Gene Summary

Name:
tumor necrosis factor receptor superfamily, member 9
Synonyms:
Cd137,  Ly63,  4-1BB,  CDw137,  ILA,  A930040I11Rik

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
preweaning lethality, incomplete penetrance Tnfrsf9tm1b(EUCOMM)Wtsi HOM   Early adult 0.00

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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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Tnfrsf9 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Tnfrsf9 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Immunodeficiency 40
Lymphopenia OMIM:616433
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... OMIM:615897
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:312863
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency 25
Increased circulating IgA level, Eosinophilia, Complete or near-complete absence of specific anti... OMIM:610163
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... OMIM:618534
Immunodeficiency 8
Lymphopenia OMIM:615401
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul... OMIM:619632
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:605258
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:608106
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... OMIM:247630
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:601859
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... OMIM:153600
Immunodeficiency 44
Decreased circulating IgA level, Lymphopenia, Decreased circulating total IgM, Abnormal circulati... OMIM:616636
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga... OMIM:613500
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:613502
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 50
Neutropenia, Decreased circulating antibody level, Lymphopenia OMIM:300988
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir... OMIM:618944
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:607271
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... ORPHA:859
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... OMIM:619924
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Mahvash Disease
Increased glucagon level, Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cel... OMIM:619290
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neu... OMIM:615285
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... OMIM:618982
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ... OMIM:618987
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Lipase Deficiency, Combined
Type II diabetes mellitus, Pancreatitis OMIM:246650
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Abnormal circulating IgM level, Increased circulating IgG level,... OMIM:618048
Immunodeficiency 15B
Agammaglobulinemia, Decreased circulating antibody level OMIM:615592
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169154
Myeloma, Multiple
Paraproteinemia OMIM:254500
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti... OMIM:300291
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613501
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:300400
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:603909
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... OMIM:308230
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Diabetes mellitus, Insulin resistance, Hepatic stea... ORPHA:79084
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... OMIM:619824
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci... OMIM:618969
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... OMIM:619281
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Hepatosplenomegaly, Decreased c... OMIM:618261
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Increased circulating IgE level, Decreased... OMIM:615767
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Bone Marrow Failure Syndrome 5
Anemia, Decreased circulating antibody level, Pure red cell aplasia OMIM:618165
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Hypereosinophilia... OMIM:617388
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... OMIM:240500
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen... OMIM:301082
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Kimura Disease
Eosinophilia, Increased circulating IgE level ORPHA:482
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia OMIM:616873
Iga Pemphigus
Eosinophilia, Monoclonal elevation of circulating IgA, Increased circulating IgA level ORPHA:555905
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Mu-Heavy Chain Disease
Increased circulating antibody level, Anemia, Abnormal B cell count, Splenomegaly ORPHA:100024
Immunodeficiency 61
