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Gene: Il10ra MGI:96538

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Gene Summary

Name:
interleukin 10 receptor, alpha
Synonyms:
CDw210,  mIL-10R,  Il10r

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
increased neutrophil cell number Il10ratm1b(KOMP)Wtsi HOM   Early adult 4.92×10-06
abnormal auditory brainstem response Il10ratm1b(KOMP)Wtsi HOM   Early adult 2.27×10-07
decreased startle reflex Il10ratm1b(KOMP)Wtsi HOM   Early adult 3.90×10-05
decreased lymphocyte cell number Il10ratm1b(KOMP)Wtsi HOM   Early adult 2.09×10-05
improved glucose tolerance Il10ratm1b(KOMP)Wtsi HOM Early adult 3.89×10-06
decreased blood urea nitrogen level Il10ratm1b(KOMP)Wtsi HOM   Early adult 3.37×10-05

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

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Human diseases caused by Il10ra 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 Il10ra by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148

The table below shows human diseases predicted to be associated to Il10ra by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Elevated circulating C-reactive protein concentration, Bloody diarrhea OMIM:619398
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... OMIM:619079
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... OMIM:266600
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema... OMIM:300635
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Immunodeficiency 37
Colitis, Recurrent infections, Infectious encephalitis, Decreased circulating antibody level OMIM:616098
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgA level, Increased circulating IgE level, In... OMIM:610163
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Mucoid diarrhea, Increased circulating IgE level, Inflammation ... OMIM:615767
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Inflammatory Bowel Disease 11
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain OMIM:191390
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Hypoalbuminemia ORPHA:88643
Systemic Lupus Erythematosus 16
Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circulating complement C... OMIM:614420
Immunodeficiency 24
Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ... OMIM:615897
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, In... OMIM:601859
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Increased circulating IgE level, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, ... OMIM:617638
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Villous atro... OMIM:209920
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Increased circulating IgA level, Autoimmune thrombocytopenia, Antinu... OMIM:618534
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... OMIM:619220
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Recurrent infect... OMIM:613960
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis OMIM:617006
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... OMIM:618969
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Recurrent upper respiratory t... OMIM:613101
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Immunodeficiency 14B, Autosomal Recessive
Candida esophagitis, Recurrent pneumonia, Chronic diarrhea, Decreased circulating total IgM, Infl... OMIM:619281
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasi... OMIM:618108
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Elevated circulating C-reactive protein concentration, Sterile arthritis, Arthritis, Coliti... OMIM:604416
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:608106
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Abnormal immunoglobulin level, Feeding difficulties in infancy, Invasive fungal infection... ORPHA:98813
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreas... OMIM:618394
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased circulating tota... OMIM:614878
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Skin rash, Elevated circulating C-reactive protein concentration, Feeding diffic... OMIM:616050
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Recurrent upper respira... ORPHA:436159
Hashimoto Thyroiditis
Autoimmune antibody positivity, Hashimoto thyroiditis OMIM:140300
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... OMIM:614699
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, In... OMIM:603909
Insulin Autoimmune Syndrome
Autoimmune antibody positivity, Increased circulating antibody level, Autoimmunity, Systemic lupu... ORPHA:411593
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level OMIM:247800
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased circulating total IgM, Reduced isohemagglutinin level, Dec... OMIM:618459
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Antinuclear antibody positivity, Anti-thyroid peroxidase antibod... OMIM:618048
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic diarrhea, Bronchiec... OMIM:618131
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... OMIM:617765
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... ORPHA:26790
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Recurrent respiratory infections, Increased circulating interleukin 6 concentration, Chronic gast... OMIM:301074
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... OMIM:619707
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Immunodeficiency 76
Chronic diarrhea, Colitis, Recurrent pneumonia OMIM:619164
Immunodeficiency 97 With Autoinflammation
Recurrent sinopulmonary infections, Recurrent urinary tract infections, Hypertriglyceridemia, Rec... OMIM:619802
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgG level, Increased circulating IgE level OMIM:618982
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Abdominal pain, Fe... OMIM:616809
