Gene Summary

Name:
nuclear factor of kappa light polypeptide gene enhancer in B cells 1, p105
Synonyms:
p50/p105,  p50,  NF-kappaB,  NF-kappaB p50,  p50 subunit of NF kappaB,  nuclear factor kappaB p50,  NF kappaB1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal skin condition Nfkb1tm1a(KOMP)Wtsi HOM Early adult 1.49×10-05
decreased circulating serum albumin level Nfkb1tm1a(KOMP)Wtsi HOM Early adult 3.96×10-05
increased circulating LDL cholesterol level Nfkb1tm1a(KOMP)Wtsi HOM Early adult 1.45×10-07
decreased mean corpuscular hemoglobin Nfkb1tm1a(KOMP)Wtsi HOM Early adult 4.93×10-06
increased lactate dehydrogenase level Nfkb1tm1a(KOMP)Wtsi HOM Early adult 2.42×10-05
abnormal cornea morphology Nfkb1tm1a(KOMP)Wtsi HOM Early adult 7.24×10-08
decreased lean body mass Nfkb1tm1a(KOMP)Wtsi HOM Early adult 3.49×10-05
decreased circulating sodium level Nfkb1tm1a(KOMP)Wtsi HOM Early adult 5.87×10-07
increased circulating alkaline phosphatase level Nfkb1tm1a(KOMP)Wtsi HOM   Early adult 1.96×10-05
increased circulating alanine transaminase level Nfkb1tm1a(KOMP)Wtsi HOM Early adult 6.64×10-05
increased leukocyte cell number Nfkb1tm1a(KOMP)Wtsi HOM Early adult 3.96×10-19
increased circulating free fatty acids level Nfkb1tm1a(KOMP)Wtsi HOM   Early adult 5.38×10-05
abnormal coat/hair pigmentation Nfkb1tm1a(KOMP)Wtsi HOM   Early adult 4.28×10-06
decreased body length Nfkb1tm1a(KOMP)Wtsi HOM   Early adult 8.95×10-05

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 50% (1 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 50% (1 of 2)
Gall bladder N/A heterozygote 50% (1 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 50% (1 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 50% (1 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images

View all 166 images

Human diseases caused by Nfkb1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Nfkb1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent infections, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia... OMIM:616576
Common Variable Immunodeficiency
Emphysema, Restrictive ventilatory defect, Pneumonia, Abnormality of the liver, Autoimmune thromb... ORPHA:1572

The table below shows human diseases predicted to be associated to Nfkb1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Lymphopenia, Abnormal T cell morphology, Decreased circulating I... OMIM:247630
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia, Recurrent bacterial infections, Recurrent can... OMIM:242870
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Persistent viremi... OMIM:615897
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Recurrent otitis media, Agammaglobulinemia,... OMIM:613500
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Recurrent bacterial infections, Decreased circulating IgA level,... OMIM:605258
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Abse... OMIM:606843
Lymphoproliferative Syndrome 3
Recurrent infections, Hepatosplenomegaly, Severe varicella zoster infection, Decreased circulatin... OMIM:618261
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Recurrent infections, Decreased specific antibody response to po... OMIM:616452
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl... OMIM:618987
Immunodeficiency, Common Variable, 7
Recurrent infections, Decreased specific pneumococcal antibody level, Decreased circulating total... OMIM:614699
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Chronic decreased circulating total IgG, Recurrent otitis media,... OMIM:613493
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Pneumonia, Decrease... OMIM:607594
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, Pn... OMIM:607271
Immunodeficiency 20
Recurrent oral herpes, Recurrent otitis media, BCGitis, Reduced natural killer cell activity, Rec... OMIM:615707
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Recurrent bacterial infections,... OMIM:608106
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Decreased circulating IgG level, Recurre... OMIM:613502
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Recurrent respiratory infec... OMIM:615615
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia, Transient n... OMIM:619707
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Recurrent infection of the gastrointestinal tract, Decreased circ... OMIM:609529
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Pneumonia,... OMIM:300400
Immunodeficiency 72 With Autoinflammation
Recurrent otitis media, Recurrent infections, Hepatosplenomegaly, Increased circulating IgG level... OMIM:618982
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:612692
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:240500
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Leukocytos... OMIM:619281
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, T lymphocytopenia, Recurrent upper respiratory tract infections, Recurrent otitis medi... ORPHA:277
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Increased circul... OMIM:618495
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Recurrent infections, Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Increased circ... OMIM:615285
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Autoimmune hemolytic anemia, Lymphopenia, Diarrhea, Recurrent up... OMIM:616100
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections, Recurrent bronchitis,... OMIM:613501
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent abscess formation, Decreased circulating IgG level, Decreased proportion of CD3-positiv... ORPHA:169160
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased circulating total IgM, Crohn's disease, Decreased circulating IgG level, ... OMIM:618394
Immunodeficiency 48
Pneumonia, Splenomegaly, Hepatomegaly, Eczematoid dermatitis, Panhypogammaglobulinemia, Recurrent... OMIM:269840
Immunodeficiency 61