Agammaglobulinemia OMIM:300310
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Thrombocytopenia 1
Increased circulating IgA level, Congenital thrombocytopenia, Decreased mean platelet volume, Int... OMIM:313900
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Defective T cell proliferatio... OMIM:619774
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia OMIM:193670
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Neutrophilia, Leukocytosis, Increased circulating IgM level, Inc... OMIM:617099
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level OMIM:614069
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Autoimmune thrombocytopenia, Decreased proportion... OMIM:619846
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope... OMIM:267500
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb... OMIM:614470
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Increased circulating IgG level, Splenomegaly OMIM:618495
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:618394
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG level, T... OMIM:209950
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... OMIM:600903
Congenital Pancreatic Cyst
Pancreatitis, Jaundice ORPHA:313906
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia ORPHA:158014
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Lymphopenia, B lymphocytopenia, T lymphocytopenia, Abnormality of humora... ORPHA:277
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... ORPHA:70593
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Lymphopenia, Leukopenia, Increased circulating IgG level, Thromb... OMIM:615934
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema... OMIM:617006
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... OMIM:619510
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Lymphopenia, Splen... OMIM:617514
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... ORPHA:2585
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Abnor... ORPHA:331206
Trichothiodystrophy 3, Photosensitive
Neutropenia, Increased circulating IgA level, Lymphopenia OMIM:616395
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169160
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased proportion of class-switched memory B cells, Decreased circulating IgA level, Decreased... OMIM:614878
Caffey Disease
Increased circulating antibody level ORPHA:1310
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Insulin-dependent but k... OMIM:608189
Immunodeficiency 104
T lymphocytopenia, Splenomegaly OMIM:608971
Tempi Syndrome
Increased hematocrit, Polycythemia, Increased circulating IgG level ORPHA:284227
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, B ly... OMIM:616005
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Immunodeficiency 92
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... OMIM:619652
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Decreased circulating antib... OMIM:613101
Transcobalamin Ii Deficiency
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... OMIM:275350
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport... OMIM:243700
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... OMIM:300853
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, Decr... OMIM:616100
Bone Marrow Failure Syndrome 4
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Thrombocyt... OMIM:618116
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis OMIM:607624
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Decreased circula... ORPHA:29073
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:617062
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Increased circulating IgA level, Lymphopenia, Neutro... ORPHA:443811
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... OMIM:619752
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia OMIM:601457
Simple Cryoglobulinemia
Complement deficiency, Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Chro... ORPHA:91139
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Aplastic anemia, B lymphocytopenia, Increased proportion of CD25+ mast cells, P... ORPHA:2442
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Reticulocytosis, Abnorm... ORPHA:3261
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... OMIM:619705
Hyper-Igd Syndrome
Increased circulating IgA level, Neutrophilia, Leukocytosis, Splenomegaly, Increased circulating ... OMIM:260920
Igg4-Related Aortitis
Increased circulating antibody level, Complement deficiency, Increased circulating IgG4 level, Hy... ORPHA:449400
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... OMIM:615607
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Alpha-Heavy Chain Disease