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Sepsis, Uveitis, Inflammation of the large intestine, Coliti... OMIM:614700
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to... OMIM:613493
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Anterior uveitis, Colitis, Skin rash OMIM:616744
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... OMIM:613502
Igg4-Related Aortitis
Autoimmunity, Increased circulating IgG4 level, Antinuclear antibody positivity, Cytoplasmic anti... ORPHA:449400
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Elevated circulating C-reactive prot... ORPHA:324964
Myeloma, Multiple
Paraproteinemia OMIM:254500
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating IgG level, Autoimmune hemolytic anemia, Autoimmunity OMIM:618495
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis, Decreased circulating antibody level OMIM:615190
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Abnormal blood ion concentration, Sepsis, Tubulointerstitial nephri... ORPHA:37042
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Maculopapular exanthema,... ORPHA:540
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Bloody dia... OMIM:617718
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Recurrent respiratory infections, Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresi... OMIM:243150
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Chronic diarrhea, Recurrent pneumonia, Bronchi... OMIM:301220
Chilblain Lupus
Antiphospholipid antibody positivity, Rheumatoid factor positive, Antinuclear antibody positivity... ORPHA:90280
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Decreased circulating total IgM, Increased circulating interleuk... OMIM:618944
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... OMIM:243700
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Fulminant hepat... ORPHA:2137
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ... ORPHA:3243
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Trichohepatoenteric Syndrome 2
Villous atrophy, Decreased serum iron, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hepat... OMIM:614602
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia OMIM:613412
Severe Combined Immunodeficiency, X-Linked
Reduced natural killer cell activity, Agammaglobulinemia, Decreased circulating total IgM, Decrea... OMIM:300400
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency 27A
Increased circulating IgG level, Increased circulating IgM level, Rheumatoid factor positive OMIM:209950
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Bloody diarrhea, ... ORPHA:67
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Immunodeficiency 61
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... OMIM:300310
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythema... ORPHA:48377
Immunodeficiency, Common Variable, 2
Autoimmunity, Impaired T cell function, Decreased circulating IgG level, Partial absence of speci... OMIM:240500
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Recurrent viral infections, Recurrent ... ORPHA:911
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Sensorineural hearing impairment, ... OMIM:598500
Congenital Disorder Of Glycosylation, Type Iil
Elevated circulating creatine kinase concentration, Chronic diarrhea, Decreased specific anti-pol... OMIM:614576
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... OMIM:612692
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Elevated circulating C-reactive protein concentration, Anorexia, Colitis, Hypoal... OMIM:619381
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Diarrhea, Recurrent upper respiratory tract ... OMIM:616100
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Eczema, Abdominal pain, Lymphadenitis, Chroni... OMIM:615895
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgA level, Autoimmune thrombocytopenia, Increased circulating IgE level, In... ORPHA:169154
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Hyperammonemia, Ga... OMIM:201475
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... OMIM:600501
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Immunodeficiency 109 With Lymphoproliferation
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Complete or near... OMIM:620282
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Immunodeficiency 40
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral can... OMIM:616433
Selective Igm Deficiency
Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Severe varicella zoster infecti... ORPHA:331235
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca... OMIM:615513
Sepsis In Premature Infants
Neonatal sepsis, Increased circulating interleukin 6 concentration, Disseminated viral infection,... ORPHA:90051
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency 92
Recurrent oral herpes, Osteomyelitis, Persistent CMV viremia, Cholangitis, Pneumonia, BCGosis, Ch... OMIM:619652
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Autoimmunity, Anti-thyroid peroxidase antibody positivity, Increased circulating IgE level, Lack ... ORPHA:277
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Generalized dystonia, Tremor, Sensorineural hearing impairme... ORPHA:52368
Autoinflammation With Arthritis And Dyskeratosis
Antinuclear antibody positivity, Increased circulating IgG level, Autoimmune hemolytic anemia, In... OMIM:617388
Shigellosis
Anorexia, Intestinal perforation, Sepsis, Abnormal blood ion concentration, Uveitis, Paralytic il... ORPHA:810
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula... ORPHA:555905
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy... ORPHA:562639
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... OMIM:618213
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level OMIM:193670
Immunodeficiency, Common Variable, 6
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... OMIM:613496