Recurrent otitis media, Colon cancer, Agammaglobulinemia, Recurrent bacterial infections, Frequen... OMIM:300310
Immunoglobulin A Deficiency 1
Recurrent infections, Decreased circulating IgA level, Recurrent respiratory infections, Recurren... OMIM:137100
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Transcobalamin Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... ORPHA:859
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Abnormal immunoglo... ORPHA:276
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM OMIM:610798
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Onychomycosis, Deep dermatophytosis, Meningitis, Chronic tinea infection, Lymp... OMIM:212050
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Crohn's disease, Mucoid diarrhea, Inflammation of the large inte... OMIM:615767
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent oral herpes, Recurrent otitis media, Increased circulating IgG level, Persistent CMV vi... OMIM:619220
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:169154
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level, Recurrent infections, Diarrhea OMIM:614102
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Recurrent infections, Recurrent skin infections, Erythema nodosum, Hemophagocytosis... OMIM:300635
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Recurrent ... OMIM:613494
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent upper respiratory tract infect... OMIM:618944
Immunodeficiency 64
Decreased circulating IgG level, Recurrent infections, Hepatosplenomegaly, Increased circulating ... OMIM:618534
Immunodeficiency 70
Decreased circulating total IgM, Achalasia, Colitis, Decreased circulating total IgG, Decreased p... OMIM:618969
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Recurrent respiratory infections, Recurrent ur... OMIM:300988
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... OMIM:310350
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Leukemia, Impaired lymphocy... OMIM:153600
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Recurrent otitis media, Recurrent pneumonia, Decreased circulating total IgM, Incre... OMIM:243700
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased circulating total IgM, Decreased proportion of memory ... OMIM:619510
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Pneumonia, Recurrent viral infections, Asthma, Onychomycosis, Recurrent respir... ORPHA:217390
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Protracted diarrhe... ORPHA:331206
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased circulating IgG level, Defective B cell differentiatio... OMIM:617765
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Chronic hepatitis, Hepatitis, Thrombocytopenia, Diarrhea, Sclero... OMIM:308230
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia, Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia OMIM:615214
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency 37
Colitis, Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circu... OMIM:616098
Secretory Component Deficiency
Secretory IgA deficiency, Intermittent diarrhea, Chronic intestinal candidiasis OMIM:269650
Immunodeficiency 8
Lymphopenia OMIM:615401
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:611926
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Decreased specific pneumococcal antibody level, Colitis, Impaired lympho... OMIM:617006
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent respiratory infections, Recurrent infections, Recurrent skin infections, Decreased circ... OMIM:617744
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Recurrent ear infections, Increased circulating IgM level, Decreased specific ... OMIM:615513
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Cholangitis, Protracted diarrhea, Agammaglobulin... OMIM:209920
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia, Decreased circulating antibody level OMIM:615206
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Uveitis, Chronic neutropen... OMIM:614700
Immunodeficiency 92
Recurrent oral herpes, Decreased circulating IgG level, Sclerosing cholangitis, Pneumonia, Leukoc... OMIM:619652
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Patchy alopecia, Autoimmune hemolytic anemia, Alopecia universalis, Decreased specific anti-polys... OMIM:606367
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Recurrent otitis media, Persistent CMV viremia, Recurrent viral infe... OMIM:300853
Cernunnos-Xlf Deficiency
T lymphocytopenia, Recurrent viral infections, Recurrent bacterial infections, Decreased circulat... ORPHA:169079
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Hemophagocytosis, Colitis, Sple... OMIM:613101
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Recurrent viral in... ORPHA:275
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent bacterial infections, Recurrent viral infections, Abnor... OMIM:308220
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Severe infection, Hashimoto thyroiditis, Rheumatoid... ORPHA:331235
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... OMIM:312863
Masp2 Deficiency
Ulcerative colitis, Recurrent pneumonia, Complement deficiency OMIM:613791
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Recurrent pneumonia, Increased circulating IgG level, Complete o... OMIM:610163
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, B lymphocytopenia, Recurrent infections, Agammaglobulinemia OMIM:616941
Complement Component 6 Deficiency
Recurrent meningococcal disease, Decreased serum complement C6, Reduced hemolytic complement acti... OMIM:612446
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Neutrope... OMIM:614868
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Decreased circulating antibody level, Bronchiectasis, Inflammation of the larg... OMIM:618108