Anemia, Dysgammaglobulinemia, Splenomegaly ORPHA:100025
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Apla... OMIM:308240
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Decre... ORPHA:276
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia OMIM:607676
Autoimmune Lymphoproliferative Syndrome, Type Iii
Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatosplenomegal... OMIM:615559
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
Boutonneuse Fever
Increased circulating IgM level, Leukopenia, Thrombocytopenia, Increased circulating IgG level ORPHA:83313
Immunodeficiency 68
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia OMIM:612260
Immune Deficiency Disease
Decreased circulating total IgM OMIM:242850
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia OMIM:251190
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatitis, Pancreatic pseudocyst, Diabetes mellitus, Pancre... OMIM:167800
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... OMIM:301000
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Complete or near-complete absence of specific ant... OMIM:613496
Schnitzler Syndrome
Anemia, Increased circulating IgM level, Leukocytosis, Splenomegaly ORPHA:37748
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level OMIM:616910
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Reticular Dysgenesis
Abnormality of neutrophils, Anemia, Decreased circulating antibody level, Leukopenia ORPHA:33355
Chylous Ascites
Pancreatitis ORPHA:1160
Peeling Skin Syndrome 1
Eosinophilia, Increased circulating IgE level OMIM:270300
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Partial absence of sp... OMIM:618108
Gallbladder Disease 1
Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Hepatic fibrosis, Cholesterol gallstone... OMIM:600803
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Decreased proportion of CD4-positive T cells OMIM:301045
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:615577
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Splenomegaly, Lymphopenia OMIM:605309
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia, Increased circulating IgE level OMIM:618523
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD3-pos... ORPHA:275
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Decreased proportio... ORPHA:911
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level OMIM:616576
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Cholestasis, Benign Recurrent Intrahepatic, 1
Intermittent jaundice, Pancreatitis, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice OMIM:243300
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia OMIM:619693
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt... OMIM:301081
Hereditary Chronic Pancreatitis
Pancreatic calcification, Jaundice, Recurrent pancreatitis, Diabetes mellitus ORPHA:676
Adult Idiopathic Neutropenia
Lymphopenia, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopenia ORPHA:2688
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Neutropenia OMIM:600351
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia ORPHA:217390
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Immunodeficiency 66
Defective T cell proliferation, Pustule, Recurrent skin infections OMIM:618847
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis OMIM:618230
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly OMIM:619126
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Lymphoproliferative Syndrome, X-Linked, 2
Hemophagocytosis, Splenomegaly, Aplastic anemia, Decreased circulating antibody level, Pancytopenia OMIM:300635
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hepatic steatosis, Pancreatitis, Hypoglycemia OMIM:619386
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... ORPHA:35078
Tropical Pancreatitis
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-... ORPHA:103918
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Abscess, Impaired neutrophil chemotaxis, De... OMIM:619374
Leishmaniasis
Increased circulating antibody level, Splenomegaly, Leukopenia, Abnormal macrophage morphology, P... ORPHA:507
Immunodeficiency 43
Decreased circulating IgG level OMIM:241600
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells OMIM:615758
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Jau... ORPHA:65682
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Increased circulating IgE level OMIM:147060
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev... OMIM:242860
Primary Biliary Cholangitis
Increased circulating IgA level, Increased circulating IgM level ORPHA:186
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody... OMIM:619767