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Intestinal perforation, Secretory diarrhea, Bl... ORPHA:544482
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level OMIM:312863
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Pancreatitis, Decreased LDL choles... OMIM:615947
Sting-Associated Vasculopathy, Infantile-Onset
Antiphospholipid antibody positivity, Rheumatoid factor positive, Increased circulating IgA level... OMIM:615934
Ras-Associated Autoimmune Leukoproliferative Disorder
Decreased lymphocyte apoptosis, Increased circulating antibody level, Autoimmunity, Autoimmune th... OMIM:614470
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphop... ORPHA:444463
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Autoimmunity, Anticardiolipin IgG antibody positivity, Reduced natur... OMIM:615559
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Iron deficiency anemia, Neutropenia, Progressive sensorineural he... ORPHA:494444
Agammaglobulinemia 8B, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Partial absence o... OMIM:619824
Immunodeficiency, Common Variable, 1
Impaired T cell function, Neutropenia in presence of anti-neutropil antibodies, Decreased circula... OMIM:607594
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent Aspergillus infections, Recurrent herpes, Villous atrophy, Inflammatory abnormality of ... ORPHA:391487
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Severe infection, Recurre... ORPHA:2686
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Wiskott-Aldrich Syndrome
Recurrent herpes, Eczema, Increased circulating IgA level, Hematemesis, Diarrhea, Increased circu... OMIM:301000
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a... ORPHA:1215
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Au... ORPHA:3261
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Hypochromic microcyti... ORPHA:3240
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Eczema, Anal fissure, Perianal abscess, Lymphadenitis, Recurrent pneumonia, R... OMIM:618935
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... OMIM:301082
Dyskeratosis Congenita, Autosomal Recessive 8
Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture OMIM:620133
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Kimura Disease
Increased circulating IgE level ORPHA:482
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ... ORPHA:793
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Autoimmunity, Decreased circulating IgG level, Juvenile rheumatoid arthritis, Hashimoto thyroidit... ORPHA:275
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea, El... ORPHA:90038
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... OMIM:615508
Immunodeficiency, Common Variable, 10
Anti-thyroid peroxidase antibody positivity, Decreased circulating total IgM, Anti-thyroglobulin ... OMIM:615577
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... OMIM:617780
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormal immunoglobulin level, Increased circulating IgG level, Decreased lymphocyte proliferatio... ORPHA:276
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve... OMIM:617241
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Membranous nephropathy, Atopic dermatitis, Colonic eosinophilia OMIM:618999
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
C3 Glomerulopathy
Autoimmunity, Paraproteinemia, Decreased circulating complement C3 concentration, C3 nephritic fa... ORPHA:329918
Postinfectious Vasculitis
Elevated circulating C-reactive protein concentration, Anorexia, Severe varicella zoster infectio... ORPHA:48435
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Hypertriglyceridemia, Villous atrophy, Necrotizing enterocolitis, Elevated ci... OMIM:619573
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Glycogen Storage Disease Ib
Hyperlipidemia, Gout, Recurrent bacterial infections, Inflammation of the large intestine, Hyperu... OMIM:232220
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Angiostrongyliasis
Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati... ORPHA:74
Igg4-Related Submandibular Gland Disease
Autoimmunity, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... ORPHA:449432
Simple Cryoglobulinemia
Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M ... ORPHA:91139
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:614069
Thymoma
Myositis, Glomerulonephritis, Ulcerative colitis, Decreased circulating antibody level, Rheumatoi... ORPHA:99867
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... OMIM:308230
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level... OMIM:615816
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... OMIM:619846
Immunodeficiency 43
Decreased circulating IgG level, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:241600
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Igg4-Related Thyroid Disease
Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Anti... ORPHA:64744
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Decreased circulating antibody level, Decreased circul... ORPHA:331206
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Pgm3-Cdg
Recurrent viral infections, Sepsis, Increased circulating IgG level, High palate, Gastroesophagea... ORPHA:443811
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Immunodeficiency 96
Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating IgG level,... OMIM:619774
Activated Pi3K-Delta Syndrome
Increased circulating IgM level, Autoimmunity, Decreased circulating antibody level ORPHA:397596
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy OMIM:616881
Glycogen Storage Disease Ic
Stomatitis, Chronic pancreatitis, Hyperlipidemia, Recurrent upper respiratory tract infections, G... OMIM:232240
Syndromic Diarrhea
Villous atrophy, Gastritis, Hepatoblastoma, Bloody diarrhea, Recurrent infections, Colitis, Abnor... ORPHA:84064