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Splenomegaly, Cutaneous anergy, Decreased helper T cell proportion, Hypersplenism OMIM:183350
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Decreased circulating IgG level, Abnormality of the liver OMIM:235550
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections, Decreased serum complement C7 OMIM:610102
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Arthritis, Peritonitis, Increased circulating IgA level, Hepatomegal... ORPHA:343
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Severe infection, Decreased eosinophil count, Peritonitis, ... ORPHA:2686
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Recurrent infections, Increased alpha-globulin, Histiocytosis OMIM:235900
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Decreased proport... OMIM:617241
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Partial IgA deficiency, Absent natural killer cells, Lymphopenia... ORPHA:35078
Immunodeficiency 52
Recurrent infections, Recurrent pneumonia, Persistent CMV viremia, Coombs-positive hemolytic anem... OMIM:617514
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Autoimmune h... OMIM:608184
Immunodeficiency 35
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent fungal infections, Recu... OMIM:611521
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Recurrent pneumonia, Recurrent Staphylococcus aureus infections, Cutaneous abscess,... OMIM:147060
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent otitis media, Agammaglobulinemia, Prostatitis, Anemia,... OMIM:300755
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Increased circulating IgG level, Thrombocytosis,... OMIM:209950
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Recurrent infections, Bronchiolitis, Interstitial pneumonitis, D... OMIM:614878
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Recurrent infections, Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Aplasia of the thymus, Lymphopenia, Diarrhea, Recurrent pneumonia, R... OMIM:102700
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia, Recurrent staphylococcal infections, Recurrent bacterial infections, Recurrent strep... ORPHA:70592
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased serum complement C4, Recurrent otitis media, Autoimmune hemolytic anemia, Membranous ne... OMIM:615559
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Decreased serum complement factor B, Meni... OMIM:615561
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper T cells, R... ORPHA:572
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Recurrent pneumonia, Recurrent upper respiratory tract infection... OMIM:619752
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:443811
Immunodeficiency, Common Variable, 10
Recurrent oral herpes, Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumon... OMIM:615577
Complement Factor D Deficiency
Recurrent bacterial infections, Complement deficiency OMIM:613912
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Recurrent upper respiratory tract infections, T lymphocytopenia, Absent n... OMIM:600802
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia, Recurrent otitis media, Bronchiectasis, Eczema, Recurrent respiratory infections, K... OMIM:618523
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgG level, Recurrent otitis media, Viral hepatitis, Severe infection, Chola... ORPHA:183675
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Recurrent bacterial infect... OMIM:202700
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Severe infection, Coombs-positive hemolytic anemia, Arthritis, Autoimmune thrombocy... OMIM:304790
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Lymphocytosis, Skin rash, Chronic mucocutaneous candidiasis, Abnorma... ORPHA:911
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Increased circulating IgG level, Pleural thickening, Decreased eosinophil count,... OMIM:619632
Immunodeficiency 84
Recurrent bacterial infections, Splenomegaly, Persistent EBV viremia, B lymphocytopenia, Perianal... OMIM:619437
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia, Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infect... OMIM:616022
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Recurrent infections, Eczema, Thyroiditis, Short stature, Postnatal growth retardation, Delayed p... OMIM:618985
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Hepatic failure, Aplastic anemia, Lymphocytosis, T... OMIM:308240
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Decreased lymphocyte apoptosis, Increased circulating IgG level, Increased circulat... OMIM:601859
Immunodeficiency 33
Decreased circulating total IgM, Recurrent bacterial infections, Increased circulating IgA level,... OMIM:300636
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Hemophagocytosis, Recurrent bacterial infections, Melanin pigment aggregation... OMIM:607624
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Pneumonia, Recurrent opportunistic infections, Meningitis, ... OMIM:601457
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia, Increased circulating ferritin concentration ORPHA:231249
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis, Decreased serum complement C8 OMIM:613789
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy, Increased circulating IgE level ORPHA:482
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea, Leukocytosis, Anemia OMIM:619398
Immunodeficiency 76
Recurrent pneumonia, T lymphocytopenia, Colitis, Splenomegaly, Chronic diarrhea, Recurrent bronch... OMIM:619164
X-Linked Agammaglobulinemia
Sinusitis, Recurrent pneumonia, Recurrent cutaneous abscess formation, Agammaglobulinemia, Arthri... ORPHA:47
Xq28 (MECP2) duplication
Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Decreased circulating IgA... DECIPHER:45
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency, Common Variable, 13