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level ORPHA:69126
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level OMIM:615190
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Cystic Fibrosis
Decreased circulating antibody level ORPHA:586
Pyoderma Gangrenosum
Increased circulating antibody level, Myeloid leukemia ORPHA:48104
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Leukocytosis, Hypochromic anemia, Increased circulating IgG level... OMIM:618213
C3 Glomerulopathy
Decreased serum complement C3, Decreased serum complement C4, Paraproteinemia ORPHA:329918
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Panhypogammaglobulinemia... OMIM:600802
Dyskeratosis Congenita, Digenic
Anemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating t... OMIM:620040
Insulin-Resistance Syndrome Type B
Decreased serum complement factor B, Increased circulating IgA level, Leukopenia, Increased circu... ORPHA:2298
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased... OMIM:613011
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating IgA level, Lymphopenia, Splenomegaly, Absent specific antibody response, Ap... OMIM:102700
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Hemophagocytosis, Splenomegaly, Hepato... OMIM:615122
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... ORPHA:90362
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia OMIM:256500
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased lymphocyte proliferation in response to anti-CD3, Partial absence of specific antibody ... OMIM:618986
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:612301
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Maternal diabetes, Insulin-resistant diabete... ORPHA:79083
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Thrombocytopenia, Increased circulating IgA level, Increased ci... ORPHA:79078
Immunodeficiency 23
Lymphopenia, Eosinophilia, Increased circulating IgG level, Hemolytic anemia, Increased circulati... OMIM:615816
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Panhypogammaglobulinemia ORPHA:251009
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:614700
Tularemia
Increased circulating antibody level, Anemia, Thrombocytopenia, Leukocytosis ORPHA:3392
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating antibody level, Increased circulating interleukin 6 concentration, Increase... OMIM:256040
Primary Lipodystrophy
Type II diabetes mellitus, Pancreatitis, Splenomegaly, Cirrhosis, Insulin resistance, Hepatic ste... ORPHA:90970
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Pancreatitis, Hepatomegaly OMIM:618805
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... OMIM:619313
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Neutropenia, ... ORPHA:572
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytope... OMIM:301078
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hepatocellular carcinoma, Hepatic fibrosis, Portal inflammation, Hepatic steatosis,... OMIM:603471
Autoimmune Hepatitis
Increased circulating antibody level, Increased circulating IgG level, Splenomegaly ORPHA:2137
Hereditary Folate Malabsorption
Megaloblastic anemia, Eosinophilia, Decreased circulating antibody level, Pancytopenia, Thrombocy... ORPHA:90045
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Complement deficiency, Eosinophilia, Increased circulating ... ORPHA:449432
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor excision circle ... OMIM:602450
Sézary Syndrome
Abnormal lymphocyte morphology, Abnormal immunoglobulin level, Splenomegaly ORPHA:3162
Agammaglobulinemia, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Complete or near-complete absen... OMIM:300755
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Pancreatitis, Hepatomegaly, Insulin-resistant diabetes mellitus ORPHA:435651
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... OMIM:242700
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:540
Postinfectious Vasculitis
Increased circulating antibody level, Cryoglobulinemia, Increased circulating IgA level, Abnormal... ORPHA:48435
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Splenomegaly, Diabetes mellitus, Insulin resistance, Hepatic steatosis ORPHA:2348
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... OMIM:304790
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Panhypogammaglobulinemia, Decreased circulating antibody level, Neutropenia, A... OMIM:601495
Adult Acute Respiratory Distress Syndrome
Diabetic ketoacidosis, Pancreatitis, Pneumonia ORPHA:70578
Pneumocystosis
Increased circulating antibody level, Abnormal neutrophil count ORPHA:723
Bare Lymphocyte Syndrome, Type Ii