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Feeding difficulties, Gastroesophageal reflux, Esophagitis, Hyposerinemia ORPHA:79350
Ataxia-Telangiectasia
Tremor, Lymphopenia, Diabetes mellitus, Type II diabetes mellitus ORPHA:100
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... OMIM:618986
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hyperlipidemia, Diarrhea, Enterocolitis, Gout, Hepatocellular adenoma, Ulce... ORPHA:79259
Immunodeficiency 22
Autoimmunity, Decreased circulating total IgM, Decreased circulating IgE, Decreased circulating I... OMIM:615758
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Decreased circulating ant... OMIM:613011
Lymphoproliferative Syndrome, X-Linked, 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Decreased circulating antibody level,... OMIM:308240
Stiff-Person Syndrome
Exaggerated startle response, Diabetes mellitus, Anemia, Opisthotonus OMIM:184850
Primary Biliary Cholangitis
Increased circulating IgA level, Conjugated hyperbilirubinemia, Celiac disease, Abdominal distent... ORPHA:186
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Primary Sclerosing Cholangitis
Acute hepatic failure, Recurrent systemic pyogenic infections, Cholangiocarcinoma, Abnormal large... ORPHA:171
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... OMIM:226990
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Keratoconjunctivitis sicca, Colitis, Steatorrhea,... ORPHA:309031
Cocaine Intoxication
Elevated circulating creatine kinase concentration, Glomerulonephritis, Abdominal pain, Intestina... ORPHA:90068
Hemochromatosis, Type 3
Lymphopenia, Anemia, Neutropenia OMIM:604250
Immunodeficiency 36 With Lymphoproliferation
Increased circulating IgM level, Decreased circulating IgG level, Autoimmunity, Decreased circula... OMIM:616005
Sneddon Syndrome
Tremor, Lymphopenia, Facial palsy OMIM:182410
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Stiff Person Spectrum Disorder
Exaggerated startle response, Diabetes mellitus ORPHA:3198
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level OMIM:619705
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Sensorineural hearing impairment, Acute le... ORPHA:3226
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:301081
Lymphangiectasia, Intestinal
Decreased circulating IgG level OMIM:152800
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr... OMIM:619510
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level OMIM:615285
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Posteriorly rotated ears, Eosinophili... OMIM:617237
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:619260
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... ORPHA:2908
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:620210
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis, Increased HDL cholesterol concentration, Elev... ORPHA:70591
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Reactive Arthritis
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Arthritis, Inflammati... ORPHA:29207
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating total IgM, Decreased circulating IgG level, Increased circulating IgE level... OMIM:619752
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Decreased circulating IgG level, Increased circulating antibody ... ORPHA:169160
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Insulin-Resistance Syndrome Type B
Autoimmunity, Decreased circulating complement factor B concentration, Increased circulating IgA ... ORPHA:2298
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Tremor, Optic atrophy, Anemia, Increased blood urea nitrogen... ORPHA:90321
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level OMIM:212050
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Acute Bilirubin Encephalopathy
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Caffey Disease
Increased circulating antibody level ORPHA:1310
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Abdominal pain, Feeding difficulties i... ORPHA:3260
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul... OMIM:619708
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Igg4-Related Dacryoadenitis And Sialadenitis
Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinuclear anti... ORPHA:79078
Multiple Myeloma
Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ... ORPHA:29073
Sarcoidosis, Susceptibility To, 1
Anorexia, Iridocyclitis, Bronchiectasis, Uveitis, Arthritis, Inflammation of the large intestine,... OMIM:181000
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Decreased circulating IgG level, Bone marrow hypocellularity, Antine... OMIM:301078
Wiskott-Aldrich Syndrome
Recurrent respiratory infections, Sinusitis, Eczema, Keratitis, Hematemesis, Chronic diarrhea, Se... ORPHA:906
Plague
Glossitis, Chapped lip, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Lymphadenitis, Hem... ORPHA:707
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Feeding difficulties, Recurrent infections, Decreased serum zinc, Esophagitis, Hepatic failure ORPHA:541423
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Autoimmune antibody positivity ORPHA:90003
Fumarase Deficiency
Necrotizing enterocolitis, Hepatic failure, High palate, Hyperbilirubinemia OMIM:606812
Ataxia-Telangiectasia
Diabetes mellitus, Tremor, Acute lymphoblastic leukemia, Glucose intolerance, T lymphocytopenia, ... OMIM:208900
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen... ORPHA:79330
Igg4-Related Kidney Disease
Rheumatoid factor positive, Increased circulating IgG4 level, Antinuclear antibody positivity, In... ORPHA:449395
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Sensorineural hearing impairment, Abnor... ORPHA:760
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level OMIM:618523
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Optic atrophy OMIM:609541