Pancytopenia, Recurrent bacterial infections, Decreased circulating antibody level, B lymphocytop... OMIM:616873
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis, Increased circulating IgE level OMIM:147050
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, R... ORPHA:444463
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Reduced natural killer cell activity, Decreased... OMIM:614493
Netherton Syndrome
Decreased circulating IgG level, Recurrent infections, Brittle hair, Hypereosinophilia, Asthma, S... OMIM:256500
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Increased circulating ferritin concentration, Reduced natural killer cell activity,... OMIM:616050
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent bacteria... OMIM:193670
Immune Deficiency Disease
Decreased circulating total IgM, Recurrent viral infections, Cholangitis, Recurrent bacterial inf... OMIM:242850
Aspergillosis
Hepatitis, Keratitis, Hypersensitivity pneumonitis, Invasive pulmonary aspergillosis, Infectious ... ORPHA:1163
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Griscelli Syndrome
Premature graying of hair, Abnormal eyebrow morphology, Leukopenia, Bone marrow hypocellularity, ... ORPHA:381
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Immunodeficiency 104
T lymphocytopenia, Pneumonia, Splenomegaly, Recurrent opportunistic infections, Hepatomegaly, Ecz... OMIM:608971
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, Agammaglobulinemia, Neutropenia... OMIM:619705
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Recurrent infections, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomeg... OMIM:614470
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, Increased circulating ferritin concentration, T lymphocytopenia, Severe cytom... OMIM:619313
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level, Recurrent infections, Arthritis, Colitis, Inflammation of the la... OMIM:608809
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
X-Linked Lymphoproliferative Disease
Pancytopenia, Decreased circulating IgG level, Hepatic failure, Absent natural killer cells, Hist... ORPHA:2442
Immunodeficiency 36
Recurrent bacterial infections, Splenomegaly, Chronic diarrhea, Decreased circulating antibody le... OMIM:616005
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Autoimmune hemolytic anemia, Glomerulonephritis, Increased circulating antibody level,... OMIM:247800
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Iron deficiency anemia, Malar rash, Elevated proportion of CD4-negat... OMIM:603909
Specific Granule Deficiency 1
Increased neutrophil ribosomes, Increased neutrophil mitochondria, Recurrent bacterial infections... OMIM:245480
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Reticular Dysgenesis
Leukopenia, Lack of T cell function, Congenital agranulocytosis, Impaired T cell function, Hypopl... OMIM:267500
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Tularemia
Anemia, Otitis media, Thrombocytopenia, Conjunctivitis, Skin rash, Cervical lymphadenopathy, Coug... ORPHA:3392
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Shigellosis
Intestinal perforation, Nausea, Hepatic failure, Uveitis, Cholestasis, Bloody mucoid diarrhea, Te... ORPHA:810
Reticular Dysgenesis
Leukopenia, Decreased circulating antibody level, Abnormality of neutrophils, Recurrent respirato... ORPHA:33355
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Agammaglobulinemia, Interface hepatitis, Autoimmune hemolytic anemia, Intestinal atresia, Hypopla... OMIM:243150
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic diarrhea, Meningitis, Decreased circulating antibody level... OMIM:616740
Thymic Aplasia
Severe infection, Invasive fungal infection, Atypical or prolonged hepatitis, Recurrent urinary t... ORPHA:83471
Cirrhosis, Familial
Increased circulating antibody level, Cirrhosis, Hepatitis, Chronic active hepatitis OMIM:118900
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Decreased circulating IgG level, Decreased circulating total IgM, De... ORPHA:90362
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Abnormally low T cell rece... OMIM:618986
Adult Idiopathic Neutropenia
Recurrent infections, Monocytosis, Helicobacter pylori infection, Increased circulating IgM level... ORPHA:2688
Immunodeficiency 23
Eosinophilia, Recurrent Staphylococcus aureus infections, Increased circulating IgG level, Increa... OMIM:615816
Neutropenia, Chronic Familial
Neutropenia, Periodontitis, Increased circulating antibody level OMIM:162700
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Maculopapular exanthema, Anemia, Increased serum ... ORPHA:540
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent infections, Pneumonia, Chronic bronchitis, Growth delay, Decreased circulating antibody... OMIM:614069
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Autosomal Agammaglobulinemia
Sinusitis, Recurrent infections, Recurrent skin infections, Agammaglobulinemia, Arthritis, Cough,... ORPHA:33110
Peeling Skin Syndrome 1
Brittle hair, Asthma, Onycholysis, Abnormality of hair texture, Short stature, Increased circulat... OMIM:270300
Netherton Syndrome
Emphysema, Recurrent infections, Asthma, Abnormal hair morphology, Sparse eyebrow, Decreased circ... ORPHA:634
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Increased circulating ferritin concentration, Abnormal circulating interleukin conc... ORPHA:158057
Immunodeficiency 19
Recurrent respiratory infections, Recurrent otitis media, Lymphopenia, Diarrhea OMIM:615617
Sting-Associated Vasculopathy, Infantile-Onset
Periungual erythema, Tachypnea, Anemia, Malar rash, Lymphopenia, Skin rash, Leukopenia, Thrombocy... OMIM:615934
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Increased circulating lactate dehydrogenase co... ORPHA:158061
Cd8 Deficiency, Familial
Recurrent respiratory infections, Absence of CD8-positive T cells, Recurrent bacterial infections... OMIM:608957