Agammaglobulinemia, Cutaneous anergy, Neutropenia, Panhypogammaglobulinemia OMIM:209920
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Hypereosinophilia, Leukocytosis ORPHA:2902
Maple Syrup Urine Disease
Hypoglycemia, Pancreatitis OMIM:248600
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Decreased circulating IgA level, Leukemia OMIM:208910
Prolidase Deficiency
Increased circulating antibody level, Anemia, Thrombocytopenia, Splenomegaly OMIM:170100
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Microcytic anemia, Decreased circulating antibody level OMIM:619750
Ataxia-Telangiectasia
Decreased circulating antibody level, Lymphopenia ORPHA:100
Thymic Tumor
Dysgammaglobulinemia ORPHA:100100
Icf Syndrome
Abnormality of neutrophils, Anemia, Decreased circulating antibody level, Lymphopenia ORPHA:2268
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Splenomegaly, Eczema, Lymphadenitis, Hepatosplenomegaly, Acute pancreatitis, Rec... OMIM:618935
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Autoimmune thrombocytop... OMIM:615952
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen ORPHA:543
Roifman Syndrome
Eosinophilia, Decreased circulating antibody level, Hepatosplenomegaly ORPHA:353298
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Pancreatitis, Hepatomegaly, Splenomegaly ORPHA:79312
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level, Neutropenia OMIM:608809
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Pancreatitis, Hepatomegaly ORPHA:289916
Selective Igm Deficiency
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell... ORPHA:331235
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Iridocyclitis, Type II diabetes mellitus, Pancreatitis, Hypothyroidism, Type I diabetes mellitus ORPHA:412057
Rat-Bite Fever
Oligoarthritis, Pancreatitis, Pustule, Skin rash, Maculopapular exanthema, Lymphadenitis, Endocar... ORPHA:31205
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Recurrent pancreatitis OMIM:145001
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hypoglycemia, Tubulointerstitial nephritis, Pancreatitis, Hepatomegaly OMIM:251000
Seckel Syndrome 10
Glucose intolerance, Elevated circulating luteinizing hormone level, Glycosuria, Impaired glucose... OMIM:617253
Immunodeficiency 47
Splenomegaly, Decreased circulating total IgA, Decreased circulating total IgM, Leukopenia, Chron... OMIM:300972
Zika Virus Disease
Thrombocytopenia, Increased circulating IgM level ORPHA:448237
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Lymphopenia, Splenomegaly, Anemia, Thrombocytopenia OMIM:617591
Mogs-Cdg
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... ORPHA:79330
Ebola Hemorrhagic Fever
Increased circulating antibody level, Leukopenia, Thrombocytopenia, Lymphopenia ORPHA:319218
Legionnaires Disease
Pancreatitis, Splenomegaly, Endocarditis, Myocarditis, Hepatitis, Infectious encephalitis, Bone m... ORPHA:549
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating antibody level OMIM:606056
Propionic Acidemia
Hypoglycemia, Eczema, Pancreatitis, Hepatomegaly OMIM:606054
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Trichothiodystrophy 5, Nonphotosensitive
Decreased circulating antibody level OMIM:300953
Immunodeficiency 56
Panhypogammaglobulinemia OMIM:615207
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Impaired T cell function, Po... OMIM:258900
Igg4-Related Pachymeningitis
Increased circulating IgG4 level, Complement deficiency, Lymphadenitis, Eosinophilia ORPHA:449427
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Griscelli Syndrome
Splenomegaly, Leukopenia, Abnormality of neutrophils, Decreased circulating antibody level, Bone ... ORPHA:381
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Rift Valley Fever
Increased circulating IgM level, Anemia, Thrombocytopenia, Increased circulating IgG level ORPHA:319251
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... ORPHA:221139
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Acute pancreatitis, Insulin-resistant diabetes mellitu... ORPHA:79086
Vitamin B12-Unresponsive Methylmalonic Acidemia
Pancreatitis, Hepatomegaly ORPHA:27
Good Syndrome
Abnormal leukocyte morphology, Anemia, Thrombocytopenia, Decreased circulating antibody level ORPHA:169105
Ataxia-Telangiectasia
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Hypoplasia of the ... OMIM:208900
Microscopic Polyangiitis
Sinusitis, Pancreatitis, Skin rash, Peritonitis, Arthritis, Uveitis, Increased inflammatory respo... ORPHA:727
Hyperlipoproteinemia, Type Id
Colitis, Pancreatitis, Hepatomegaly, Splenomegaly, Recurrent pancreatitis OMIM:615947
