD40LG, THR211ASP Variation Pathogenic 11161 GRCh37:
GRCh38:
27 CD40LG NM_000074.3:c.347_409del Deletion Pathogenic 11165 GRCh37:
GRCh38:
28 CD40LG NM_000074.2(CD40LG):c.31C>T (p.Arg11Ter) SNV Pathogenic 35812 rs193922135 GRCh37: X:135730438-135730438
GRCh38: X:136648279-136648279
29 CD40LG NM_000074.2(CD40LG):c.761C>T (p.Thr254Met) SNV Pathogenic 35814 rs193922136 GRCh37: X:135741549-135741549
GRCh38: X:136659390-136659390
30 CD40LG NM_000074.2(CD40LG):c.761C>T (p.Thr254Met) SNV Pathogenic 35814 rs193922136 GRCh37: X:135741549-135741549
GRCh38: X:136659390-136659390
31 CD40LG NM_000074.3(CD40LG):c.474del (p.Lys159fs) Deletion Pathogenic 860268 GRCh37: X:135741260-135741260
GRCh38: X:136659101-136659101
32 CD40LG NM_000074.3(CD40LG):c.347-1G>A SNV Pathogenic 928859 GRCh37: X:135738514-135738514
GRCh38: X:136656355-136656355
33 CD40LG NM_000074.3(CD40LG):c.340C>T (p.Gln114Ter) SNV Likely pathogenic 984484 GRCh37: X:135736583-135736583
GRCh38: X:136654424-136654424
34 CD40LG NM_000074.2(CD40LG):c.761C>A (p.Thr254Lys) SNV Likely pathogenic 530671 rs193922136 GRCh37: X:135741549-135741549
GRCh38: X:136659390-136659390
35 CD40LG NM_000074.2(CD40LG):c.520C>T (p.Gln174Ter) SNV Likely pathogenic 650284 rs1603321772 GRCh37: X:135741308-135741308
GRCh38: X:136659149-136659149
36 CD40LG NC_000023.11:g.(?_136650246)_(136654450_?)del Deletion Likely pathogenic 530674 GRCh37: X:135732405-135736609
GRCh38: X:136650246-136654450
37 CD40LG NM_000074.2(CD40LG):c.189del (p.Phe63fs) Deletion Likely pathogenic 35811 rs193922134 GRCh37: X:135732454-135732454
GRCh38: X:136650295-136650295
38 CD40LG NM_000074.2(CD40LG):c.632C>A (p.Thr211Asn) SNV Likely pathogenic 633145 rs1569377829 GRCh37: X:135741420-135741420
GRCh38: X:136659261-136659261
39 CD40LG NM_000074.2(CD40LG):c.288+1G>A SNV Likely pathogenic 633147 rs1569376229 GRCh37: X:135732557-135732557
GRCh38: X:136650398-136650398
40 CD40LG NM_000074.2(CD40LG):c.661C>T (p.Gln221Ter) SNV Likely pathogenic 660932 rs1603321834 GRCh37: X:135741449-135741449
GRCh38: X:136659290-136659290
41 CD40LG NM_000074.2(CD40LG):c.322_325delGAAA Microsatellite Likely pathogenic 568935 rs1569376930 GRCh37: X:135736559-135736562
GRCh38: X:136654400-136654403
42 CD40LG NM_000074.2(CD40LG):c.107T>G (p.Met36Arg) SNV Likely pathogenic 11162 rs104894774 GRCh37: X:135730514-135730514
GRCh38: X:136648355-136648355
43 AICDA NM_020661.4(AICDA):c.*1453_*1454insG Insertion Uncertain significance 310551 rs201738977 GRCh37: 12:8755426-8755427
GRCh38: 12:8602830-8602831
44 UNG NM_080911.3(UNG):c.*500C>G SNV Uncertain significance 306985 rs780337127 GRCh37: 12:109548274-109548274
GRCh38: 12:109110469-109110469
45 AICDA NM_020661.4(AICDA):c.428-4_428-3insT Insertion Uncertain significance 310577 rs755095913 GRCh37: 12:8757521-8757522
GRCh38: 12:8604925-8604926
46 UNG NM_080911.3(UNG):c.*866_*867AT[5] Microsatellite Uncertain significance 306996 rs56185014 GRCh37: 12:109548640-109548645
GRCh38: 12:109110835-109110840
47 CD40 NM_001250.6(CD40):c.647-4_647-3dup Duplication Uncertain significance 338575 rs749590513 GRCh37: 20:44756943-44756944
GRCh38: 20:46128304-46128305
48 CD40 NM_001250.6(CD40):c.*119C>T SNV Uncertain significance 338578 rs746182207 GRCh37: 20:44757798-44757798
GRCh38: 20:46129159-46129159
49 CD40 NM_001250.6(CD40):c.*216A>C SNV Uncertain significance 338581 rs886056719 GRCh37: 20:44757895-44757895
GRCh38: 20:46129256-46129256
50 CD40 NM_001250.6(CD40):c.*338A>G SNV Uncertain significance 338584 rs886056721 GRCh37: 20:44758017-44758017
GRCh38: 20:46129378-46129378

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

72 (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 rs156937782
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 rs156937788
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 rs147746621