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent meningococcal disease, Disseminated cryptosporidium infection, Recurr... OMIM:614372
Lymphoproliferative Syndrome 2
Pancytopenia, Recurrent pneumonia, Recurrent infections, Uveitis, Hepatosplenomegaly, Hemophagocy... OMIM:615122
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Increased circulating 18-hydroxyco... OMIM:610600
Neutropenia, Severe Congenital, X-Linked
Neutropenia, Recurrent bacterial infections OMIM:300299
Lichtenstein Syndrome
Neutropenia, Recurrent respiratory infections, Recurrent infections, Decreased circulating IgA level OMIM:246550
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti... OMIM:613860
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Uveitis, Autoimmune hemolytic anemia, Decreased proportion of CD... ORPHA:3261
Idiopathic Chronic Eosinophilic Pneumonia
Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Hypereosinophi... ORPHA:2902
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Membranous nephropathy, Hepatitis, Inflammat... ORPHA:37042
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased mean platelet volume, Sinusitis, Decreased circulating total IgM, Recurrent upper respi... OMIM:600903
Okur-Chung Neurodevelopmental Syndrome
High palate, Decreased circulating IgG level, Constipation, Decreased circulating IgA level, Feed... OMIM:617062
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Enlarged kidney, Complete or near-complete absence of sp... OMIM:613496
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Rectal abscess, Agammaglobulinemia, Recurrent bacter... OMIM:601495
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Splenomegaly, Hepatomegaly, Abnormality of the small intestine, Abdominal p... ORPHA:100025
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, T lymphocytopenia, Pneumonia, Increased circulating IgM level, Decreased circulating I... OMIM:242860
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Recurrent respiratory infections, Decreased circulating total IgM, Decreased circula... OMIM:251190
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Immunodeficiency 82 With Systemic Inflammation
Recurrent abscess formation, Recurrent otitis media, Decreased circulating total IgG, Anemia, Hep... OMIM:619381
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Wiskott-Aldrich Syndrome
Recurrent otitis media, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper ... OMIM:301000
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Decreased specific antibody response to protein-conjugated polysaccharide vaccine, Dec... ORPHA:70593
Hypotrichosis Simplex Of The Scalp
Fine hair, Allergic rhinitis, Atopic dermatitis, Slow-growing scalp hair, Sparse scalp hair, Alop... ORPHA:90368
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Recurrent upper respiratory tract infections, Pneumonia, Recurrent viral infections, A... OMIM:613179
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent infections, Increased circulating antibody level, Lymphadenopathy, Thrombocytopenia, Sk... OMIM:618048
Secondary Intestinal Lymphangiectasia
Decreased circulating total IgM, Recurrent infections, Constrictive pericarditis, Cirrhosis, Incr... ORPHA:90363
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Bone marrow hypocellularity, Colitis, Decreased circulating antibody level, Esophagea... OMIM:615190
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Failure to thrive, Hypoalbuminemia,... OMIM:246700
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:300861
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia, Hyponatremia OMIM:616949
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Recurrent otitis media, Pneumonia, Delayed puberty, Infectious encephalitis, Recurrent... OMIM:307200
Boutonneuse Fever
Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Maculopapular exant... ORPHA:83313
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Recurrent skin infections, Recurrent bacterial infections, Sple... OMIM:612840
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hyponatremia, Hemophag... OMIM:267700
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Recurrent abscess formation, Anemia, Ascites, Thrombocytopenia, Chronic mucocutaneo... ORPHA:79124
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Lactose Intolerance, Adult Type
Decreased small intestinal mucosa lactase level, Abdominal pain, Lactose intolerance, Flatulence,... OMIM:223100
Immunodeficiency 67
Transient neutropenia, Recurrent streptococcal infections, Recurrent staphylococcal infections, L... OMIM:607676
Immunodeficiency 58
Recurrent aphthous stomatitis, Dysphagia, Esophagitis, Chronic mucocutaneous candidiasis, Recurre... OMIM:618131
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Transcobalamin Ii Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... OMIM:275350
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Crohn's disease, Pyoderma, Colitis, Enterocolitis, Perianal abscess, Folliculitis OMIM:613148
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Recurrent upper respiratory tract infections, Pneumonia, Panhypogammaglobulinemia, Otitis media, ... OMIM:602450
Bacterial Toxic-Shock Syndrome
Nausea, Severe infection, Increased circulating myelocyte count, Recurrent urinary tract infectio... ORPHA:36234
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent Staphylococcus aureus infections, Recurrent otit... OMIM:613953
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level, Gastrostomy tube feeding in infancy, Episodic vomiting OMIM:618973
Budd-Chiari Syndrome
Portal hypertension, Gastrointestinal hemorrhage, Cirrhosis, Cholecystitis, Peritonitis, Splenome... ORPHA:131
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia, Recurrent infections, Abnormal hair morphology, Cough, Eczema, Recurrent respirator... ORPHA:2314
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Increased circulating antibody level, ... ORPHA:100024
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Hepatosplenomegaly... OMIM:619126
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent infections, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia... OMIM:616576
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia, Abnormal circulating corticosteron... ORPHA:556037
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Hypoplastic anemia, Spl... ORPHA:2585
Immunodeficiency 47
Exocrine pancreatic insufficiency, Cholestasis, Accessory spleen, Decreased circulating total IgG... OMIM:300972
Schnitzler Syndrome
Leukocytosis, Increased circulating IgM level, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopath... ORPHA:37748
Immunodeficiency 21
Recurrent viral infections, Recurrent mycobacterium avium complex infections, Recurrent fungal in... OMIM:614172
Bone Marrow Failure Syndrome 4
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level, Eczema, Recurrent ... OMIM:618116
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Erysipelas, Myositis, Uveitis, Leukocytosis, Arthritis, Constipation, Vomiting, Peritonitis, Orch... ORPHA:32960
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Immunodeficiency 56
Recurrent otitis media, Recurrent pneumonia, Recurrent infections, Hepatic failure, Cholangitis, ... OMIM:615207
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Bloody diarrhea, Schistocytosis, Colonic stenosis, Leukocytosis, Peritoni... ORPHA:90038
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent u... ORPHA:221139
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Familial Mediterranean Fever
Erysipelas, Crohn's disease, Leukocytosis, Arthritis, Orchitis, Peritonitis, Neutrophilia, Spleno... OMIM:249100
Igg4-Related Aortitis
Hypereosinophilia, Asthma, Increased circulating IgG4 level, Increased inflammatory response, Inc... ORPHA:449400
Immunodeficiency 54
Recurrent viral infections, Splenomegaly, Recurrent respiratory infections, Lymphadenopathy, Redu... OMIM:609981
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Dystrophic Epidermolysis Bullosa Pruriginosa
Abnormal toenail morphology, Increased circulating IgE level, Nail dystrophy ORPHA:89843
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Ebola Hemorrhagic Fever
Acute pancreatitis, Leukopenia, Maculopapular exanthema, Thrombocytopenia, Cough, Dyspnea, Increa... ORPHA:319218
Immunodeficiency 15B
Decreased circulating antibody level, Chronic diarrhea, Agammaglobulinemia OMIM:615592
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Feeding difficulties in infancy, Portal hypertension, Hashimoto thyroiditis, Gastro... OMIM:613385
Aicardi-Goutieres Syndrome 7
Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Increased circulating antibody level... OMIM:615846
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia, Abnormal circulating corticosteron... ORPHA:556030
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Anorexia, Neutropenia, Abnormal intestine morphology, Secretory ... OMIM:600351
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Failure to thrive, Hyponatremia, Increased circulating renin level OMIM:203400
Q Fever
Unusual infection, Maculopapular exanthema, Anemia, Hepatitis, Thrombocytopenia, Abnormal pulmona... ORPHA:781
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Lymphoproliferative Syndrome 1
Pancytopenia, Decreased circulating IgG level, Recurrent infections, Leukopenia, Autoimmune hemol... OMIM:613011
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Cataract, Failure to thrive in infancy, Hypoalbuminemia OMIM:618805
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Hypoalbuminemia ORPHA:88643
Fusariosis
Maculopapular exanthema, Invasive fungal infection, Fasciitis, Keratitis, Lymphopenia, Lung absce... ORPHA:228119
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Increased circulating renin level, Hyperkalemia, Failure to thrive, Hyperaldosteronism OMIM:177735
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Bloom Syndrome
Decreased circulating IgG level, Uveitis, Recurrent tonsillitis, Recurrent urinary tract infectio... ORPHA:125
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short stature, Increased circulating IgE level ORPHA:1858
Zygomycosis
Nausea, Gastrointestinal hemorrhage, Invasive fungal infection, Hematemesis, Hepatitis, Pancreati... ORPHA:73263
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Recurrent infections, Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, An... OMIM:617780
Hyperchlorhidrosis, Isolated
Hyperkalemia, Failure to thrive, Hyponatremia OMIM:143860
Diarrhea 8, Secretory Sodium, Congenital
Elevated fecal sodium, Secretory diarrhea, Abdominal distention, Inflammation of the large intestine OMIM:616868
Lipodystrophy, Congenital Generalized, Type 4
Ileus, Recurrent infections, Hepatic steatosis, Constipation, Feeding difficulties, Splenomegaly,... OMIM:613327
Leukocyte Adhesion Deficiency
Recurrent tonsillitis, Recurrent aphthous stomatitis, Vaginitis, Recurrent urinary tract infectio... ORPHA:2968
Familial Mediterranean Fever
Oral leukoplakia, Erysipelas, Pericarditis, Arthritis, Constipation, Peritonitis, Orchitis, Osteo... ORPHA:342
Pseudomyxoma Peritonei
Constipation, Inflammation of the large intestine, Nausea and vomiting, Abdominal pain, Abnormali... ORPHA:26790
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Recurrent upper respiratory tract infections, Achalasia, Hepat... OMIM:615952
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Recurrent infections, Cholestasis, Splenomegaly, Chronic diarrhea, Hepatomegaly, In... OMIM:614576
Microsporidiosis
Nausea, Cholangitis, Prostatitis, Decreased proportion of CD4-positive helper T cells, Hepatitis,... ORPHA:2552
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Hypereosinophilia, Increased circulating IgG level, Uveitis, Increased circul... OMIM:617388