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Decreased circulating antibody level, Iron deficiency anemia OMIM:226300
Lassa Fever
Increased circulating IgM level ORPHA:99824
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Decreased circulating IgA level, Splenomegaly, Hypersplenism, Pancytopenia OMIM:613385
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Decreased circula... OMIM:616084
Tick-Borne Encephalitis
Leukocytosis, Leukopenia, Increased circulating IgG level, Abnormality of serum cytokine level, I... ORPHA:297
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgM level, Increased circulating IgG level ORPHA:562639
Familial Chylomicronemia Syndrome
Jaundice, Hepatosplenomegaly, Acute pancreatitis, Perianal abscess, Recurrent pancreatitis, Diabe... ORPHA:444490
Gaucher Disease Type 1
Increased circulating antibody level, Splenomegaly, Leukopenia, Pancytopenia, Anemia, Thrombocyto... ORPHA:77259
Thymoma
Abnormal lymphocyte physiology, Aplastic anemia, Decreased circulating antibody level, Abnormal l... ORPHA:99867
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Decreased proportio... ORPHA:508533
Primary Sclerosing Cholangitis
Cholelithiasis, Neoplasm of the gallbladder, Cholangiocarcinoma, Abnormal biliary tract morpholog... ORPHA:171
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level ORPHA:1493
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly OMIM:207750
Autosomal Agammaglobulinemia
Agammaglobulinemia, Neutropenia ORPHA:33110
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Impaired T cell function, Abnormal lymphocyte physiology, Bone marrow hypocellulari... ORPHA:1830
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro... OMIM:613179
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Pancreatitis OMIM:145980
Igg4-Related Thyroid Disease
Increased circulating IgG4 level ORPHA:64744
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, Panhypogammaglobulinemia, T lymphocytopenia, Abnormal circulating interleukin... ORPHA:79124
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Decreased circulating IgA level, Iron deficiency anemia, Macrocytic anemia OMIM:212750
Microsporidiosis
Keratitis, Sinusitis, Prostatitis, Pancreatitis, Osteomyelitis, Nephritis, Lymphadenitis, Periton... ORPHA:2552
Bloom Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Elevated hemoglobin A1c, Decrea... OMIM:210900
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Glycogen Storage Disease Ib
Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Gout, In... OMIM:232220
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Anemia, Lymphopenia ORPHA:935
Cach Syndrome
Hepatosplenomegaly, Optic neuritis, Pancreatitis ORPHA:135
Dysbetalipoproteinemia
Hepatomegaly, Gout, Hypothyroidism, Acute pancreatitis, Diabetes mellitus, Hepatic steatosis ORPHA:412
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Aspiration pneumonia, Pancreatitis ORPHA:431361
Immunodeficiency 59 And Hypoglycemia
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:233600
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Impaired T cell function, Pa... OMIM:614576
Igg4-Related Kidney Disease
Prostatitis, Pancreatitis, Inflammatory abnormality of the skin, Increased circulating IgG1 level... ORPHA:449395
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Lymphopenia, Decreased circulating total IgM, Decreased circulat... ORPHA:90363
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Decreased circulating antibody level, Lymphopenia OMIM:617425
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor... OMIM:243150
Liver Failure, Infantile, Transient
Decreased circulating IgG level OMIM:613070
Glycogen Storage Disease Ia
Pancreatitis, Hepatomegaly, Hepatocellular carcinoma, Gout, Hypoglycemia, Fasting hypoglycemia OMIM:232200
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia, Increased circulating IgE level ORPHA:2314
Pigmented Nodular Adrenocortical Disease, Primary, 2
Primary hypercortisolism, Pancreatitis, Increased circulating cortisol level OMIM:610475
Systemic Capillary Leak Syndrome
Pericarditis, Pancreatitis, Myocarditis ORPHA:188
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased specific pneumococcal antibody level, Decreased circulating IgA level, Decreased circul... ORPHA:183675
Scleromyxedema
Paraproteinemia ORPHA:167635
Hereditary Orotic Aciduria
Anemia, Impaired T cell function, Splenomegaly ORPHA:30
Cystic Echinococcosis
Increased circulating antibody level, Eosinophilia, Splenic cyst ORPHA:400
Hypocalciuric Hypercalcemia, Familial, Type Ii
Primary hyperparathyroidism, Pancreatitis OMIM:145981
Popov-Chang syndrome
Decreased circulating antibody level, Lymphopenia OMIM:618428
