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Ontology Browser
Term:
Immunodeficiency 99 with Hypogammaglobulinemia and Autoimmune Cytopenias (DOID:9003255)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Antibody Deficiency due to Defect in CD19 
ataxia telangiectasia +   
autoimmune disease +   
Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated  
Autoinflammation, Immunde Dysregulation, and Eosinophilia  
AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2  
autosomal dominant familial periodic fever  
B cell deficiency +   
C1q Deficiency +   
C9 Deficiency with Dermatomyositis 
Cartilage Hair Hypoplasia Like Syndrome 
cartilage-hair hypoplasia  
Cd4+ Lymphocyte Deficiency  
CD8 Deficiency, Familial  
combined immunodeficiency +   
Combined Inflammatory and Immunologic Defect 
complement deficiency +   
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
Davenport Donlan Syndrome 
Deltaretrovirus Infections +   
dendritic cell deficiency +   
ectodermal dysplasia and immune deficiency +   
Endotoxin Hyporesponsiveness  
epidermodysplasia verruciformis +   
Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
familial Behcet-like autoinflammatory syndrome  
familial cold autoinflammatory syndrome +   
Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency 
Fanconi-like syndrome  
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 
Griscelli syndrome +   
hepatic venoocclusive disease with immunodeficiency  
human immunodeficiency virus infectious disease +   
Hypoglobulinemia and Absent B Cells 
Immune Deficiency Disease  
Immune Deficiency, Familial Variable 
IMMUNODEFICIENCY 101 (VARICELLA ZOSTER VIRUS-SPECIFIC)  
Immunodeficiency 102  
Immunodeficiency 103  
Immunodeficiency 106  
Immunodeficiency 107  
Immunodeficiency 109  
Immunodeficiency 111  
IMMUNODEFICIENCY 15 +   
immunodeficiency 18  
immunodeficiency 20  
immunodeficiency 21  
immunodeficiency 27A  
immunodeficiency 27B  
immunodeficiency 28  
immunodeficiency 29  
immunodeficiency 31A  
immunodeficiency 31B  
immunodeficiency 31C  
immunodeficiency 35  
immunodeficiency 38  
immunodeficiency 39  
immunodeficiency 42  
immunodeficiency 43  
immunodeficiency 44  
immunodeficiency 45  
immunodeficiency 47  
immunodeficiency 51  
immunodeficiency 57  
immunodeficiency 65  
immunodeficiency 66  
Immunodeficiency 67  
Immunodeficiency 68  
Immunodeficiency 75  
Immunodeficiency 76  
Immunodeficiency 77  
Immunodeficiency 78 with Autoimmunity and Developmental Delay  
Immunodeficiency 80  
Immunodeficiency 81  
Immunodeficiency 82  
Immunodeficiency 83  
Immunodeficiency 84  
Immunodeficiency 85  
Immunodeficiency 86  
Immunodeficiency 87 and Autoimmunity  
Immunodeficiency 88  
Immunodeficiency 89 and Autoimmunity  
IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION  
Immunodeficiency 92  
Immunodeficiency 93  
Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies  
Immunodeficiency 95  
Immunodeficiency 96  
Immunodeficiency 97 with Autoinflammation  
Immunodeficiency 98 with Autoinflammation, X-Linked  
Immunodeficiency 99 with Hypogammaglobulinemia and Autoimmune Cytopenias  
An autosomal recessive immunologic disorder characterized by the onset of recurrent sinopulmonary infections in early childhood. Caused by homozygous mutation in the CTNNBL1 gene on chromosome 20q11.
Immunodeficiency due to Defect in MAPBP-Interacting Protein  
Immunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist 
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis 
immunodeficiency-centromeric instability-facial anomalies syndrome +   
immunoglobulin beta deficiency 
IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY  
Inosine Phosphorylase Deficiency, Immune Defect Due To 
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
Kotzot-Richter Syndrome 
Lichtenstein Syndrome 
Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome  
Lymphoblastic Transformation, Intrinsic Defect in 
Lymphokine Deficiency 
lymphopenia +   
lymphoproliferative syndrome +   
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
NEMO Mutation with Immunodeficiency 
NK cell deficiency +   
Partial Combined Immunodeficiency with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes 
Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain  
phagocyte bactericidal dysfunction +   
PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME  
Progressive Lymphoid System Deterioration 
Riddle syndrome  
Roifman Syndrome  
Roifman-Chitayat Syndrome  
Schimke immuno-osseous dysplasia  
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Splenic Hypoplasia  
T cell and NK cell immunodeficiency +   
T cell deficiency +   
T Cell Immunodeficiency Primary  
T-Cell OKT4 Deficiency  
Thumb Agenesis, Short Stature, and Immunodeficiency 
Tuftsin Deficiency 
WHIM Syndrome +   
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 

Synonyms
Exact Synonyms: IMD99
Primary IDs: OMIM:619846
Definition Sources: OMIM:619846

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