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... OMIM:609136
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Optic atrophy ORPHA:320406
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level OMIM:619767
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Schnitzler Syndrome
Increased circulating IgM level ORPHA:37748
Herpes Simplex Virus Encephalitis
EEG abnormality, Leukocytosis, Neutrophilia ORPHA:1930
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level OMIM:147060
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Leukopenia, Neutrophilia, Diabetes mellitus ORPHA:36238
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Autoimmunity ORPHA:2902
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Posteriorly rotated ears, Low-set ears OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Hearing impairment OMIM:620114
Tick-Borne Encephalitis
Increased circulating IgG level, Abnormality of serum cytokine level, Increased circulating IgM l... ORPHA:297
Rift Valley Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:319251
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Achalasia, Elevated circulating creatine kinase concentration, Esophagitis, Feeding difficulties OMIM:615356
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level ORPHA:217390
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Tremor, Splenome... OMIM:613179
Relapsing Fever
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia ORPHA:91547
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level, Anti-glutamic acid decarboxylase antibody positivity, Autoimmune... OMIM:304790
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Macrotia, Optic nerve hypoplasia, EEG with generalized slow activity OMIM:617864
Prolidase Deficiency
Increased circulating antibody level, Systemic lupus erythematosus OMIM:170100
Hereditary Hyperekplexia
Gastroesophageal reflux, Esophagitis, Hiatus hernia ORPHA:3197
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Low-set ears ORPHA:2268
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Decreased lymphocyte proliferation in response to anti-CD3, Increase... OMIM:606367
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally low T cell recep... OMIM:602450
Q Fever
Antiphospholipid antibody positivity, Rheumatoid factor positive, Anticardiolipin IgG antibody po... ORPHA:781
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Recurrent pneumonia, Pneumonia, Esophagitis ORPHA:3348
Papa Syndrome
Increased circulating antibody level ORPHA:69126
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Incr... OMIM:102700
Cerebrotendinous Xanthomatosis
Optic disc pallor, Resting tremor, Abnormal auditory evoked potentials, Optic neuropathy, Decreas... ORPHA:909
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:275350
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Netherton Syndrome
Decreased circulating IgG level, Increased circulating IgE level OMIM:256500
Primary Intestinal Lymphangiectasia
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:90362
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Hearing impairment OMIM:620327
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Autoimmunity, Systemic lupus erythematosus, Decreased circulating total IgM, Rheumatoid arthritis... ORPHA:183675
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Ane... ORPHA:508542
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Hypoglycinemia, Hyposerinemia, Feeding difficulties, Gastroesophageal reflux, Vomiting, Esophagitis ORPHA:79351
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Decreased circulating IgA level OMIM:618282
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Tularemia
Increased circulating antibody level ORPHA:3392
Sandhoff Disease, Infantile Form
Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level ORPHA:1493
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Anemia ORPHA:54251
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Leishmaniasis
Increased circulating antibody level ORPHA:507
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha... OMIM:617137
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... ORPHA:171929
Cockayne Syndrome A
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:216400
Encephalitis Lethargica
Increased circulating antibody level, Autoimmunity ORPHA:83600
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Decreased circulating IgA level OMIM:242860
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat... OMIM:256040
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Hypercalcemia, Diarrhea, Zollinger-Ellison syndrome, Esophagitis OMIM:131100
Coccidioidomycosis
Increased circulating IgG level, Increased circulating IgM level ORPHA:228123
Agammaglobulinemia, X-Linked
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circula... OMIM:300755
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Sensorineural hearing impa... OMIM:612541
Developmental And Epileptic Encephalopathy 49
EEG abnormality, Exaggerated startle response, Macrotia, Optic atrophy OMIM:617281
Brucellosis
Increased circulating IgG level, Increased circulating IgM level, Rheumatoid factor positive ORPHA:1304
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:607143
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level OMIM:313900
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response, Hepatosplenomegaly OMIM:268800
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Hypercalcemia, Peptic ulcer,... ORPHA:913
Tay-Sachs Disease
Exaggerated startle response, Tremor, Optic atrophy, Hepatosplenomegaly, Dystonia, Laryngeal dyst... ORPHA:845
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... OMIM:600802
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Asparagine Synthetase Deficiency
Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Hypsarr... OMIM:615574