Coccidioidomycosis
Invasive fungal infection, Pancreatitis, Coccidioidal meningitis, Skin rash, Osteomyelitis, Granu... ORPHA:228123
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent infections, Crohn's disease, Acute pancreatitis, Lymphadenitis, He... OMIM:618935
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Gastrointestinal hemorrhage, Increased circul... ORPHA:2137
Hyper-Igd Syndrome
Increased circulating IgD level, Recurrent infections, Lymphadenitis, Hepatosplenomegaly, Leukocy... OMIM:260920
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Fair hair, Developmental cataract, Increased LDL cholesterol concentration OMIM:618808
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Abnormal circulating interleukin concentration, Lymphadenitis, Pneumonia, Disseminated nontubercu... ORPHA:319552
Listeriosis
Nausea, Arteritis, Liver abscess, Conjunctivitis, Diarrhea, Pyelonephritis, Unusual skin infectio... ORPHA:533
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Necrotizing Enterocolitis
Bloody diarrhea, Leukocytosis, Peritonitis, Neutropenia, Abdominal distention, Neonatal sepsis, T... ORPHA:391673
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Increased c... ORPHA:507
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level, Recurrent infections, Malabsorption ORPHA:99811
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Decreased serum creatinine OMIM:300539
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Gastritis, Vomiting, Pancolitis, Chronic diarrhea, Abdominal pain, Abnormal inte... OMIM:619079
Congenital Disorder Of Glycosylation, Type Iir
Recurrent infections, Hepatic steatosis, Decreased liver function, Hepatomegaly, Jaundice, Decrea... OMIM:301045
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Prolidase Deficiency
Recurrent pneumonia, Recurrent infections, Asthma, Elevated circulating aspartate aminotransferas... OMIM:170100
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hepatosp... OMIM:603553
Adult-Onset Still Disease
Restrictive ventilatory defect, Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Splenome... ORPHA:829
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Gastroesophageal reflux, Anorexia, Decreased ci... ORPHA:90045
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Hyponatremia, Hyperuricemia, Anemia, Failure to thrive, Hypomagnesemia, Thrombocytopenia OMIM:613845
Refractory Celiac Disease
Microcytic anemia, Hypoproteinemia, Normocytic anemia, Hypocalcemia, Abnormal spleen physiology, ... ORPHA:398063
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Inflammatory Bowel Disease 25, Autosomal Recessive
Rectovaginal fistula, Pancolitis, Enterocutaneous fistula, Enterocolitis, Perianal abscess, Folli... OMIM:612567
Good Syndrome
Sinusitis, Recurrent skin infections, Decreased circulating antibody level, Bronchiectasis, Abnor... ORPHA:169105
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Primary Peritoneal Carcinoma
Constipation, Peritonitis, Abdominal pain, Abdominal distention, Nausea and vomiting ORPHA:168829
Common Variable Immunodeficiency
Emphysema, Restrictive ventilatory defect, Pneumonia, Abnormality of the liver, Autoimmune thromb... ORPHA:1572
Inflammatory Skin And Bowel Disease, Neonatal, 1
Blepharitis, Erythroderma, Onychogryposis, Pustule, Increased circulating IgE level, Paronychia OMIM:614328
Immunodeficiency 55
Recurrent infections, Recurrent skin infections, Eczema, Neutropenia, Lymphadenopathy, Diarrhea OMIM:617827
Immunodeficiency 13
Recurrent otitis media, Recurrent upper respiratory tract infections, Recurrent pneumonia, T lymp... OMIM:615518
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections, Eczematoid dermatitis, Absent circulating B c... OMIM:619693
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibo... ORPHA:48104
Riddle Syndrome
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Pneumonia,... ORPHA:420741
Ataxia-Telangiectasia
Sinusitis, Decreased circulating IgG level, T lymphocytopenia, Leukemia, Defective B cell differe... OMIM:208900
Legionnaires Disease
Restrictive ventilatory defect, Bone marrow hypocellularity, Abnormal lung morphology, Infectious... ORPHA:549
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Eosinophilic Gastroenteritis
Eosinophilia, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Hypoal... ORPHA:2070
Omenn Syndrome
Eosinophilia, Pneumonia, Recurrent viral infections, Recurrent bacterial infections, Splenomegaly... OMIM:603554
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased circulating IgM level, Increased circulating IgA level, Neutrophilia, Chr... OMIM:617099
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, Recurrent meningitis, B lym... OMIM:612260
Macrocephaly/Autism Syndrome
Recurrent infections, Splenomegaly, Decreased circulating antibody level, Hepatomegaly, Lymphopenia OMIM:605309
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Recurrent infections, Pneumonia, Thrombocytosis, Hepatomegaly, Decreased circulating antibody lev... OMIM:226300
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Hirschsprung Disease, Susceptibility To, 1
Abnormality of enteric ganglion morphology, Constipation, Aganglionic megacolon, Abdominal disten... OMIM:142623
Hermansky-Pudlak Syndrome 2
Recurrent abscess formation, Impaired ADP-induced platelet aggregation, Recurrent pneumonia, Recu... OMIM:608233
Herpes Simplex Virus Encephalitis
Hyponatremia, Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:1930
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Increased circulating ferritin concentration, Severe infection, Severe cytomegalovi... ORPHA:158048
Mandibuloacral Dysplasia
Abnormality of skin pigmentation, Hypercholesterolemia, Increased circulating free fatty acid lev... ORPHA:2457
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoalbuminemia OMIM:617156