Riddle Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM ORPHA:420741
Lipodystrophy, Congenital Generalized, Type 4
Decreased circulating IgA level, Splenomegaly OMIM:613327
Aspergillosis
Eosinophilia, Increased circulating IgE level, Neutropenia ORPHA:1163
Schimke Immunoosseous Dysplasia
Neutropenia, Lymphopenia, Thrombocytopenia, Abnormal immunoglobulin level, Decreased circulating ... OMIM:242900
Acute Lung Injury
Acute pancreatitis, Pneumonia ORPHA:178320
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Severe B lymphocyt... OMIM:620005
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Pancreatitis OMIM:236200
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Pancreatitis, Hepatomegaly, Splenomegaly, Diabetes mellitus, Insulin resistance, Hepatic steatosis ORPHA:280365
Coccidioidomycosis
Osteomyelitis, Pancreatitis, Folliculitis, Skin rash, Peritonitis, Abnormality of the spleen, Inc... ORPHA:228123
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Decreased circulating IgA level, Decreased circulating IgG level OMIM:212065
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Common Variable Immunodeficiency
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Decreased circulating a... ORPHA:1572
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hepatomegaly, Type II diabetes mellitus, Acute pancreatitis, Insulin-resistant ... OMIM:151660
Vici Syndrome
Decreased circulating IgG level, Decreased T cell activation, Decreased proportion of CD4-positiv... OMIM:242840
Bloom Syndrome
Decreased circulating IgA level, Abnormal proportion of CD8-positive T cells, Decreased circulati... ORPHA:125
Mccune-Albright Syndrome
Elevated circulating growth hormone concentration, Pancreatitis, Hyperthyroidism, Increased circu... ORPHA:562
Zygomycosis
Splenic abscess, Sinusitis, Colitis, Pancreatitis, Gastritis, Nephritis, Enterocolitis, Pustule, ... ORPHA:73263
Mevalonic Aciduria
Leukocytosis, Fluctuating splenomegaly, Increased circulating IgD level, Normocytic hypoplastic a... OMIM:610377
Caroli Syndrome
Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cirrhosis, Congenital hepatic fibrosis, Intrahepa... ORPHA:480520
Poems Syndrome
Polycythemia, Increased circulating antibody level, Thrombocytosis ORPHA:2905
Mirizzi Syndrome
Cholelithiasis, Pancreatitis, Jaundice, Cholesterol gallstones, Gallbladder perforation, Abnormal... ORPHA:521219
Mucopolysaccharidosis-Plus Syndrome
Splenomegaly, Leukopenia, Increased circulating IgM level, Neutropenia, Bone marrow hypocellulari... OMIM:617303
Gaucher Disease Type 3
Increased circulating antibody level, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia ORPHA:77261
Distal Monosomy 19P13.3
Decreased circulating antibody level ORPHA:96129
Hyperlipoproteinemia, Type I
Hepatosplenomegaly, Pancreatitis, Jaundice, Splenomegaly OMIM:238600
Lead Poisoning
Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphol... ORPHA:330015
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Periodontitis, Pancreatitis, Hepatomegaly, Enterocolitis, Increased hepatic glycogen content, Hep... ORPHA:79259
Immunodeficiency 58
Colitis, Eczema, Chronic otitis media, Decreased specific antibody response to vaccination, Aller... OMIM:618131
Citrullinemia Type Ii
Pancreatitis, Hepatomegaly, Hepatocellular carcinoma, Hepatic fibrosis, Hepatic steatosis ORPHA:247585
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating antibody level OMIM:607143
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Hepatosplenomegaly, Chilblains, Hypothyroidism, Acute pancreatitis, Hepatic fibrosi... OMIM:619487
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:66628
Multiple Acyl-Coa Dehydrogenase Deficiency
Acute pancreatitis, Hepatic periportal necrosis, Hypoglycemia, Hepatomegaly ORPHA:26791
Al Amyloidosis
Increased circulating antibody level, Anemia, Howell-Jolly bodies ORPHA:85443
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Absent circulating B cells, Panhypogammaglobulinemia OMIM:307200
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:179494
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of serum cytokine level, Abnormality of interleukin secretion, Increased serum interf... ORPHA:542323
Dubowitz Syndrome
Decreased circulating IgA level, Acute lymphoblastic leukemia, Decreased circulating IgG level, A... OMIM:223370
Alveolar Echinococcosis
Anemia, Increased circulating antibody level, Abnormal spleen morphology, Eosinophilia ORPHA:284
Igg4-Related Ophthalmic Disease
Keratitis, Sinusitis, Prostatitis, Pancreatitis, Orchitis, Increased circulating IgG4 level, Retr... ORPHA:449563
Familial Mediterranean Fever
Pancreatitis, Orchitis, Skin rash, Splenomegaly, Peritonitis, Osteoarthritis, Erysipelas, Arthrit... ORPHA:342
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Brucellosis
Leukocytosis, Splenomegaly, Leukopenia, Increased circulating IgG level, Thrombocytosis, Increase... ORPHA:1304
Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Pancreatitis, Hepatomegaly, Splenomegaly, Diabetes mellitus ORPHA:565612
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Decreased circulating antibody level, Autoimmune thrombocytopenia, Abno... ORPHA:293978
Q Fever
Increased circulating antibody level, Splenomegaly, Cryoglobulinemia, Hepatosplenomegaly, Anemia,... ORPHA:781
Behçet Disease
Optic neuritis, Pancreatitis, Orchitis, Splenomegaly, Endocarditis, Myositis, Keratoconjunctiviti... ORPHA:117
Mgat2-Cdg
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Impai... ORPHA:79329
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Splenomegaly OMIM:201100
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Pancreatitis, Jaundice ORPHA:370348
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Decreased circulating IgG level, Leukocytosis, Anisocytosis, H... OMIM:618278
3-Hydroxy-3-Methylglutaric Aciduria
Lipid accumulation in hepatocytes, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Rec... ORPHA:20
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating IgA level, Decreased circulating total IgM ORPHA:369837
Cysticercosis
Increased circulating antibody level ORPHA:1560
Whim Syndrome
Lymphopenia, Lymphadenitis, Decreased circulating antibody level, Neutropenia, Abnormality of neu... ORPHA:51636
Autoimmune Polyendocrinopathy Type 4
Leukopenia, Autoimmune thrombocytopenia, Macrocytic anemia, Non-caseating epithelioid cell granul... ORPHA:227990
Melas
Hypoparathyroidism, Type II diabetes mellitus, Hypothyroidism, Type I diabetes mellitus, Recurren... ORPHA:550
Cystic Fibrosis
Exocrine pancreatic insufficiency, Pancreatitis, Hepatomegaly, Cirrhosis, Hepatosplenomegaly, Chr... OMIM:219700
Hypocalciuric Hypercalcemia, Familial, Type Iii
Primary hyperparathyroidism, Pancreatitis OMIM:600740
Lipodystrophy, Congenital Generalized, Type 1
Hyperinsulinemia, Hepatomegaly, Splenomegaly, Cirrhosis, Acute pancreatitis, Insulin-resistant di... OMIM:608594
Immunodeficiency 82 With Systemic Inflammation
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of naive T cells,... OMIM:619381
Diarrhea 10, Protein-Losing Enteropathy Type
Decreased circulating antibody level OMIM:618183
Cowden Syndrome 1
Decreased circulating antibody level, Lymphopenia OMIM:158350
Idiopathic Hypereosinophilic Syndrome
Colitis, Pancreatitis, Inflammatory abnormality of the skin, Splenomegaly, Eczema, Chronic hepati... ORPHA:3260
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Decreased circulating IgG level, Hepatosplenomegaly, Leukopenia, Increased circulating IgM level,... ORPHA:505248
Thymic Aplasia
Decreased lymphocyte proliferation in response to mitogen, Sinusitis, Eczematoid dermatitis, Chro... ORPHA:83471
Pauci-Immune Glomerulonephritis
Pancreatitis, Tubulointerstitial nephritis, Crescentic glomerulonephritis, Glomerulonephritis, Ar... ORPHA:93126
Say-Barber-Miller Syndrome
Transient hypogammaglobulinemia of infancy, Decreased circulating IgG level, Impaired neutrophil ... ORPHA:3132
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Hepatomegaly, Type II diabetes mellitus, Splenomegaly, Cirrhosis, Acute pancrea... OMIM:269700
Marburg Hemorrhagic Fever
Increased circulating antibody level, Pancreatitis, Orchitis, Skin rash, Maculopapular exanthema,... ORPHA:99826
Granulomatosis With Polyangiitis
Sinusitis, Prostatitis, Pancreatitis, Skin rash, Otitis media, Chronic otitis media, Increased in... ORPHA:900
Autoimmune Polyendocrinopathy Type 3
Leukopenia, Autoimmune thrombocytopenia, Macrocytic anemia, Non-caseating epithelioid cell granul... ORPHA:227982
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating antibody level, Normocytic anemia, Increased circulating IgG level, Reduced... ORPHA:91500
Japanese Encephalitis
Increased circulating antibody level, Neutrophilia, Increased circulating IgM level ORPHA:79139
Glycogen Storage Disease Ic
Chronic pancreatitis, Hepatomegaly, Hepatoblastoma, Hepatocellular carcinoma, Gout, Hypoglycemia OMIM:232240
Lysinuric Protein Intolerance
Increased circulating antibody level, Pancreatitis, Hepatic amyloidosis, Decreased response to gr... ORPHA:470
Crimean-Congo Hemorrhagic Fever
Neutrophilia, Leukocytosis, Splenomegaly, Leukopenia, Increased circulating IgG level, Increased ... ORPHA:99827
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Pancreatitis, Myocarditis, Pneumonia, Diabetes mellitus, Septic arthritis ORPHA:544482
Trichinellosis