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Low-set ears, Dystonia, Macrotia, Hearing impai... ORPHA:79255
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:620040
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... ORPHA:521426
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Partial IgA deficiency, Lack of T cell function, Decreased circulating total IgM, Decreased lymph... ORPHA:35078
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased circulating antibody level,... ORPHA:221139
Igg4-Related Ophthalmic Disease
Antinuclear antibody positivity, Increased circulating IgE level, Increased circulating IgG4 level ORPHA:449563
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells OMIM:617099
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Igg4-Related Pachymeningitis
Complement deficiency, Increased circulating IgG4 level ORPHA:449427
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
External ear malformation, Exaggerated startle response, Dystonia ORPHA:438216
Diamond-Blackfan Anemia 7
Recurrent otitis media, Esophagitis, Cleft palate, Recurrent infections OMIM:612562
Zika Virus Disease
Increased circulating IgM level ORPHA:448237
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Esophageal Atresia
Recurrent respiratory infections, Barrett esophagus, Intestinal malrotation, Feeding difficulties... ORPHA:1199
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy, Low-set ears OMIM:617301
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Liver Failure, Infantile, Transient
Decreased circulating IgG level OMIM:613070
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Turner Syndrome Due To Structural X Chromosome Anomalies
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... ORPHA:99413
Turner Syndrome
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... ORPHA:881
Mosaic Monosomy X
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... ORPHA:99228
Monosomy X
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... ORPHA:99226
Immunodeficiency 47
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:300972
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level OMIM:616395
Microgastria-Limb Reduction Defect Syndrome
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist... ORPHA:2538
Pneumocystosis
Increased circulating antibody level ORPHA:723
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased circulating IgE level, Decreased circulating antibody level, Decreased circulating tota... ORPHA:508533
Crimean-Congo Hemorrhagic Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:99827
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Autoimmunity, Decreased circulating antibody level, Decreased c... ORPHA:90363
Aspergillosis
Increased circulating IgE level ORPHA:1163
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Posteriorly rotated ears, Exaggerated startle response, Optic atrophy, Low-set ears OMIM:617527
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:612301
Mgat2-Cdg
Decreased circulating IgG level, Impaired platelet aggregation, Decreased lymphocyte proliferatio... ORPHA:79329
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Immunodeficiency 17
Autoimmune hemolytic anemia, Chronic decreased cirulating IgG2 OMIM:615607
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Optic atrophy OMIM:253800
Lassa Fever
Increased circulating IgM level ORPHA:99824
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Decreased circulating IgA level OMIM:212065
Mowat-Wilson Syndrome
Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Gastrointestinal ... ORPHA:2152
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating IgG level, Increased circulating antibody level ORPHA:91500
Mucopolysaccharidosis-Plus Syndrome
Increased circulating IgM level, Bone marrow hypocellularity OMIM:617303
Lead Poisoning
Abnormality of humoral immunity, Increased circulating IgE level ORPHA:330015
Bloom Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:210900
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level OMIM:601675
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level ORPHA:2314
Bloom Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:125
Vici Syndrome
Decreased circulating IgG2 level, Cutaneous anergy, Decreased circulating IgG level, Decreased T ... OMIM:242840
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Aganglionic megacolon, Anemia ORPHA:935
Riddle Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level ORPHA:420741
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Transient hypogammaglobulinemia of infancy, Impaired neutrophil ... ORPHA:3132
Multiple Endocrine Neoplasia Type 4
Peptic ulcer, Hypercalcemia, Diarrhea, Episodic abdominal pain, Zollinger-Ellison syndrome, Esoph... ORPHA:276152
Ebola Hemorrhagic Fever
Increased circulating antibody level ORPHA:319218
Scleromyxedema
Paraproteinemia ORPHA:167635
Viss Syndrome
Increased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level OMIM:619472
Japanese Encephalitis
Increased circulating IgM level, Increased circulating antibody level ORPHA:79139
Gaucher Disease Type 1
Increased circulating antibody level ORPHA:77259
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Increased circulating IgM level, Decreased circulating IgG level, Bone marrow hypocellularity ORPHA:505248
Cystic Echinococcosis
Increased circulating antibody level ORPHA:400
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Poems Syndrome
Increased circulating antibody level ORPHA:2905
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level OMIM:617591
Al Amyloidosis
Increased circulating antibody level ORPHA:85443
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:620005
Dubowitz Syndrome
Decreased circulating IgG level, Decreased circulating IgA level OMIM:223370
Hyper-Igd Syndrome
Increased circulating IgD level, Increased circulating IgA level OMIM:260920
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination