Gene: Il23a MGI:1932410

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
interleukin 23, alpha subunit p19
Synonyms:
p19,  IL-23,  IL-23p19

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Il23a 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 Il23a 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 29
Ulcerative colitis, Crohn's disease OMIM:618077
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Defective T cell proliferation OMIM:615615
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Recurrent candida infections, Decreased circulating IgG level, Recurrent bacte... OMIM:242870
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:608106
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:605258
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Immunodeficiency, Common Variable, 14
Defective B cell differentiation, Decreased proportion of class-switched memory B cells, Decrease... OMIM:617765
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Meningitis, Agammaglobulinemia, Recurrent bacterial infections, Recurrent re... OMIM:613500
Immunodeficiency, Common Variable, 7
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... OMIM:614699
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Diarrhea, Recurren... OMIM:613501
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Masp2 Deficiency
Ulcerative colitis, Recurrent pneumonia OMIM:613791
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Decreased circulating IgE, Impaired lymphocyte transformation with phytohemagg... OMIM:300400
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency 40
Lymphopenia OMIM:616433
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Recurrent pneumonia, Recurrent otitis media, Neutropenia, Agammaglobulinemia, ... OMIM:613502
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, Neutrophilia, B lymphocytopenia, Decreased circulating... OMIM:619281
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent protozoan infections, Recurrent viral infections, Rec... OMIM:308220
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Enterocolitis
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia OMIM:226150
Agammaglobulinemia 8, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ... OMIM:618987
Mannose-Binding Lectin Deficiency
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent Klebsiella infections, Recurr... OMIM:614372
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:611926
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impai... OMIM:267500
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Abdominal distention, Secretory diarrhea OMIM:616868
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM, Monoclon... OMIM:153600
Immunodeficiency 51
Recurrent bronchitis, Folliculitis, Cutaneous abscess, Pustule, Chronic oral candidiasis, Recurre... OMIM:613953
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent bronchitis, Recurrent otitis media, Conjunctivitis, Agammaglobulinem... OMIM:612692
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Recurrent respiratory infections, Recurrent bacterial in... OMIM:613495
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Decrea... OMIM:618969
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Agammaglobulinemia, Recurrent bacterial infections, ... OMIM:300310
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Hematochezia, Pyoderma, Colitis, Perianal abscess, Enterocolitis, Crohn's disease OMIM:613148
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... OMIM:601495
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Secretory Component Deficiency
Secretory IgA deficiency OMIM:269650
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Enterocutaneous fistula, Rectovaginal fistula, Perianal abscess, Enterocolitis OMIM:612567
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Immunodeficiency 8
Lymphopenia OMIM:615401
Hirschsprung Disease, Susceptibility To, 1
Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Vomiting, Entero... OMIM:142623
Immunodeficiency By Defective Expression Of Mhc Class Ii
Skin rash, Recurrent Staphylococcus aureus infections, Decreased proportion of CD4-positive helpe... ORPHA:572
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Recurrent viral infections, Leukopenia, Recurrent bacteria... OMIM:310350
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent staphylococcal infections, Recurrent bac... ORPHA:70592
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased circulating IgG level, Decreased p... OMIM:312863
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level OMIM:617744
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect... OMIM:616022
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Immunodeficiency 60
Decreased proportion of memory B cells, Decreased circulating IgE, Decreased basophil count, Panc... OMIM:618394
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Recurrent opportunistic infections, T lymphocytopenia, Failure to thrive secondary to recurrent i... OMIM:601457
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Abdominal pain, Chronic diarrhea, Ileitis, Protein-losing enteropathy, P... OMIM:619079
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Immunodeficiency 48
Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Impaired T ce... OMIM:240500
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Recurrent viral infections,... ORPHA:169079
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Chronic active Epstein-Barr virus infection, Decreased specific anti-polysa... OMIM:300853
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... OMIM:618944
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Decreased proportion of CD... ORPHA:331206
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells, Defective T cell proliferation, R... OMIM:614493
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Skin rash, Recurrent bacterial skin infections, Decreased proportion of CD4-positive helper T cel... ORPHA:276
Immunodeficiency 35
Increased circulating IgE level, Recurrent fungal infections, Recurrent viral infections, Recurre... OMIM:611521
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Cd8 Deficiency, Familial
Bronchiectasis, Absence of CD8-positive T cells, Recurrent viral infections, Recurrent bacterial ... OMIM:608957
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Abdominal pain, Ulcerative colitis, Diarrhea, Recurrent apht... OMIM:266600
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent sinusitis, Perioral eczema, Colitis, Diarrhea, Recurrent aphthous stomatitis OMIM:613960
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent opportunistic infections, Skin rash, Recurrent gastroenteritis, Chronic oral candidiasi... ORPHA:275
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Anti-La/SS-B antibody positivity, Autoimmune antibody positivity,... ORPHA:90283
Diverticulosis, Small-Intestinal
Jejunoileal diverticula, Thyroiditis, Rheumatoid arthritis, Ulcerative colitis, Duodenal divertic... OMIM:223320
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Recurrent fungal infections, Recurrent upper respiratory tract infections, Vira... OMIM:209920
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Decreased circulating IgA level OMIM:215250
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, T lymphocytopenia, Increased circulating IgE level, Recurrent... ORPHA:277
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Recurrent opportunistic infections, T lymphocytopenia, Failure to thrive secondary to recurrent i... OMIM:608971
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Immunodeficiency 15A
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Decreased proportion of memory B... OMIM:618204
Adult Idiopathic Neutropenia
Monocytosis, Increased circulating IgM level, Monocytopenia, Recurrent fungal infections, Helicob... ORPHA:2688
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Hematochezia, Diarrhea, Abdominal pain OMIM:191390
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased proportion of CD3-positive T cells, Lymphopenia, ... ORPHA:169160
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Immunodeficiency 25
T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE level, Autoimmune h... OMIM:610163
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Hemolytic anemia, Decreased c... OMIM:308230
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Immunodeficiency With Hyper-Igm, Type 4
Bronchiectasis, Recurrent upper respiratory tract infections, Autoimmune thrombocytopenia, Autoim... OMIM:608184
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Abnormal serum interleukin level, BCGosis, Histoplasmos... ORPHA:319552
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, L... OMIM:616100
Whim Syndrome 1
Bronchiectasis, Recurrent upper respiratory tract infections, Decreased circulating antibody leve... OMIM:193670
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Atopic dermatitis, Increased circulating IgE level, Recurrent bacterial skin i... ORPHA:217390
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, Skin rash, Inflammation of the ... OMIM:618108
5-Oxoprolinase Deficiency
Vomiting, Enterocolitis, Diarrhea, Abdominal pain OMIM:260005
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, Neonatal sepsis, Decreased proportion of CD4-positive helper T cells, Neutropenia,... ORPHA:169154
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level OMIM:614878
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Transcobalamin Ii Deficiency
Neutropenia, Reticulocytopenia, Pancytopenia, Decreased circulating IgA level, Decreased circulat... OMIM:275350
Myeloma, Multiple
Paraproteinemia OMIM:254500
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Pure red cell aplasia, Anemia OMIM:618165
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Neutropenia, Anemia OMIM:614082
Gastroesophageal Reflux
Esophagitis, Gastroesophageal reflux, Barrett esophagus, Esophageal neoplasm OMIM:109350
Combined Immunodeficiency Due To Zap70 Deficiency
Skin rash, Lymphocytosis, Recurrent bacterial skin infections, Pneumonia, Eosinophilia, Recurrent... ORPHA:911
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Partial IgA deficiency, Lack of T cell function, ... ORPHA:35078
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody lev... OMIM:617514
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Hyperlipoproteinemia, Type Id
Colitis OMIM:615947
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, T lymphocytopenia, Absent natural killer cells, Recurrent upper respiratory tra... OMIM:600802
Specific Granule Deficiency 2
Thrombocytopenia, Absent neutrophil specific granules, Neutropenia, Anemia OMIM:617475
Immunodeficiency 13
T lymphocytopenia, Bronchiectasis, Recurrent upper respiratory tract infections, Recurrent otitis... OMIM:615518
Lichtenstein Syndrome
Decreased circulating IgA level, Neutropenia OMIM:246550
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Immune Deficiency Disease
Recurrent viral infections, Cholangitis, Fulminant hepatitis, Recurrent bacterial infections, Dec... OMIM:242850
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Bronchiectasis, Abnormally low T cell receptor excision circle level, Neutropenia, Pancytopenia, ... OMIM:618986
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Recurrent... ORPHA:331235
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Abnormal macrophage morphology,... ORPHA:2585
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Atopic dermatitis, Recurrent fungal infections, Recurrent viral infections, Recurrent sinopulmona... OMIM:243700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Immunodeficiency 36
Bronchiectasis, Decreased circulating antibody level, Lymphopenia, Chronic lymphatic leukemia, Ch... OMIM:616005
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Recurrent urinary tract infections, Pneumonia, Abnormality of B cell physi... OMIM:613179
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating antibody level, Decreased circulating IgG level, Decreased circulating IgA ... OMIM:617062
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Griscelli Syndrome, Type 2
Hemophagocytosis, Hepatosplenomegaly, Reduced delayed hypersensitivity, Recurrent bacterial infec... OMIM:607624
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Immunodeficiency 46
Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia, Anemia OMIM:616740
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Reduced natural killer cell count, Decreased ... OMIM:242860
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
3-Methylglutaconic Aciduria, Type Vii
Neutropenia OMIM:616271
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Increased circulating IgG level, Increased B cell count, Increas... OMIM:618982
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Thyroiditis, Eczema, T lymphocytopenia, Re... OMIM:606367
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Decreased circulating antibody level OMIM:618042
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Chronic diarrhea, Colitis, Recurrent bronchiolitis, Splenomegaly,... OMIM:619164
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia OMIM:616216
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Abnormally lo... OMIM:619374
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Abnormal natural killer cell physiology, Decreased circulating antibody level, ... OMIM:613101
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Complete or near-complete absence of specific antibody response to t... OMIM:613496
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Recurrent fungal infections, Erythroderma, Recurrent v... OMIM:603554
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Neutropen... ORPHA:443811
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Immunodeficiency 47
Decreased circulating antibody level, Leukopenia, Splenomegaly OMIM:300972
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level OMIM:614069
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia ORPHA:158014
Immunodeficiency 20
Recurrent otitis media, Recurrent sinusitis, Recurrent oral herpes, Severe varicella zoster infec... OMIM:615707
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Rheumatoid arthritis, Systemic lupus erythematosus, Antinuc... OMIM:178610
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Splenomegaly OMIM:618495
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Thrombocytopenia, Anemia, Leukopenia, Bone marrow hypocellu... OMIM:618116
Complement Factor B Deficiency
Peritonitis, Pneumonia, Meningitis, Recurrent meningococcal disease, Recurrent bacterial infections OMIM:615561
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Lymphangiectasia, Intestinal
Lymphopenia, Decreased circulating IgG level OMIM:152800
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia OMIM:612527
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly OMIM:603552
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Increased proportion of CD25+... ORPHA:2442
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Recurrent urinary tract infections, Panhypogam... OMIM:307200
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Hemochromatosis, Type 3
Lymphopenia, Neutropenia, Anemia OMIM:604250
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Ataxia-Telangiectasia
Defective B cell differentiation, T lymphocytopenia, Decreased proportion of CD4-positive helper ... OMIM:208900
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Periodontitis, Lymphopenia, Leukemia, Recurrent viral infections, Pneumonia, Recurre... ORPHA:486
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Dysgammaglobulinemia, Increased ... OMIM:300291
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:605309
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, Lymphopenia, Pancytop... OMIM:617780
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Immunodeficiency 55
Neutropenia OMIM:617827
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Aregenerative Anemia
Erythroid hypoplasia, Abnormality of interleukin secretion, Decreased proportion of CD4-positive ... ORPHA:101096
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Decreased proportion of CD4-positive T cells OMIM:301045
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutro... OMIM:619220
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Insulin Autoimmune Syndrome
Autoimmunity, Increased circulating antibody level, Systemic lupus erythematosus, Autoimmune anti... ORPHA:411593
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Skin rash, Increased circulating IgE level, Recurrent fungal infections, Recurrent Staphylococcus... OMIM:147060
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Colitis, Hepatitis, Recurrent skin infections,... OMIM:300635
Complement Component C1S Deficiency
Systemic lupus erythematosus, Hashimoto thyroiditis OMIM:613783
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Neutropenia, Anemia OMIM:617243
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Thrombocytopenia, Neutropenia, Sideroblastic anemia OMIM:598500
Folate Malabsorption, Hereditary
Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia, Leukopenia OMIM:229050
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis, Otitis media, Chronic sinusitis OMIM:300455
Pontocerebellar Hypoplasia, Type 14
Thrombocytopenia, Chronic neutropenia OMIM:619301
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Mu-Heavy Chain Disease
Increased circulating antibody level, Splenomegaly, Anemia, Abnormal B cell count ORPHA:100024
Immunodeficiency 66
Pustule, Defective T cell proliferation, Meningitis, Sepsis, Recurrent skin infections OMIM:618847
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, Septic arthritis, Recurrent... OMIM:612260
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Reticular Dysgenesis
Abnormality of neutrophils, Decreased circulating antibody level, Anemia, Leukopenia ORPHA:33355
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus OMIM:614420
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Anemia ORPHA:318
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Smith-Kingsmore Syndrome
Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia OMIM:251190
Bloom Syndrome
Decreased circulating total IgM, Leukemia, Decreased circulating IgG level, Decreased circulating... OMIM:210900
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Decreased circulating antibody level, Agammaglobulinemia OMIM:616910
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Anemia, Splenomegaly ORPHA:100025
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia OMIM:615190
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Decreased circulating antibody level, Thrombocytopenia OMIM:616576
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Recurrent bacterial infections OMIM:613779
Pseudomyxoma Peritonei
Inflammation of the large intestine, Abdominal pain, Constipation, Nausea and vomiting, Intestina... ORPHA:26790
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:233710
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Bronchiectasis, Eczematoid dermatitis, Lymphopenia, Chronic diarrhea, Pyod... OMIM:242700
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Neutropenia OMIM:600351
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia OMIM:616738
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... ORPHA:221139
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Recurrent Serratia ... OMIM:233690
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Leukemia, Decreased circulating IgA level OMIM:208910
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Neutropenia, Abnormal platelet granules ORPHA:238459
Autoinflammatory Syndrome, Familial, Behcet-Like
Skin rash, Ileal ulcer, Anterior uveitis, Colitis OMIM:616744
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Colitis, Cystic acne, Sterile arthritis, Acne, Arthritis OMIM:604416
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, D... OMIM:613011
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia ORPHA:88
Lymphoproliferative Syndrome 2
Hemophagocytosis, Decreased circulating antibody level, Pancytopenia, Decreased lymphocyte prolif... OMIM:615122
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Immunodeficiency 27B
Salmonella osteomyelitis, Recurrent mycobacterial infections, Osteomyelitis OMIM:615978
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Increased circulating antibody level OMIM:618048
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Abnormal serum interleukin level, Recurrent gastroenteritis, Recurrent enterov... ORPHA:79124
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Anemia, Splenomegaly, Decreased circulating total IgM, Decreased... OMIM:612301
Barth Syndrome
Granulocytopenia, Neutropenia OMIM:302060
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Increased circulating IgE level, Hemolyti... OMIM:600903
Immunodeficiency 23
Increased circulating IgM level, Increased circulating IgE level, Allergic rhinitis, Recurrent st... OMIM:615816
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Intermittent thrombocytopenia, C... OMIM:313900
Developmental And Epileptic Encephalopathy 66
Neutropenia, Anemia OMIM:618067
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, T lymphocytopenia, Impaired lymphocyte transformati... OMIM:619313
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... OMIM:301000
Cystic Fibrosis
Decreased circulating antibody level ORPHA:586
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Neutropenia, Anemia OMIM:617056
Retinal Venous Beading
Neutropenia OMIM:180080
Secondary Short Bowel Syndrome
Malnutrition, Small intestinal dysmotility, Constipation, Villous atrophy, Aganglionic megacolon,... ORPHA:95427
Immunodeficiency 43
Decreased circulating IgG level OMIM:241600
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgM level, Leukocytosis, Increased proportion of CD4-positive T cells, Incr... OMIM:617099
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Recurrent fungal infections, Chronic otitis media, Recurrent viral infections, ... ORPHA:169090
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Neutropenia, Anemia ORPHA:289916
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Immunodeficiency 58
Seborrheic dermatitis, Cutaneous abscess, Bronchiectasis, Helicobacter pylori infection, Decrease... OMIM:618131
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Chronic gastritis, Dysphagia, Colitis, Diarrhea, Eczema, Art... OMIM:608809
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Splenomegaly, Anemia, Recurrent bacterial infections,... OMIM:612840
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Neutropenia, Microcytic anemia OMIM:251900
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Neutropenia, Splenomegaly ORPHA:79477
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Thrombocytopenia, Neutropenia, Anemia, Splenomegaly ORPHA:79312
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Neutropenia, Thrombocytopenia,... OMIM:169400
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Poikiloderma With Neutropenia
Neutropenia, Splenomegaly OMIM:604173
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Systemic lupus erythematosus, Autoimmune thrombocytopenia, Autoimmunity ORPHA:444463
Esophagitis, Eosinophilic, 1
Dysphagia, Esophagitis, Vomiting OMIM:610247
Esophagitis, Eosinophilic, 2
Dysphagia, Esophagitis, Vomiting OMIM:613412
Diamond-Blackfan Anemia 11
Neutropenia, Anemia, Anemia of inadequate production OMIM:614900
Leukocyte Adhesion Deficiency, Type I
Recurrent staphylococcal infections, Leukocytosis, Periodontitis, Rectal abscess, Recurrent bacte... OMIM:116920
Whim Syndrome
Severe periodontitis, Parotitis, Bronchiectasis, Recurrent upper respiratory tract infections, Ly... ORPHA:51636
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Decreased circulating IgA level, Hypersplenism, Splenomegaly OMIM:613385
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Panhypogammaglobulinemia OMIM:602450
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopen... ORPHA:98850
Complement Factor I Deficiency
Recurrent Haemophilus influenzae infections, Pyelonephritis, Recurrent otitis media, Recurrent si... OMIM:610984
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Increased serum interferon-gamma level, Decreased circulating antibody level, A... ORPHA:540
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, N... OMIM:304790
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Iga Pemphigus
Increased circulating IgA level, Cutaneous abscess, Eosinophilia, Monoclonal elevation of circula... ORPHA:555905
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophagitis, Eosinophilic microabscess formation in the esophagus, Allergic rhinitis, Atopic derm... ORPHA:411696
Bloom Syndrome
Abnormal proportion of CD8-positive T cells, Decreased circulating antibody level, Acute myeloid ... ORPHA:125
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Leukopenia, Refractory anemia OMIM:616871
Immunodeficiency 27A
Increased circulating IgM level, Thrombocytosis, Leukocytosis, Histiocytosis, Increased circulati... OMIM:209950
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... OMIM:612541
Lipodystrophy, Congenital Generalized, Type 4
Decreased circulating IgA level, Splenomegaly OMIM:613327
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Increased circulating IgG level, Hy... OMIM:617388
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Neutropenia, Macrothrombocytopenia OMIM:603585
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis OMIM:212065
Schimke Immunoosseous Dysplasia
Lymphopenia, Neutropenia, Thrombocytopenia, Abnormal T cell morphology, Anemia, Abnormal immunogl... OMIM:242900
Diabetes Mellitus, Ketosis-Prone
Autoimmunity OMIM:612227
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Chronic oral candidiasis, Reduced natural killer cell activity, Recurrent ot... OMIM:608233
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Thrombocytosis, Decreased circulating IgA level, Macrocytic anemia OMIM:212750
Vici Syndrome
Cutaneous anergy, Recurrent fungal infections, Decreased proportion of CD4-positive helper T cell... OMIM:242840
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Letterer-Siwe Disease
Thrombocytopenia, Hepatosplenomegaly, Neutropenia, Anemia OMIM:246400
Pulmonary Fibrosis, Idiopathic
Increased circulating antibody level OMIM:178500
Subcorneal Pustular Dermatosis
Autoimmunity, Increased circulating antibody level, Rheumatoid arthritis, Systemic lupus erythema... ORPHA:48377
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Neutropenia, Anemia OMIM:614857
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Icf Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Lymphopenia, Anemia ORPHA:2268
Cyclic Neutropenia
Decreased eosinophil count, Tooth abscess, Lymphopenia, Thrombocytopenia, Perianal abscess, Cycli... ORPHA:2686
Neonatal Lupus Erythematosus
Hemolytic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Anemia, Splenomegaly ORPHA:398124
Trichohepatoenteric Syndrome 2
Villous atrophy, Diarrhea, Hepatitis, Colitis OMIM:614602
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Panhypogammaglobulinemia ORPHA:251009
Eosinophilopenia
Autoimmunity OMIM:131430
Congenital Enterovirus Infection
Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Anemia, Leukopenia ORPHA:292
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Increased circulating antibody level, Splenomegaly OMIM:615846
Ataxia-Telangiectasia
Decreased circulating antibody level, Lymphopenia ORPHA:100
Secondary Intestinal Lymphangiectasia
Decreased circulating antibody level, Lymphopenia ORPHA:90363
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Hereditary Folate Malabsorption
Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Thrombocytopenia, Eosin... ORPHA:90045
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Py... OMIM:258900
X-Linked Agammaglobulinemia
Neutropenia, Thrombocytopenia, Recurrent cutaneous abscess formation, Agammaglobulinemia, Anemia ORPHA:47
Complement Component 5 Deficiency
Intractable diarrhea, Generalized seborrheic dermatitis, Recurrent meningococcal disease OMIM:609536
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Anemia, Leukopenia ORPHA:520
Caffey Disease
Increased circulating antibody level ORPHA:1310
Dubowitz Syndrome
Aplastic anemia, Acute lymphoblastic leukemia, Decreased circulating IgG level, Decreased circula... OMIM:223370
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... ORPHA:3261
Riddle Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level ORPHA:420741
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neutropenia... OMIM:214500
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Skin rash, Vacuolated lymphocytes, Recurrent bacter... ORPHA:167
Mirage Syndrome
Lymphopenia, Gastroesophageal reflux, Recurrent urinary tract infections, Hyponatremia, Chronic d... OMIM:617053
Autoinflammation With Infantile Enterocolitis
Skin rash, Villous atrophy, Episodic vomiting, Feeding difficulties in infancy, Enterocolitis, Se... OMIM:616050
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells, Panniculitis, Diarrhea, Recurrent respirator... OMIM:615758
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia OMIM:614171
Shwachman-Diamond Syndrome
Skin rash, Pneumonia, Neutropenia, Pancytopenia, Leukopenia, Sinusitis, Anemia, Eczema, Osteomyel... ORPHA:811
Leukocyte Adhesion Deficiency
Peritonitis, Bronchiectasis, Recurrent urinary tract infections, Pneumonia, Lymphocytic interstit... ORPHA:2968
Autosomal Agammaglobulinemia
Agammaglobulinemia, Neutropenia ORPHA:33110
T-Cell Receptor-Alpha/Beta Deficiency
Autoimmunity OMIM:615387
Angiostrongyliasis
Increased circulating IgM level, Increased circulating specific IgE antibody, Increased circulati... ORPHA:74
Griscelli Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Thrombocytopenia, Leukopenia, S... ORPHA:381
Leishmaniasis
Increased circulating antibody level, Abnormal macrophage morphology, Pancytopenia, Thrombocytope... ORPHA:507
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, N... OMIM:615952
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Increased circulating IgA level, Lymphopenia, Increased circulating IgG level, An... OMIM:615934
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Congenital hypoplastic a... OMIM:250250
Spondyloarthropathy, Susceptibility To, 1
Inflammation of the large intestine, Hip osteoarthritis, Psoriasiform dermatitis, Oligoarthritis,... OMIM:106300
Cohen Syndrome
Neutropenia, Leukopenia OMIM:216550
Evans Syndrome
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... ORPHA:1959
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Neutropenia, Anemia OMIM:614520
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Splenomegaly OMIM:201100
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:251110
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections, Recurrent bacterial infections OMIM:612783
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Macrocytic anemia, Leukopenia, Reticulocytopenia OMIM:612528
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Leukopenia ORPHA:508542
Roifman Syndrome
Decreased circulating antibody level, Hepatosplenomegaly, Eosinophilia ORPHA:353298
Felty Syndrome
Abnormal lymphocyte morphology, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly ORPHA:47612
Propionic Acidemia
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:606054
Good Syndrome
Thrombocytopenia, Decreased circulating antibody level, Abnormal leukocyte morphology, Anemia ORPHA:169105
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:251100
Methylcobalamin Deficiency Type Cble
Pancytopenia, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume ORPHA:2169
Netherton Syndrome
Decreased circulating IgG level, Increased circulating IgE level, Hypereosinophilia OMIM:256500
Shigellosis
Peritonitis, Paralytic ileus, Acute colitis, Intestinal perforation, Tenesmus, Abdominal cramps, ... ORPHA:810
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Thrombocytopenia, Neutropenia, Megaloblastic anemia OMIM:277380
Thymic Tumor
Dysgammaglobulinemia ORPHA:100100
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nasogastric tube feeding, Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Pneumonia... ORPHA:37042
Autoimmune Hepatitis
Inflammation of the large intestine, Acute hepatitis, Gastrointestinal hemorrhage, Abdominal pain... ORPHA:2137
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Thrombocytosis, Increased circulating IgE level, Defective T cell proliferati... OMIM:618213
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgG4... ORPHA:449400
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... ORPHA:1830
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Hypocomplementemic Urticarial Vasculitis
Skin rash, Uveitis, Meningitis, Conjunctivitis, Episcleritis, Splenomegaly, Diarrhea, Recurrent b... ORPHA:36412
Sézary Syndrome
Abnormal lymphocyte morphology, Abnormal immunoglobulin level, Splenomegaly ORPHA:3162
Mucopolysaccharidosis-Plus Syndrome
Increased circulating IgM level, Neutropenia, Thrombocytopenia, Splenomegaly, Anemia, Leukopenia OMIM:617303
Necrotizing Enterocolitis
Thrombocytopenia, Neutropenia, Leukocytosis ORPHA:391673
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Rheumatoid arthritis, Myositis ORPHA:48104
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Colitis, Hematochezia, Abdominal pain OMIM:203300
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Decreased circulating antibody level, Sideroblastic anemia, B lymp... OMIM:616084
Thymoma
Hemolytic anemia, Decreased circulating antibody level, Abnormal lymphocyte morphology, Pancytope... ORPHA:99867
Nijmegen Breakage Syndrome
Recurrent bronchitis, T lymphocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Recurrent u... OMIM:251260
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Skin rash, Acne, Palmoplantar pustulosis, Psoriasiform derma... ORPHA:324964
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Ulcerative colitis, Acute pancreatitis, Perianal abscess, Recurrent pneumonia, Ecz... OMIM:618935