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Failure to thrive in infancy, Increased circulating renin level, Hyperkalemia, Gluc... ORPHA:171876
Primary Myelofibrosis
Pancytopenia, Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Leuk... ORPHA:824
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Decreased T cell activation, Leukocytosis, Increased circulating IgG level, T... OMIM:618213
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Thrombocytopenia, Hyponatremia ORPHA:83601
Bone Marrow Failure Syndrome 5
Anemia, Decreased circulating antibody level, Pure red cell aplasia OMIM:618165
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Hypoadrenocorticism, Familial
Hyperkalemia, Abnormality of skin pigmentation, Hyponatremia OMIM:240200
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Failure to thrive, Hyponatremia OMIM:614736
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Recurrent aphthous stomatitis, Inflammation of the large intestine, Abdominal pa... OMIM:266600
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
African Iron Overload
Viral hepatitis, Hepatic steatosis, Hepatic bridging fibrosis, Peritonitis, Abnormal pancreas mor... ORPHA:139507
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Recurrent infections, Myositis, Arthritis, Splenomegaly, Thrombocytopenia, Hepatomegal... OMIM:617591
Igg4-Related Kidney Disease
Decreased serum complement C4, Prostatitis, Arteritis, Membranous nephropathy, Inflammatory abnor... ORPHA:449395
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Rectal abscess, R... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Rectal abscess, R... OMIM:233710
Roifman Syndrome
Eosinophilia, Recurrent pneumonia, Recurrent otitis media, Hepatosplenomegaly, Prominent eyelashe... ORPHA:353298
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Failure to thrive, Hyponatremia OMIM:618426
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Sinusitis, Recurrent cutaneous abscess formation, Pneumonia, Infl... ORPHA:229717
Microscopic Polyangiitis
Sinusitis, Pericarditis, Uveitis, Gastrointestinal hemorrhage, Arthritis, Peritonitis, Increased ... ORPHA:727
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Central Diabetes Insipidus
Failure to thrive, Hyponatremia, Weight loss ORPHA:178029
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Decreased ... OMIM:612301
Immunodeficiency 7
Hypereosinophilia, Lymphadenopathy OMIM:615387
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent upper respiratory tra... OMIM:210900
Whim Syndrome
Sinusitis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Lymphadenitis, Pneu... ORPHA:51636
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyperaldosteronism, Hyponatremia, Failure to thrive OMIM:264350
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Abnormality of the periungual region, Hyponatremia, Autoimmune th... ORPHA:293978
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent infections, Recurrent pneumonia, Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia,... OMIM:150550
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hypoalbuminemia, Hepatosplenomegaly, Hypertriglyceridemia OMIM:619013
Malignant Peritoneal Mesothelioma
Ileus, Peritonitis, Abdominal distention, Abdominal pain ORPHA:168811
Complement Component C1S Deficiency
Hashimoto thyroiditis, Abnormality of complement system, Hepatitis OMIM:613783
Pneumocystosis
Nonproductive cough, Increased circulating lactate dehydrogenase concentration, Respiratory failu... ORPHA:723
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Rectal abscess, R... OMIM:233690
Wolcott-Rallison Syndrome
Decreased body weight, Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyp... ORPHA:1667
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Weight loss, Abnormal circulating protein conc... ORPHA:103910
5-Oxoprolinase Deficiency
Abdominal pain, Enterocolitis, Diarrhea, Vomiting OMIM:260005
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia OMIM:314000
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Decreased circulating IgA level, Recurrent aphthous stomatitis, Eczema, Abdominal... OMIM:212750
Rabies
Nausea and vomiting, Recurrent pharyngitis, Anorexia, Diarrhea ORPHA:770
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Hepatosplenomegaly, Chronic diarrhea, Reduced delayed hypersensitivity, Bron... OMIM:242700
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Usual interstitial pneumonia, Cough,... OMIM:178500
Chilblain Lupus
Asthma, Chronic myelomonocytic leukemia, Increased circulating antibody level, Malar rash, Discoi... ORPHA:90280
Mogs-Cdg
High palate, Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly... ORPHA:79330
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Complement Factor H Deficiency
Decreased serum complement factor H, Recurrent bacterial infections, Depletion of components of t... OMIM:609814
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Feeding difficulties in infancy, Nausea, Abnormal peristalsis, Vomiting, Gastroesophageal reflux,... ORPHA:411696
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Recurrent infections, Gastroesophageal reflux, Feeding difficulties, Hepatomegaly, ... ORPHA:251009
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Failure to thrive, Thrombocytopenia, Hypoalbuminemia OMIM:608104
Immunodeficiency 69
Pancytopenia, Increased circulating ferritin concentration, Leukocytosis, Hepatosplenomegaly, Thr... OMIM:618963
Peritoneal Cystic Mesothelioma
Constipation, Peritonitis, Abdominal distention, Abdominal pain ORPHA:168816
Immunodeficiency 59 And Hypoglycemia
High palate, Recurrent upper respiratory tract infections, Recurrent skin infections, Acne invers... OMIM:233600
Porphyria Due To Ala Dehydratase Deficiency
Increased erythrocyte protoporphyrin concentration, Hyponatremia, Myeloproliferative disorder, Ab... ORPHA:100924
Cystic Fibrosis