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 29)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 TNFRSF13B RAG1 IL4 IKBKG IGHE ICOSLG
2
Show member pathways
13.62 TNFRSF13B IL4 IKBKG CD40LG CD40 CD4
3
Show member pathways
13.39 IKBKG ICOSLG CD79A CD40LG CD40 CD4
4
Show member pathways
13.31 TNFRSF13B IL4 IKBKG CD40LG CD40 CD4
5
Show member pathways
13.24 TNFRSF13B RAG1 IL4 IKBKG IGHE CD40LG
6
Show member pathways
13.12 TNFRSF13B IL4 IKBKG CD40LG CD40 CD4
7
Show member pathways
12.65 TNFRSF13B IL4 ICOSLG CD40LG CD40 CD4
8
Show member pathways
12.6 IKBKG CD40LG CD40 CD4 CD27
9
Show member pathways
12.52 TNFRSF13B IKBKG CD40LG CD40 CD27
10
Show member pathways
12.44 IL4 IKBKG IGHE CD79A CD19 BTK
11
Show member pathways
12.37 CD40 CD4 CD19 BTK
12 12.37 RAG1 IL4 IKBKG CD79A CD40LG CD19
13
Show member pathways
12.33 IKBKG CD79A CD19 BTK
14
Show member pathways
12.31 IKBKG ICOSLG CD40LG CD40 CD4
15
Show member pathways
12.19 IL4 IKBKG CD40LG CD40
16
Show member pathways
12.17 IL4 IKBKG IGHE ICOSLG CD79A CD40LG
17 12.07 ICOSLG CD40LG CD40 CD4
18 11.94 IL4 CD79A CD4 CD19
19
Show member pathways
11.88 IGHE CD79A CD19 BTK
20 11.87 IKBKG CD40LG CD40 BTK
21
Show member pathways
11.74 TNFRSF13B CD40LG CD40 CD27
22 11.71 IL4 CD4 CCR6
23
Show member pathways
11.66 TNFRSF13B IKBKG CD40LG CD40
24 11.56 IL4 IGHE CD40LG AICDA
25 11.45 TNFRSF13B IL4 ICOSLG CD40LG CD40 CCR6
26 11.28 IL4 CD40LG CD40
27 11.22 IL4 CD40LG CD40
28 10.94 UNG TNFRSF13B RAG1 IKBKG CD79A CD40LG
29 10.58 IKBKG CD40

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 integral component of plasma membrane GO:0005887 9.7 TNFRSF13B CD40LG CD40 CD4 CD27 CD19
2 external side of plasma membrane GO:0009897 9.32 IGHV4-38-2 IGHE ICOSLG CD79A CD40LG CD40
3 membrane raft GO:0045121 9.26 CD79A CD4 CD19 BTK

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.97 TNFRSF13B IGHE ICOSLG CD79A CD40 CD4
2 immune response GO:0006955 9.87 RAG1 IL4 IKBKG IGHE CD40LG CD4
3 regulation of immune response GO:0050776 9.84 IL4 CD40LG CD40 CD19
4 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.81 IKBKG CD40LG CD40 BTK
5 tumor necrosis factor-mediated signaling pathway GO:0033209 9.73 TNFRSF13B CD40LG CD40 CD27
6 positive regulation of T cell proliferation GO:0042102 9.7 IL4 CD40LG CD4
7 T cell activation GO:0042110 9.67 IL4 ICOSLG CD4
8 B cell proliferation GO:0042100 9.65 CD79A CD40LG CD40
9 B cell receptor signaling pathway GO:0050853 9.65 IGHV4-38-2 IGHE CD79A CD19 BTK
10 immunoglobulin mediated immune response GO:0016064 9.61 CD27 CD19
11 positive regulation of B cell differentiation GO:0045579 9.61 CD27 BTK
12 cytidine to uridine editing GO:0016554 9.6 APOBEC1 AICDA
13 cytidine deamination GO:0009972 9.59 APOBEC1 AICDA
14 DNA cytosine deamination GO:0070383 9.58 APOBEC1 AICDA
15 negative regulation of T cell apoptotic process GO:0070233 9.58 RAG1 CD27
16 positive regulation of T cell differentiation GO:0045582 9.58 RAG1 IL4 CD27
17 positive regulation of isotype switching to IgG isotypes GO:0048304 9.57 IL4 CD40
18 CD40 signaling pathway GO:0023035 9.56 CD40LG CD40
19 adaptive immune response GO:0002250 9.56 TNFRSF13B RAG1 IGHE ICOSLG CD79A CD4
20 regulation of immunoglobulin production GO:0002637 9.55 CD40LG CD40
21 B cell differentiation GO:0030183 9.55 RAG1 IL4 CD79A CD40LG AICDA
22 negative regulation of methylation-dependent chromatin silencing GO:0090310 9.46 APOBEC1 AICDA
23 B cell activation GO:0042113 9.02 IL4 ICOSLG CD79A CD40 BTK

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

# Name GO ID Score Top Affiliating Genes
1 signaling receptor activity GO:0038023 9.26 TNFRSF13B CD40 CD4 CCR6
2 identical protein binding GO:0042802 9.23 RAG1 IKBKG ICOSLG HPRT1 CD79A CD4
3 cytidine deaminase activity GO:0004126 9.16 APOBEC1 AICDA

Sources for Immunodeficiency with Hyper-Igm, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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