Aspergillosis
Increased circulating IgE level, Neutropenia, Eosinophilia ORPHA:1163
Tempi Syndrome
Polycythemia, Increased circulating IgG level, Increased hematocrit ORPHA:284227
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Colonic eosinophilia, Atopic dermatitis, Membranous nephropathy OMIM:618999
Sapho Syndrome
Inflammation of the large intestine, Skin rash, Pustule, Abdominal pain, Palmoplantar pustulosis,... ORPHA:793
Trichothiodystrophy 5, Nonphotosensitive
Decreased circulating antibody level OMIM:300953
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Diarrhea, ... ORPHA:470
Hyper-Igd Syndrome
Leukocytosis, Splenomegaly, Increased circulating IgA level, Neutrophilia, Hepatosplenomegaly, In... OMIM:260920
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Agammaglobulinemia, Anemia ORPHA:935
Fanconi Anemia, Complementation Group E
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia OMIM:600901
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thrombocytopenia, Acute myeloid leukemia,... OMIM:260400
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Thrombocytopenia, Abnormal neutrophil count, Splenomegaly, Myeloproliferative disor... ORPHA:3226
Immunodeficiency 59 And Hypoglycemia
Hypochromic anemia, Leukocytosis, Decreased circulating antibody level, Thrombocytopenia, Granulo... OMIM:233600
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating antibody level OMIM:606056
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections, Acute ... ORPHA:60033
Fanconi Anemia, Complementation Group A
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia OMIM:227650
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Unclassified Myelodysplastic Syndrome
Autoimmunity, Bone marrow hypocellularity ORPHA:98827
3-Methylglutaconic Aciduria Type 7
Infection associated neutropenia, Neutropenia ORPHA:445038
Sepsis In Premature Infants
Leukocytosis, Neutropenia, Thrombocytopenia, Increased circulating interleukin 6, Anemia, Splenom... ORPHA:90051
Ghosal Hematodiaphyseal Dysplasia
Thrombocytopenia, Leukopenia, Refractory anemia OMIM:231095
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Fanconi Anemia, Complementation Group I
Neutropenia OMIM:609053
Multiple Myeloma
Decreased circulating antibody level, Increased circulating IgA level, Increased circulating IgG ... ORPHA:29073
Hereditary Orotic Aciduria
Impaired T cell function, Anemia, Splenomegaly ORPHA:30
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal serum interleukin level, Increased serum interferon-gamma level, Autoimmunity, Rheumatoi... ORPHA:85410
Hermansky-Pudlak Syndrome 10
Neutropenia, Splenomegaly OMIM:617050
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Constrictive pericarditis, Abdominal pain, Protracted diarrhea, Diarrhea, Intestin... ORPHA:67
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Decreased circulating antibody level, Thrombocytosis OMIM:226300
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level ORPHA:69126
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Decreased circulating antibody level, Lymphopenia, Eosinophilia OMIM:617425
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Chron... OMIM:614576
Popov-Chang syndrome
Decreased circulating antibody level, Lymphopenia OMIM:618428
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612562
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Lymphopenia, Neutropenia, Autoimmune thrombocytopenia OMIM:607944
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Neutropenia ORPHA:1667
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Neutropenia ORPHA:79284
Netherton Syndrome
Decreased circulating antibody level, Increased circulating IgE level ORPHA:634
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:66628
Fanconi Anemia, Complementation Group C
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia OMIM:227645
Fusariosis
Lung abscess, Lymphopenia, Granuloma, Neutropenia, Abnormality of the spleen, Brain abscess ORPHA:228119
Zygomycosis
Peritonitis, Pericarditis, Ileitis, Melena, Diarrhea, Sinusitis, Vomiting, Myocarditis, Endocardi... ORPHA:73263
Shwachman-Diamond Syndrome 2
Thrombocytopenia, Neutropenia, Normocytic anemia OMIM:617941
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Colitis, Chronic diarrhea, Bronchiectasis, Recurrent pneumonia OMIM:301220
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody level, Lymphopenia,... ORPHA:1572
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Anemia, Recurrent bacterial infections OMIM:244460
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Neutropenia OMIM:615471
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Acute colitis, Intestinal perforation, Abdominal pain, Intussusception, Colonic sten... ORPHA:90038
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:179494
Kasabach-Merritt Syndrome